format-version: 1.2 data-version: releases/2015-02-14 saved-by: Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al auto-generated-by: OBO-Edit 2.3 subsetdef: hposlim_core "Core clinical terminology" subsetdef: secondary_consequence "Consequence of a disorder in another organ system." default-namespace: human_phenotype ontology: hp owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nAnnotationAssertion( \"\")\nAnnotationAssertion( \"\")\n) logical-definition-view-relation: has_part [Term] id: HP:0000001 name: All comment: Root of all terms in the Human Phenotype Ontology. [Term] id: HP:0000002 name: Abnormality of body height def: "Deviation from the norm of height with respect to that which is expected according to age and gender norms." [HPO:probinson] is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T02:20:00Z [Term] id: HP:0000003 name: Multicystic kidney dysplasia alt_id: HP:0004715 def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. synonym: "Multicystic dysplastic kidney" EXACT [] synonym: "Multicystic kidneys" EXACT [] synonym: "Multicystic renal dysplasia." EXACT [] xref: MeSH:D021782 "Multicystic Kidney Dysplasia" xref: UMLS:C0345335 "Multicystic Kidney Dysplasia" is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000005 name: Mode of inheritance alt_id: HP:0001453 alt_id: HP:0001461 def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [HPO:probinson] synonym: "Inheritance" EXACT [] is_a: HP:0000001 ! All [Term] id: HP:0000006 name: Autosomal dominant inheritance alt_id: HP:0001415 alt_id: HP:0001447 alt_id: HP:0001448 alt_id: HP:0001451 alt_id: HP:0001455 alt_id: HP:0001456 alt_id: HP:0001463 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] synonym: "Autosomal dominant" EXACT [] synonym: "AUTOSOMAL DOMINANT FORM" RELATED [HPO:skoehler] synonym: "AUTOSOMAL DOMINANT TYPE" RELATED [HPO:skoehler] xref: UMLS:C0443147 "Autosomal dominant" is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000007 name: Autosomal recessive inheritance alt_id: HP:0001416 alt_id: HP:0001526 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] synonym: "Autosomal recessive" EXACT [] synonym: "AUTOSOMAL RECESSIVE FORM" RELATED [HPO:skoehler] synonym: "Autosomal recessive predisposition" RELATED [] is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000008 name: Abnormality of female internal genitalia def: "An abnormality of the female internal genitalia." [HPO:probinson] is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010460 ! Abnormality of the female genitalia property_value: HP:0040005 "An abnormality of the `female internal genitalia` (FMA:45654)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000009 name: Functional abnormality of the bladder alt_id: HP:0004424 alt_id: HP:0008731 def: "Dysfunction of the urinary bladder." [HPO:probinson] synonym: "Poor bladder function" EXACT [] xref: UMLS:C1848145 "Poor bladder function" is_a: HP:0000014 ! Abnormality of the bladder property_value: HP:0040005 "`Dysfunction` (PATO:0001641) of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000010 name: Recurrent urinary tract infections alt_id: HP:0000094 def: "Repeated infections of the urinary tract." [HPO:probinson] comment: The urinary tract comprises the kidneys, ureters, a bladder, and a urethra. synonym: "Frequent urinary tract infections" EXACT [] synonym: "Urinary infection" EXACT [] synonym: "Urinary tract infection" EXACT [] synonym: "Urinary tract infections" EXACT [] synonym: "Urinary tract infections, recurrent" EXACT [HPO:skoehler] xref: MeSH:D014552 "Urinary Tract Infections" xref: UMLS:C0042029 "Infections, Urinary Tract" xref: UMLS:C0262655 "Recurrent urinary tract infections" is_a: HP:0002719 ! Recurrent infections is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0000011 name: Neurogenic bladder def: "An inability to completely empty the urinary bladder during the process of urination owing to a neurological condition." [HPO:probinson] xref: UMLS:C0005697 "Neurogenic Bladder" is_a: HP:0000009 ! Functional abnormality of the bladder property_value: HP:0040005 "An inability to completely empty the `urinary bladder` (FMA:15900) during the process of `urination` (GO:0060073) owing to a neurological condition." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000012 name: Urinary urgency def: "Urge incontinence is the strong, sudden need to urinate." [HPO:probinson, pmid:12559262] comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. synonym: "Overactive bladder syndrome" RELATED [] synonym: "Urgency frequency syndrome" RELATED [] xref: UMLS:C0085606 "Urinary urgency" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000013 name: Hypoplasia of the uterus alt_id: HP:0001154 alt_id: HP:0008637 def: "Underdevelopment of the uterus." [HPO:probinson] synonym: "Hypoplastic uterus" EXACT [] synonym: "Rudimentary uterus" EXACT [] xref: UMLS:C1836183 "Hypoplastic uterus" is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus property_value: HP:0040005 "Underdevelopment of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000014 name: Abnormality of the bladder def: "An abnormality of the urinary bladder." [HPO:probinson] is_a: HP:0010936 ! Abnormality of the lower urinary tract property_value: HP:0040005 "An abnormality of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000015 name: Bladder diverticulum def: "Diverticulum (sac or pouch) in the wall of the urinary bladder." [HPO:probinson] synonym: "Bladder diverticula" EXACT [HPO:skoehler] xref: UMLS:C0156273 "BLADDER DIVERTICULUM" is_a: HP:0000014 ! Abnormality of the bladder property_value: HP:0040005 "`Diverticulum` (MPATH:68) (sac or pouch) in the `wall of the urinary bladder` (FMA:15902)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000016 name: Urinary retention def: "Inability to completely empty the urinary bladder during the process of urination." [HPO:probinson] comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. synonym: "Increased post-void residual urine volume" EXACT [] xref: MeSH:D016055 "Urinary Retention" is_a: HP:0000009 ! Functional abnormality of the bladder property_value: HP:0040005 "Inability to completely empty the `urinary bladder` (FMA:15900) during the process of `urination` (GO:0060073)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000017 name: Nocturia def: "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [HPO:sdoelken] comment: Often occuring as a result of heart insufficiency. synonym: "Nycturia" EXACT [HPO:sdoelken] xref: MeSH:D053158 "Nocturia" xref: UMLS:C0028734 "Nycturia" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000019 name: Urinary hesitancy def: "Difficulty in beginning the process of urination." [HPO:probinson] xref: UMLS:C0152032 "Hesitancy" is_a: HP:0000009 ! Functional abnormality of the bladder property_value: HP:0040005 "Difficulty in beginning the process of `urination` (GO:0060073)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000020 name: Urinary incontinence alt_id: HP:0006942 alt_id: HP:0008681 def: "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken, pmid:12559262] comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. synonym: "Bladder incontinence" EXACT [] xref: MeSH:D014549 "Urinary Incontinence" is_a: HP:0000009 ! Functional abnormality of the bladder property_value: HP:0040005 "Loss of the ability to control the `urinary bladder` (FMA:15900) leading to involuntary `urination` (GO:0060073)." xsd:string {xref="HPO:sdoelken", xref="pmid:12559262"} [Term] id: HP:0000021 name: Megacystis alt_id: HP:0002838 def: "Dilatation of the bladder postnatally." [HPO:probinson] is_a: HP:0010955 ! Dilatation of the bladder [Term] id: HP:0000022 name: Abnormality of male internal genitalia def: "An abnormality of the male internal genitalia." [HPO:probinson] comment: The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010461 ! Abnormality of the male genitalia property_value: HP:0040005 "An abnormality of the `male internal genitalia` (FMA:45655)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000023 name: Inguinal hernia def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson] comment: Inguinal hernia appears as a bulge in the groin. subset: hposlim_core xref: MEDRA:10022016 "Inguinal hernia" xref: MeSH:D006552 "Hernia, Inguinal" xref: SNOMEDCT:396232000 "Inguinal hernia" xref: UMLS:C0019294 "Hernias, Inguinal" is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0000024 name: Prostatitis def: "The presence of inflammation of the prostate." [HPO:probinson] xref: MeSH:D011472 "Prostatitis" xref: UMLS:C0033581 "prostatitis" is_a: HP:0008775 ! Abnormality of the prostate property_value: HP:0040005 "The presence of `inflammation` (MPATH:212) of the `prostate` (FMA:9600)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000025 name: Functional abnormality of male internal genitalia is_a: HP:0012874 ! Abnormal male reproductive system physiology [Term] id: HP:0000026 name: Male hypogonadism alt_id: HP:0008649 def: "Decreased functionality of the male gonad, i.e., of the testis." [HPO:probinson] xref: UMLS:C0151721 "Eunuchoidism" is_a: HP:0000025 ! Functional abnormality of male internal genitalia is_a: HP:0000135 ! Hypogonadism property_value: HP:0040005 "`Decreased functionality` (PATO:0001624) of the male gonad, i.e., of the `testis` (FMA:7210)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000027 name: Azoospermia def: "Absence of any measurable level of sperm in his semen." [HPO:probinson, pmid:20514278] xref: MeSH:D053713 "Azoospermia" xref: UMLS:C0004509 "AZOSPERMIA" is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000028 name: Cryptorchidism alt_id: HP:0000797 def: "Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson, pmid:23650202] comment: The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment. synonym: "Undescended testes" EXACT [] synonym: "Undescended testis" EXACT [] xref: MeSH:D003456 "Cryptorchidism" xref: UMLS:C0010417 "Cryptorchidism" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000029 name: Testicular atrophy def: "Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility." [HPO:probinson] xref: UMLS:C0156312 "Testicular atrophy" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000030 name: Testicular gonadoblastoma def: "The presence of a gonadoblastoma of the testis." [HPO:probinson] synonym: "Gonadoblastoma, male" RELATED [] is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0010788 ! Testicular neoplasm property_value: HP:0040005 "The presence of a `gonadoblastoma` (MPATH:315) of the `testis` (FMA:7210)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000031 name: Epididymitis def: "The presence of inflammation of the epididymis." [HPO:probinson] xref: MeSH:D004823 "Epididymitis" xref: UMLS:C0014534 "Epididymitis" is_a: HP:0009714 ! Abnormality of the epididymis property_value: HP:0040005 "The presence of `inflammation` (MPATH:212) of the `epididymis` (FMA:18255)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000032 name: Abnormality of male external genitalia def: "An abnormality of male external genitalia." [HPO:probinson] is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010461 ! Abnormality of the male genitalia property_value: HP:0040005 "An abnormality of `male external genitalia` (FMA:45642)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000033 name: Ambiguous genitalia, male def: "Ambiguous genitalia in an individual with XY genetic gender." [HPO:probinson] synonym: "Ambiguous genitalia in males" EXACT [] is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000062 ! Ambiguous genitalia property_value: HP:0040005 "`Ambiguous genitalia` (HP:0000062) in an individual with XY genetic gender." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000034 name: Hydrocele testis def: "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [HPO:probinson] synonym: "Hydrocele" BROAD [] synonym: "Testicular hydrocele" EXACT [] xref: MeSH:D006848 "Testicular Hydrocele" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000035 name: Abnormality of the testis def: "An anomaly of the testicle (the male gonad)." [HPO:probinson] synonym: "Anomaly of the testes" EXACT [] is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000036 name: Abnormality of the penis is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000037 name: Male pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] xref: UMLS:C0238395 "Male Pseudohermaphroditism" is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000039 name: Epispadias def: "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:probinson, pmid:23650202] comment: Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately. xref: MeSH:D004842 "Epispadias" xref: UMLS:C0014588 "Epispadias" is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0000040 name: Long penis def: "Penile length more than 2 SD above the mean for age." [] comment: Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. synonym: "Enlarged penis" EXACT [] xref: UMLS:C0269011 "Large penis" is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000041 name: Chordee def: "Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees." [HPO:probinson, pmid:23650202] comment: The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately. xref: UMLS:C0221182 "Chordee" is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000042 name: Absent external genitalia def: "Lack of external genitalia in a male or female individual." [HPO:probinson] xref: UMLS:C1848869 "Absent external genitalia" is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000044 name: Hypogonadotrophic hypogonadism alt_id: HP:0008224 def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] synonym: "Hypogonadism, hypogonadotropic" EXACT [] synonym: "Isolated hypogonadotropic hypogonadism" RELATED [] xref: UMLS:C0271623 "HYPOGONADISM, ISOLATED HYPOGONADOTROPIC" is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000045 name: Abnormality of the scrotum is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000046 name: Scrotal hypoplasia synonym: "Hypoplastic scrotum" EXACT [] xref: UMLS:C1853568 "Scrotal hypoplasia" is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0000050 ! Hypoplastic male external genitalia [Term] id: HP:0000047 name: Hypospadias def: "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] xref: MeSH:D007021 "Hypospadias" xref: UMLS:C0848558 "Hypospadias" is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0000048 name: Bifid scrotum def: "Midline indentation or cleft of the scrotum." [HPO:probinson, pmid:23650202] comment: A testis may or may not be present in each half of the scrotum. xref: UMLS:C0341787 "Bifid scrotum" is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000049 name: Shawl scrotum def: "Superior margin of the scrotum superior to the base of the penis." [HPO:probinson, pmid:23650202] comment: A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead. synonym: "Overriding scrotum" EXACT [] xref: UMLS:C1858539 "Shawl scrotum" is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000050 name: Hypoplastic male external genitalia alt_id: HP:0008710 alt_id: HP:0008721 def: "Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra)." [HPO:probinson] synonym: "Hypoplastic male genitalia" EXACT [] synonym: "Small male external genitalia" EXACT [] xref: UMLS:C1842582 "Hypoplastic genitalia" xref: UMLS:C1852534 "Hypoplastic male genitalia" is_a: HP:0003241 ! External genital hypoplasia [Term] id: HP:0000051 name: Perineal hypospadias def: "Hypospadias with location of the urethral meatus in the perineal region." [HPO:probinson, pmid:8097257] xref: UMLS:C0452148 "Hypospadias, perineal" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000052 name: Urethral atresia, male def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [HPO:probinson] is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000053 name: Macroorchidism def: "The presence of abnormally large testes." [HPO:probinson] synonym: "Large testis" EXACT [] xref: UMLS:C1263023 "Macroorchidism" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000054 name: Micropenis alt_id: HP:0000038 def: "Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." [HPO:probinson, pmid:15102623] synonym: "Short penis" EXACT [] synonym: "Small penis" EXACT [] xref: UMLS:C0266435 "Micropenis" is_a: HP:0008736 ! Hypoplasia of penis property_value: HP:0040005 "Abnormally small `penis` (FMA:9707). At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm." xsd:string {xref="HPO:probinson", xref="pmid:15102623"} [Term] id: HP:0000055 name: Abnormality of female external genitalia def: "An abnormality of the female external genitalia." [HPO:probinson] synonym: "Abnormal female external genitalia" EXACT [HPO:skoehler] is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010460 ! Abnormality of the female genitalia property_value: HP:0040005 "An abnormality of the `female external genitalia` (FMA:45649)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000056 name: Abnormality of the clitoris def: "An abnormality of the clitoris." [HPO:probinson] xref: UMLS:C0156394 "Enlarged clitoris" is_a: HP:0000055 ! Abnormality of female external genitalia property_value: HP:0040005 "An abnormality of the `clitoris` (FMA:9909)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000057 name: Clitoromegaly def: "Increased size of the clitoris." [HPO:probinson] synonym: "Clitoral enlargement" EXACT [] synonym: "Enlarged clitoris" EXACT [] synonym: "Prominent clitoris" EXACT [] xref: UMLS:C1837531 "Prominent clitoris" is_a: HP:0000056 ! Abnormality of the clitoris property_value: HP:0040005 "`Increased size` (PATO:0000586) of the `clitoris` (FMA:9909)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000058 name: Abnormality of the labia def: "An anomaly of the labia, the externally visible portions of the vulva." [HPO:probinson] is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000059 name: Hypoplastic labia majora def: "Undergrowth of the outer labia." [HPO:probinson] synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT [] xref: UMLS:C1858540 "Hypoplastic labia majora" is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012881 ! Abnormality of the labia majora [Term] id: HP:0000060 name: Clitoral hypoplasia def: "Developmental hypoplasia of the clitoris." [HPO:probinson] synonym: "Hypoplastic clitoris" EXACT [] synonym: "Small clitoris" EXACT [] xref: UMLS:C1844527 "Clitoral hypoplasia" is_a: HP:0000056 ! Abnormality of the clitoris is_a: HP:0012815 ! Hypoplastic female external genitalia property_value: HP:0040005 "Developmental hypoplasia of the `clitoris` (FMA:9909)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000061 name: Ambiguous genitalia, female alt_id: HP:0008690 def: "Ambiguous genitalia in an individual with XX genetic gender." [HPO:probinson] synonym: "Ambiguous genitalia due to virilization" RELATED [] is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000062 ! Ambiguous genitalia property_value: HP:0040005 "`Ambiguous genitalia` (HP:0000062) in an individual with XX genetic gender." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000062 name: Ambiguous genitalia alt_id: HP:0008685 alt_id: HP:0008693 def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [HPO:probinson, pmid:15102623] comment: Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome. synonym: "Ambiguous external genitalia" EXACT [] synonym: "Ambiguous external genitalia at birth" EXACT [] synonym: "Intersex genitalia" EXACT [] xref: UMLS:C0266362 "Ambiguous genitalia" is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000063 name: Fused labia minora def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] xref: UMLS:C1837532 "Fused labia minora" is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0000064 name: Hypoplastic labia minora xref: UMLS:C1849295 "Hypoplastic labia minora" is_a: HP:0000066 ! Labial hypoplasia is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0000065 name: Labial hypertrophy xref: UMLS:C0404531 "Labial hypertrophy" is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000066 name: Labial hypoplasia synonym: "Hypoplastic labia" EXACT [] xref: UMLS:C1844528 is_a: HP:0000058 ! Abnormality of the labia is_a: HP:0012815 ! Hypoplastic female external genitalia [Term] id: HP:0000067 name: Urethral atresia, female def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [HPO:probinson] is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000068 name: Urethral atresia def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [HPO:probinson] xref: UMLS:C1610065 "Urethral atresia" is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000069 name: Abnormality of the ureter alt_id: HP:0006001 def: "An abnormality of the ureter." [HPO:probinson] synonym: "Abnormality of the ureters" EXACT [] synonym: "Ureteral anomalies" EXACT [] xref: UMLS:C1840382 "Ureteral anomalies" is_a: HP:0010935 ! Abnormality of the upper urinary tract property_value: HP:0040005 "An abnormality of the `ureter` (FMA:9704)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000070 name: Ureterocele def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] xref: MeSH:D014518 "Ureterocele" xref: UMLS:C0041960 "Ureterocele" is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000071 name: Ureteral stenosis def: "The presence of a stenotic, i.e., constricted ureter." [HPO:probinson] xref: UMLS:C0521618 "Ureteral stenosis" is_a: HP:0006000 ! Ureteral obstruction property_value: HP:0040005 "The presence of a stenotic, i.e., `constricted` (PATO:0001847) `ureter` (FMA:9704)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000072 name: Hydroureter alt_id: HP:0006003 def: "The distention of the ureter with urine." [HPO:curators] synonym: "Megaureter" EXACT [] synonym: "Ureteral dilatation" EXACT [] synonym: "Uroureter" RELATED [] xref: UMLS:C0521620 is_a: HP:0000069 ! Abnormality of the ureter property_value: HP:0040005 "The distention of the `ureter` (FMA:9704) with urine." xsd:string {xref="HPO:curators"} [Term] id: HP:0000073 name: Ureteral duplication def: "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] synonym: "Double ureter" EXACT [] xref: UMLS:C1848759 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000074 name: Ureteropelvic junction obstruction def: "Blockage of urine flow from the renal pelvis to the proximal ureter." [Eurenomics:ewuehl] synonym: "Pelviureteric junction obstruction" EXACT [] xref: UMLS:C0948710 is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0000075 name: Renal duplication def: "A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters." [HPO:probinson] synonym: "Supernumerary kidney" RELATED [] xref: UMLS:C1849336 "Renal duplication" is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "A congenital anomaly of the urinary tract, in which the `kidney` (FMA:7203) is duplicated and is drained via two separate renal pelves and ureters." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000076 name: Vesicoureteral reflux alt_id: HP:0005998 alt_id: HP:0006002 alt_id: HP:0008667 def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:probinson] synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] xref: MeSH:D014718 "Vesico-ureteral reflux" is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000077 name: Abnormality of the kidney def: "An abnormality of the kidney." [HPO:probinson] comment: The kidney is a paired organ whose primary function is the production of urine. synonym: "Kidney disease" RELATED [] synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] is_a: HP:0010935 ! Abnormality of the upper urinary tract property_value: HP:0040005 "An abnormality of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000078 name: Abnormality of the genital system def: "An abnormality of the genital system." [HPO:probinson] synonym: "Abnormality of the reproductive system" RELATED [] synonym: "Genital abnormalities" EXACT [] synonym: "Genital abnormality" EXACT [] synonym: "Genital anomalies" EXACT [] synonym: "Genital defects" EXACT [] xref: UMLS:C0744356 "GENITAL ABNORMALITY" is_a: HP:0000119 ! Abnormality of the genitourinary system property_value: HP:0040005 "An abnormality of the `genital system` (FMA:7160)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000079 name: Abnormality of the urinary system def: "An abnormality of the urinary system." [HPO:probinson] synonym: "Urinary tract abnormalities" EXACT [] synonym: "Urinary tract abnormality" EXACT [] synonym: "Urinary tract anomalies" EXACT [] xref: UMLS:C0158698 "URINARY TRACT ANOMALY" is_a: HP:0000119 ! Abnormality of the genitourinary system property_value: HP:0040005 "An abnormality of the `urinary system` (FMA:7159)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000080 name: Abnormality of reproductive system physiology def: "An abnormal functionality of the genital system." [HPO:probinson] synonym: "Abnormality of genital physiology" BROAD [] synonym: "Genital functional abnormality" EXACT [] is_a: HP:0000078 ! Abnormality of the genital system property_value: HP:0040005 "An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `genital system` (FMA:7160)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000081 name: Duplicated collecting system def: "A duplication of the collecting system of the kidney." [HPO:probinson] synonym: "Double collecting system" EXACT [] synonym: "Double urinary collecting systems on intravenous pyelography" EXACT [] synonym: "Duplicated renal collecting system" EXACT [] xref: UMLS:C1858565 is_a: HP:0000073 ! Ureteral duplication is_a: HP:0004742 ! Abnormality of the renal collecting system created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000083 name: Renal insufficiency alt_id: HP:0000084 alt_id: HP:0004723 def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [HPO:probinson] synonym: "Renal failure" EXACT [] synonym: "Renal failure in adulthood" EXACT [] xref: MeSH:D051437 "Renal Insufficiency" xref: UMLS:C1963154 "Renal failure" is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000085 name: Horseshoe kidney def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [HPO:probinson] synonym: "Horseshoe kidneys" EXACT [] xref: UMLS:C0221353 "Horseshoe kidney" is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000086 name: Ectopic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:probinson] synonym: "Displaced kidney" EXACT [] synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] xref: UMLS:C0238207 is_a: HP:0100542 ! Abnormal localization of kidney [Term] id: HP:0000089 name: Renal hypoplasia alt_id: HP:0001968 alt_id: HP:0004741 alt_id: HP:0008641 def: "Hypoplasia of the kidney." [HPO:probinson] comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. synonym: "Hypoplastic kidney" EXACT [] synonym: "Hypoplastic kidneys" EXACT [] synonym: "Small kidneys" EXACT [] xref: UMLS:C0266295 is_a: HP:0008678 ! Renal hypoplasia/aplasia property_value: HP:0040005 "`Hypoplasia` (MPATH:133) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000090 name: Nephronophthisis alt_id: HP:0004748 def: "Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis." [Eurenomics:fschaefer] comment: Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. synonym: "juvenile nephronophthisis" EXACT [] xref: UMLS:C0687120 "Medullary cystic disease NOS" xref: UMLS:C1855681 "Juvenile nephronophthisis" is_a: HP:0100957 ! Abnormality of the renal medulla [Term] id: HP:0000091 name: Abnormality of the renal tubule def: "An abnormality of the renal tubules." [HPO:probinson] comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. is_a: HP:0012575 ! Abnormality of the nephron property_value: HP:0040005 "An abnormality of the `renal tubules` (FMA:15627)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000092 name: Tubular atrophy alt_id: HP:0005578 def: "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [HPO:probinson] synonym: "Renal tubular cell atrophy" EXACT [] xref: UMLS:C1858395 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0000093 name: Proteinuria def: "Increased levels of protein in the urine." [HPO:probinson] xref: MeSH:D011507 "Proteinuria" xref: UMLS:C0033687 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0000095 name: Abnormality of the glomerulus def: "A structural anomaly of the glomerulus." [Eurenomics:ewuehl] is_a: HP:0012575 ! Abnormality of the nephron property_value: HP:0040005 "A structural anomaly of the `glomerulus` (FMA:15624)." xsd:string {xref="Eurenomics:ewuehl"} [Term] id: HP:0000096 name: Glomerulosclerosis def: "Accumulation of scar tissue within the glomerulus." [Eurenomics:fschaefer] xref: UMLS:C0178664 "glomerular sclerosis" is_a: HP:0000095 ! Abnormality of the glomerulus [Term] id: HP:0000097 name: Focal segmental glomerulosclerosis alt_id: HP:0004747 def: "Segmental accumulation of scar tissue in individual (but not all) glomeruli." [Eurenomics:fschaefer] synonym: "Focal and segmental glomerular sclerosis" EXACT [] synonym: "Focal and segmental glomerulosclerosis" EXACT [] synonym: "focal glomerulosclerosis" EXACT [] xref: MeSH:D005923 "Glomerulosclerosis, Focal Segmental" xref: UMLS:C0017668 "Focal glomerulosclerosis" is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0000098 name: Tall stature alt_id: HP:0001527 alt_id: HP:0003515 alt_id: HP:0003516 def: "A height above that which is expected according to age and gender norms." [HPO:probinson] synonym: "Accelerated linear growth" EXACT [] synonym: "Increased body height" EXACT [] synonym: "Increased linear growth" EXACT [] xref: UMLS:C0241240 xref: UMLS:C1837794 "Increased linear growth" is_a: HP:0000002 ! Abnormality of body height created_by: peter creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000099 name: Glomerulonephritis def: "Inflammation of the renal glomeruli." [HPO:probinson] synonym: "Glomrulonephritis" EXACT [] xref: MeSH:D005921 "Glomerulonephritis" xref: UMLS:C0017658 "Glomerulonephritis" is_a: HP:0000095 ! Abnormality of the glomerulus is_a: HP:0000123 ! Nephritis [Term] id: HP:0000100 name: Nephrotic syndrome alt_id: HP:0000801 alt_id: HP:0004718 alt_id: HP:0008638 alt_id: HP:0008727 def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [HPO:probinson] comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h. synonym: "Nephrosis" EXACT [] xref: MeSH:D009404 "Nephrotic Syndrome" is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000103 name: Polyuria alt_id: HP:0200060 def: "An increased rate of urine production." [HPO:probinson] comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day. synonym: "Increased urine output" EXACT [] xref: MeSH:D011141 "Polyuria" xref: UMLS:C0032617 "Polyuria" is_a: HP:0012590 ! Abnormal urine output property_value: HP:0040005 "An `increased rate` (PATO:0000912) of urine production." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000104 name: Renal agenesis alt_id: HP:0000785 alt_id: HP:0004745 alt_id: HP:0008680 def: "Agenesis, that is, failure of the kidney to develop during embryogenesis and development." [HPO:probinson] comment: Renal agenesis can occur as a unilateral or bilateral trait. synonym: "Absent kidney" EXACT [] synonym: "Renal aplasia" EXACT [] xref: UMLS:C0220706 is_a: HP:0008678 ! Renal hypoplasia/aplasia property_value: HP:0040005 "`Agenesis` (MPATH:57), that is, failure of the `kidney` (FMA:7203) to develop during embryogenesis and development." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000105 name: Enlarged kidneys def: "An abnormal increase in the size of the kidney." [HPO:probinson] comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. synonym: "Large kidney" RELATED [] synonym: "Large kidneys" EXACT [] synonym: "Nephromegaly" EXACT [] synonym: "Renal enlargement" EXACT [] xref: UMLS:C0542518 "Enlarged kidneys" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000107 name: Renal cyst alt_id: HP:0000088 alt_id: HP:0000109 def: "A fluid filled sac in the kidney." [Eurenomics:fschaefer] synonym: "Cystic kidney disease" RELATED [] synonym: "CYSTIC KIDNEYS" RELATED [HPO:skoehler] synonym: "RENAL CYSTS" RELATED [HPO:skoehler] xref: UMLS:C0268800 "Renal cysts" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000108 name: Renal corticomedullary cysts def: "The presence of multiple cysts at the border between the renal cortex and medulla." [HPO:probinson] synonym: "Corticomedullary renal cysts" EXACT [] synonym: "Renal corticomedullary cystic disease" EXACT [] xref: UMLS:C1968619 "Corticomedullary renal cysts" is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormality of the renal cortex is_a: HP:0100957 ! Abnormality of the renal medulla [Term] id: HP:0000110 name: Renal dysplasia alt_id: HP:0000116 alt_id: HP:0004721 def: "The presence of developmental dysplasia of the kidney." [HPO:probinson] synonym: "Dysplastic kidneys" EXACT [] synonym: "Renal adysplasia" EXACT [] xref: UMLS:C0266313 "Renotubular dysgenesis" is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia def: "Increased number and size of the juxtaglomerular cells." [Eurenomics:ewuehl] is_a: HP:0000095 ! Abnormality of the glomerulus [Term] id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] xref: UMLS:C0022658 "Kidney disease" is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000113 name: Polycystic kidney dysplasia alt_id: HP:0004716 alt_id: HP:0004739 alt_id: HP:0004740 alt_id: HP:0008645 alt_id: HP:0008673 alt_id: HP:0008699 def: "The presence of multiple cysts in both kidneys." [HPO:probinson] comment: Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. synonym: "Enlarged polycystic kidneys" EXACT [] synonym: "Polycystic kidney disease" EXACT [] synonym: "Polycystic kidneys" EXACT [] xref: MeSH:D007690 "Polycystic kidney diseases" is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000114 name: Proximal tubulopathy alt_id: HP:0000806 def: "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [HPO:probinson] synonym: "Proximal renal tubule defect" EXACT [] synonym: "Proximal renal tubulopathy" EXACT [] synonym: "Proximal tubular defect" EXACT [] synonym: "Proximal tubule dysfunction" EXACT [] synonym: "Selective proximal tubular damage" EXACT [] xref: UMLS:C1859342 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0000117 name: Renal phosphate wasting def: "High urine phosphate in the presence of hypophosphatemia." [HPO:probinson] synonym: "Decreased renal tubular phosphate reabsorption" EXACT [] synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate" EXACT [] synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TMP/GFR)" EXACT [] synonym: "Tubular phosphate reabsorption low" EXACT [] xref: UMLS:C1845169 is_a: HP:0012599 ! Abnormal urine phosphate concentration [Term] id: HP:0000118 name: Phenotypic abnormality def: "A phenotypic abnormality." [HPO:probinson] comment: This is the root of the phenotypic abnormality subontology of the HPO. synonym: "Organ abnormality" EXACT [] is_a: HP:0000001 ! All [Term] id: HP:0000119 name: Abnormality of the genitourinary system alt_id: HP:0008658 alt_id: HP:0008688 alt_id: HP:0008704 alt_id: HP:0008713 def: "The presence of any abnormality of the genitourinary system." [HPO:curators] synonym: "Genitourinary abnormality" EXACT [] synonym: "Genitourinary disease" RELATED [] synonym: "Genitourinary dysplasia" RELATED [] synonym: "Genitourinary tract anomalies" EXACT [] synonym: "Genitourinary tract malformation" EXACT [] synonym: "Urogenital abnormalities" EXACT [] synonym: "Urogenital anomalies" EXACT [] xref: MeSH:D014564 "Urogenital Abnormalities" xref: UMLS:C1844502 "GENITOURINARY TRACT ANOMALIES" is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "The presence of any abnormality of the `genitourinary system` (FMA:280610)." xsd:string {xref="HPO:curators"} [Term] id: HP:0000121 name: Nephrocalcinosis def: "Nephrocalcinosis is the deposition of calcium salts in renal parenchyma." [HPO:probinson] comment: Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content. xref: MeSH:D009397 "Nephrocalcinosis" xref: UMLS:C0027709 "Nephrocalcinosis" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000122 name: Unilateral renal agenesis def: "A unilateral form of agenesis of the kidney." [HPO:probinson] synonym: "Unilateral kidney agenesis" EXACT [] xref: UMLS:C0266294 "Unilateral kidney agenesis" is_a: HP:0000104 ! Renal agenesis property_value: HP:0040005 "A `unilateral` (PATO:0000634) form of `agenesis` (MPATH:57) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000123 name: Nephritis alt_id: HP:0008634 def: "The presence of inflammation affecting the kidney." [HPO:probinson] xref: MeSH:D009393 "Nephritis" xref: UMLS:C0027697 "Nephritis" is_a: HP:0012211 ! Abnormal renal physiology property_value: HP:0040005 "The presence of `inflammation` (MPATH:212) affecting the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000124 name: Renal tubular dysfunction synonym: "Renal tubular defect" EXACT [] synonym: "Renal tubular disease" EXACT [] xref: UMLS:C0268709 "Renal tubular defect" is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000125 name: Pelvic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:probinson] xref: UMLS:C0221209 "Pelvic kidney" is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0000126 name: Hydronephrosis def: "Severe distention of the kidney with dilation of the renal pelvis and calices." [HPO:probinson] comment: Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed. xref: MeSH:D006869 "Hydronephrosis" xref: UMLS:C0020295 "Hydronephrosis" is_a: HP:0010946 ! Dilatation of the renal pelvis [Term] id: HP:0000127 name: Renal salt wasting def: "A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s)." [Eurenomics:fschaefer] synonym: "Renal salt-wasting" EXACT [] synonym: "Salt wasting" EXACT [] synonym: "Salt-wasting" EXACT [] xref: UMLS:C1846347 is_a: HP:0012591 ! Abnormal urinary electrolyte concentration [Term] id: HP:0000128 name: Renal potassium wasting def: "High urine potassium in the presence of hypokalemia." [HPO:probinson] comment: A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting. xref: UMLS:C1846348 "Renal potassium wasting" is_a: HP:0012598 ! Abnormal urine potassium concentration [Term] id: HP:0000130 name: Abnormality of the uterus alt_id: HP:0008630 alt_id: HP:0008692 def: "An abnormality of the uterus." [HPO:probinson] synonym: "Uterine abnormalities" EXACT [] synonym: "Uterine malformations" EXACT [] xref: UMLS:C0266383 "Uterine abnormalities" is_a: HP:0000008 ! Abnormality of female internal genitalia property_value: HP:0040005 "An abnormality of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000131 name: Uterine leiomyoma alt_id: HP:0008642 def: "The presence of a leiomyoma of the uterus." [HPO:probinson] comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells. synonym: "Benign uterine leiomyomas" EXACT [] synonym: "Uterine fibroid" EXACT [] is_a: HP:0010784 ! Uterine neoplasm property_value: HP:0040005 "The presence of a `leiomyoma` (MPATH:425) of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000132 name: Menorrhagia alt_id: HP:0100609 def: "Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. " [HPO:probinson, pmid:22594864] synonym: "hypermenorrhea" EXACT [pmid:22594864] xref: UMLS:C0025323 "Menorrhagia" is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0000133 name: Gonadal dysgenesis alt_id: HP:0003243 synonym: "Mixed gonadal dysgenesis" EXACT [] synonym: "Pure gonadal dysgenesis" EXACT [] xref: MeSH:D006059 "Gonadal Dysgenesis" xref: UMLS:C0018051 "Gonadal Dysgenesis" is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000134 name: Female hypogonadism def: "Decreased functionality of the female gonads, i.e., of the ovary." [HPO:probinson] synonym: "Hypogonadism, female" EXACT [] is_a: HP:0000135 ! Hypogonadism is_a: HP:0000137 ! Abnormality of the ovary property_value: HP:0040005 "`Decreased functionality` (PATO:0001624) of the female gonads, i.e., of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000135 name: Hypogonadism def: "A decreased functionality of the gonad." [HPO:curators] comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. xref: MeSH:D007006 "Hypogonadism" xref: UMLS:C0020619 "Hypogonadism" is_a: HP:0000080 ! Abnormality of reproductive system physiology is_a: HP:0008373 ! Puberty and gonadal disorders property_value: HP:0040005 "A `decreased functionality` (PATO:0001624) of the `gonad` (FMA:18250)." xsd:string {xref="HPO:curators"} [Term] id: HP:0000136 name: Bifid uterus def: "The presence of a bifid uterus." [HPO:probinson] comment: A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts. xref: UMLS:C1850327 "Bifid uterus" is_a: HP:0000130 ! Abnormality of the uterus property_value: HP:0040005 "The presence of a `bifid` (PATO:0001572) `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000137 name: Abnormality of the ovary def: "An abnormality of the ovary." [HPO:probinson] synonym: "Abnormality of the ovaries" EXACT [] synonym: "Ovarian disease" RELATED [] is_a: HP:0000008 ! Abnormality of female internal genitalia property_value: HP:0040005 "An abnormality of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000138 name: Ovarian cyst alt_id: HP:0000146 def: "The presence of one or more cysts of the ovary." [HPO:probinson] synonym: "Cystic abnormalities of the ovaries" EXACT [] synonym: "Cystic ovaries" EXACT [] synonym: "Ovarian cystic abnormality" EXACT [] xref: MeSH:D010048 "Ovarian cysts" xref: UMLS:C0029927 "Ovarian Cysts" is_a: HP:0000137 ! Abnormality of the ovary property_value: HP:0040005 "The presence of one or more `cysts` (MPATH:62) of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000139 name: Uterine prolapse alt_id: HP:0100824 def: "The presence of prolapse of the uterus." [HPO:probinson] comment: The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position. xref: MeSH:D014596 "Uterine Prolapse" xref: UMLS:C0042140 "Uterine Prolapse" is_a: HP:0000130 ! Abnormality of the uterus is_a: HP:0100823 ! Genital hernia property_value: HP:0040005 "The presence of `prolapse` (MPATH:626) of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000140 name: Abnormality of the menstrual cycle def: "An abnormality of the ovulation cycle." [HPO:probinson] synonym: "Menstrual abnormalities" RELATED [] is_a: HP:0000008 ! Abnormality of female internal genitalia is_a: HP:0000858 ! Menstrual irregularities property_value: HP:0040005 "An abnormality of the `ovulation cycle` (GO:0042698)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000141 name: Amenorrhea def: "Absence of menses for an interval of time equivalent to a total of ≥3 previous cycles or 6 months." [pmid:22594864] xref: MeSH:D000568 "Amenorrhea" xref: UMLS:C2219717 "amenorrhea" is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000142 name: Abnormality of the vagina alt_id: HP:0008650 def: "An abnormality of the vagina." [HPO:probinson] synonym: "Vaginal malformation" EXACT [] xref: UMLS:C1856023 "Vaginal malformation" is_a: HP:0000008 ! Abnormality of female internal genitalia property_value: HP:0040005 "An abnormality of the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000143 name: Rectovaginal fistula def: "The presence of a fistula between the vagina and the rectum." [HPO:probinson] subset: hposlim_core xref: MEDRA:10051097 "Rectovaginal fistula" xref: MeSH:D012006 "Rectovaginal fistula" xref: SNOMEDCT:65619001 "Rectovaginal fistula" xref: UMLS:C0034895 "Rectovaginal Fistula" is_a: HP:0004320 ! Vaginal fistula is_a: HP:0100590 ! Rectal fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) between the `vagina` (FMA:19949) and the `rectum` (FMA:14544)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000144 name: Decreased fertility synonym: "Abnormal fertility" EXACT [HPO:skoehler] xref: UMLS:C0520927 "Decreased fertility" is_a: HP:0000080 ! Abnormality of reproductive system physiology [Term] id: HP:0000145 name: Transverse vaginal septum synonym: "Transverse vaginal membrane" EXACT [] xref: UMLS:C1858564 "Transverse vaginal septum" is_a: HP:0001153 ! Septate vagina [Term] id: HP:0000147 name: Polycystic ovaries alt_id: HP:0008644 alt_id: HP:0008657 synonym: "Polycystic ovary" EXACT [] synonym: "Polycystic ovary disease" EXACT [] synonym: "Sclerocystic ovaries" EXACT [] xref: UMLS:C0032460 "Polycystic ovaries" is_a: HP:0000138 ! Ovarian cyst [Term] id: HP:0000148 name: Vaginal atresia def: "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [HPO:probinson] xref: UMLS:C1321884 "Vaginal atresia" is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0001827 ! Genital tract atresia [Term] id: HP:0000149 name: Ovarian gonadoblastoma def: "The presence of a gonadoblastoma of the ovary." [eMedicine:986581, HPO:probinson] comment: Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development. synonym: "Gonadoblastoma, female" EXACT [] is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0100615 ! Ovarian neoplasm property_value: HP:0040005 "The presence of a `gonadoblastoma` (MPATH:315) of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson", xref="eMedicine:986581"} [Term] id: HP:0000150 name: Gonadoblastoma alt_id: HP:0006745 def: "The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements." [HPO:probinson] xref: MeSH:D018238 "Gonadoblastoma" xref: UMLS:C0206661 "Gonadoblastoma" is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0100728 ! Germ cell neoplasia property_value: HP:0040005 "The presence of a `gonadoblastoma` (MPATH:315), a `neoplasm` (MPATH:218) of a `gonad` (FMA:18250) that consists of aggregates of germ cells and sex cord elements." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000151 name: Aplasia of the uterus def: "Aplasia of the uterus." [HPO:probinson] synonym: "Absent uterus" EXACT [] synonym: "uterus absent" EXACT [] xref: UMLS:C0425913 "Absent uterus" is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus property_value: HP:0040005 "`Aplasia` (MPATH:58) of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000152 name: Abnormality of head or neck def: "An abnormality of head and neck." [HPO:probinson] synonym: "Head and neck abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of `head and neck` (FMA:280881)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000153 name: Abnormality of the mouth def: "An abnormality of the mouth." [HPO:probinson] subset: hposlim_core xref: MeSH:D009056 "Mouth Abnormalities" xref: UMLS:C0026633 "Mouth Abnormalities" is_a: HP:0000271 ! Abnormality of the face property_value: HP:0040005 "An abnormality of the `mouth` (FMA:49184)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000154 name: Wide mouth alt_id: HP:0000181 alt_id: HP:0002052 def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [pmid:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. subset: hposlim_core synonym: "Broad mouth" EXACT [] synonym: "Large mouth" EXACT [] synonym: "Macrostomia" EXACT [] xref: MeSH:D008265 "Macrostomia" xref: UMLS:C1837534 "Wide mouth" is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000155 name: Oral ulcer def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [HPO:probinson] subset: hposlim_core xref: MeSH:D019226 "Oral Ulcer" xref: SNOMEDCT:26284000 "Ulcer of mouth" xref: UMLS:C0149745 "Oral Ulcers" is_a: HP:0011830 ! Abnormality of oral mucosa [Term] id: HP:0000157 name: Abnormality of the tongue def: "Any abnormality of the tongue." [HPO:probinson] subset: hposlim_core synonym: "Tongue abnormality" EXACT [] xref: UMLS:C0878638 "Tongue abnormality" is_a: HP:0000163 ! Abnormality of the oral cavity property_value: HP:0040005 "Any abnormality of the `tongue` (FMA:54640)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000158 name: Macroglossia alt_id: HP:0000203 def: "Increased length and width of the tongue." [pmid:19125428] comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. subset: hposlim_core synonym: "Hyperplasia of the tongue" EXACT [] synonym: "Hypertrophy of the tongue" EXACT [] synonym: "Large tongue" EXACT [] synonym: "Tongue hypertrophy" EXACT [] xref: MeSH:D008260 "Macroglossia" xref: UMLS:C0009677 "Macroglossia" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0000159 name: Abnormality of the lip def: "An abnormality of the lip." [HPO:probinson] synonym: "Lip abnormality" EXACT [] xref: UMLS:C2183966 "lip abnormalities" is_a: HP:0000153 ! Abnormality of the mouth property_value: HP:0040005 "An abnormality of the `lip` (FMA:59815)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000160 name: Narrow mouth alt_id: HP:0002261 alt_id: HP:0009095 alt_id: HP:0009096 def: "Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." [pmid:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width. subset: hposlim_core synonym: "Microstomia" EXACT [] synonym: "Small mouth" EXACT [] synonym: "Small oral aperture" EXACT [] xref: MeSH:D008865 "Microstomia" xref: UMLS:C0026034 "Microstomia" xref: UMLS:C1837735 "Small mouth" is_a: HP:0011337 ! Abnormality of mouth size property_value: HP:0040005 "Distance between the commissures of the `mouth` (FMA:49184) more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective)." xsd:string {xref="pmid:19125428"} [Term] id: HP:0000161 name: Median cleft lip def: "A type of cleft lip presenting as a midline (median) gap in the upper lip." [HPO:probinson] subset: hposlim_core synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 "Median cleft lip" is_a: HP:0000204 ! Cleft upper lip property_value: HP:0040005 "A type of `cleft lip` (HP:0000204) presenting as a midline (median) gap in the upper lip." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000162 name: Glossoptosis def: "Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly." [HPO:probinson, pmid:19125428] comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. subset: hposlim_core xref: SNOMEDCT:3639002 "Glossoptosis" xref: UMLS:C0267048 "Glossoptosis" is_a: HP:0000157 ! Abnormality of the tongue property_value: HP:0040005 "Posterior displacement of the tongue into the pharynx, i.e., a `tongue` (FMA:54640) that is `mislocalised posteriorly` (PATO:0001922)." xsd:string {xref="HPO:probinson", xref="pmid:19125428"} [Term] id: HP:0000163 name: Abnormality of the oral cavity def: "Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth." [HPO:probinson] is_a: HP:0000153 ! Abnormality of the mouth property_value: HP:0040005 "Abnormality of the `oral cavity` (FMA:20292), i.e., the opening or hollow part of the mouth." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000164 name: Abnormality of the teeth alt_id: HP:0001567 alt_id: HP:0006296 alt_id: HP:0006348 def: "Any abnormality of the teeth." [HPO:ibailleulforestier] comment: Any abnormality of the primary (deciduous) or permanent teeth. subset: hposlim_core synonym: "Abnormal dentition" EXACT [] synonym: "Abnormal teeth" EXACT [] synonym: "Dental abnormalities" EXACT [] synonym: "Dental abnormality" EXACT [] synonym: "Dental anomalies" EXACT [] synonym: "Tooth abnormalities" RELATED [] xref: MeSH:D014071 "Tooth Abnormalities" xref: UMLS:C0040427 "Tooth Abnormalities" xref: UMLS:C0262444 "Dental abnormalities" is_a: HP:0000163 ! Abnormality of the oral cavity property_value: HP:0040005 "Any abnormality of the `teeth` (FMA:12516)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000166 name: Severe periodontitis def: "A severe form of periodontitis." [HPO:probinson] is_a: HP:0000704 ! Periodontitis property_value: HP:0040005 "A `severe` (PATO:0000396) form of `periodontitis` (HP:0000165)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000168 name: Abnormality of the gingiva def: "Any abnormality of the gingiva (also known as gums)." [HPO:probinson] comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. subset: hposlim_core synonym: "Gingival abnormality" EXACT [] xref: UMLS:C0017563 "Gingival disorder" is_a: HP:0000163 ! Abnormality of the oral cavity is_a: HP:0011830 ! Abnormality of oral mucosa property_value: HP:0040005 "Any abnormality of the `gingiva` (FMA:59762) (also known as gums)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000169 name: Gingival fibromatosis def: "The presence of fibrosis of the gingiva." [HPO:probinson] comment: Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. subset: hposlim_core synonym: "Gingival fibroma" EXACT [] synonym: "Gingival fibrous nodules" EXACT [HPO:curators] xref: MeSH:D005351 "Fibromatosis, Gingival" xref: UMLS:C0016049 "Fibromatosis, Gingival" is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010614 ! Fibroma property_value: HP:0040005 "The presence of `fibrosis` (MPATH:181) of the `gingiva` (FMA:59762)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000171 name: Microglossia alt_id: HP:0000226 alt_id: HP:0009079 def: "Decreased length and width of the tongue." [pmid:19125428] comment: Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. subset: hposlim_core synonym: "Hypoglossia" EXACT [] synonym: "Hypoplasia of the tongue" EXACT [] synonym: "Hypoplastic tongue" EXACT [] synonym: "Rudimentary tongue" EXACT [] synonym: "Small tongue" EXACT [] xref: MeSH:D014059 "Microglossia" xref: SNOMEDCT:249380003 "Small tongue" xref: UMLS:C0025988 "Microglossia" is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue property_value: HP:0040005 "Decreased length and width of the `tongue` (FMA:54640)." xsd:string {xref="pmid:19125428"} [Term] id: HP:0000172 name: Abnormality of the uvula def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [HPO:probinson] subset: hposlim_core is_a: HP:0100736 ! Abnormality of the soft palate property_value: HP:0040005 "Abnormality of the `uvula` (FMA:55022), the conic projection from the posterior edge of the middle of the soft palate." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000174 name: Abnormality of the palate def: "Any abnormality of the palate, i.e., of roof of the mouth)." [HPO:probinson] subset: hposlim_core synonym: "Palate abnormality" EXACT [] is_a: HP:0000163 ! Abnormality of the oral cavity property_value: HP:0040005 "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000175 name: Cleft palate def: "Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson] comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. subset: hposlim_core xref: MeSH:D002972 "Cleft palate" xref: SNOMEDCT:87979003 "Cleft palate" xref: UMLS:C2240378 "cleft palate" is_a: HP:0000202 ! Oral cleft is_a: HP:0100737 ! Abnormality of the hard palate property_value: HP:0040005 "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000176 name: Submucous cleft hard palate alt_id: HP:0000208 alt_id: HP:0002746 alt_id: HP:0009091 def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [HPO:probinson, pmid:19779505] synonym: "Submucosal cleft palate" EXACT [] synonym: "Submucous clefting" RELATED [] xref: UMLS:C0432090 "Cleft hard palate NOS" xref: UMLS:C0432103 "Submucous cleft palate" xref: UMLS:C1845577 "Submucous clefting" is_a: HP:0100737 ! Abnormality of the hard palate is_a: HP:0410005 ! cleft hard palate [Term] id: HP:0000177 name: Abnormality of upper lip def: "An abnormality of the upper lip." [HPO:probinson] subset: hposlim_core is_a: HP:0000159 ! Abnormality of the lip property_value: HP:0040005 "An abnormality of the `upper lip` (FMA:59817)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000178 name: Abnormality of lower lip def: "An abnormality of the lower lip." [HPO:probinson] subset: hposlim_core is_a: HP:0000159 ! Abnormality of the lip property_value: HP:0040005 "An abnormality of the `lower lip` (FMA:59818)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000179 name: Thick lower lip vermilion alt_id: HP:0000170 def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should\nbe compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. synonym: "Full lower lip" RELATED [] synonym: "Prominent lower lip" EXACT [] synonym: "Thick lower lip" RELATED [] xref: UMLS:C1836543 "Thick lips" xref: UMLS:C1839739 "Prominent lower lip" is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000180 name: Lobulated tongue def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [pmid:19125428] comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes. subset: hposlim_core synonym: "Lobulate tongue" EXACT [] xref: SNOMEDCT:253752000 "Lobulated tongue" xref: UMLS:C0431564 "Lobulated tongue" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000182 name: Movement abnormality of the tongue is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000183 name: Difficulty in tongue movements is_a: HP:0000182 ! Movement abnormality of the tongue [Term] id: HP:0000185 name: Cleft soft palate def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [HPO:curators] xref: UMLS:C0432098 "Cleft soft palate NOS" is_a: HP:0100736 ! Abnormality of the soft palate is_a: HP:0410004 ! cleft secondary palate [Term] id: HP:0000187 name: Broad alveolar ridges synonym: "Broad alveolar margins" EXACT [] synonym: "Widened alveolar ridges" EXACT [] xref: UMLS:C1857948 "Broad alveolar ridges" is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0000188 name: Short upper lip alt_id: HP:0200087 def: "Decreased width of the upper lip." [HPO:probinson] xref: UMLS:C1848977 "Short upper lip" is_a: HP:0000177 ! Abnormality of upper lip property_value: HP:0040005 "`Decreased width` (PATO:0000599) of the `upper lip` (FMA:59817)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000189 name: Narrow palate def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. subset: hposlim_core xref: UMLS:C1398312 "Narrow palate" is_a: HP:0000174 ! Abnormality of the palate [Term] id: HP:0000190 name: Abnormality of oral frenula def: "An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [HPO:probinson] is_a: HP:0000163 ! Abnormality of the oral cavity property_value: HP:0040005 "An abnormality of the `lingual frenulum` (FMA:59820), that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000191 name: Accessory oral frenulum def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [pmid:19125428] comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. subset: hposlim_core synonym: "Extra oral frenulum" EXACT [] synonym: "Supernumerary oral frenulum" EXACT [] xref: UMLS:C1850258 "Oral frenula" is_a: HP:0000190 ! Abnormality of oral frenula [Term] id: HP:0000193 name: Bifid uvula alt_id: HP:0000173 def: "Uvula separated into two parts most easily seen at the tip." [pmid:19125428] subset: hposlim_core synonym: "Cleft uvula" EXACT [] synonym: "Uvula bifida" EXACT [] xref: SNOMEDCT:18910001 "Cleft uvula" xref: UMLS:C0266122 "Cleft uvula" is_a: HP:0000172 ! Abnormality of the uvula property_value: HP:0040005 "`Uvula` (FMA:55022) separated into two parts most easily seen at the tip." xsd:string {xref="pmid:19125428"} [Term] id: HP:0000194 name: Open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson] synonym: "OPEN MOUTH APPEARANCE" RELATED [HPO:skoehler] xref: UMLS:C0240379 "Open mouth" is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000196 name: Lower lip pit def: "Depression located on the vermilion of the lower lip, usually paramedian." [HPO:sdoelken, pmid:19125428] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). xref: UMLS:C1861544 "Lower lip pits" is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0100269 ! Paramedian lip pit property_value: HP:0040005 "Depression located on the `vermilion of the lower lip` (FMA:59828), usually paramedian." xsd:string {xref="HPO:sdoelken", xref="pmid:19125428"} [Term] id: HP:0000197 name: Abnormality of parotid gland def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [HPO:curators] is_a: HP:0010286 ! Abnormality of the salivary glands [Term] id: HP:0000198 name: Absence of Stensen duct synonym: "Absent stensen duct" EXACT [] xref: UMLS:C1835603 "Absent Stensen duct" is_a: HP:0000197 ! Abnormality of parotid gland [Term] id: HP:0000199 name: Tongue nodules xref: UMLS:C0241438 "Tongue nodules" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000200 name: Short lingual frenulum def: "The presence of an abnormally short lingual frenulum." [HPO:probinson] synonym: "Short tongue frenulum" EXACT [] xref: UMLS:C1849949 "Short lingual frenulum" is_a: HP:0000190 ! Abnormality of oral frenula property_value: HP:0040005 "The presence of an abnormally short `lingual frenulum` (FMA:59820)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000201 name: Pierre-Robin sequence def: "Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate." [HPO:probinson] synonym: "Pierre Robin sequence" EXACT [] synonym: "Robin sequence" EXACT [] xref: MeSH:D010855 "Pierre Robin Syndrome" xref: UMLS:C0031900 "Pierre Robin sequence" is_a: HP:0000153 ! Abnormality of the mouth property_value: HP:0040005 "Pierre Robin malformation is a sequence of developmental malformations characterized by `micrognathia (mandibular hypoplasia)` (HP:0000347), `glossoptosis` (HP:0000162) and `cleft palate` (HP:0000175)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000202 name: Oral cleft def: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson] synonym: "Cleft lip, cleft palate" NARROW [] synonym: "Cleft lip/palate" RELATED [] synonym: "Oral clefting" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000204 name: Cleft upper lip def: "A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] synonym: "Cleft lip" RELATED [] synonym: "Cleft of upper lip" RELATED [] xref: MeSH:D002971 "Cleft lip" xref: UMLS:C0008924 "Cleft Lip" is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000202 ! Oral cleft property_value: HP:0040005 "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000205 name: Pursed lips def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [HPO:probinson] xref: UMLS:C1832130 "Pursed lips" is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000206 name: Glossitis def: "Inflammation of the tongue." [HPO:sdoelken] subset: hposlim_core xref: MeSH:D005928 "Glossitis" xref: SNOMEDCT:45534005 "Glossitis" xref: UMLS:C0017675 "Glossitis" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000207 name: Triangular mouth def: "The presence of a triangular form of the mouth." [HPO:probinson] synonym: "Triangular shaped mouth" EXACT [] xref: UMLS:C1849341 "Triangular mouth" is_a: HP:0011338 ! Abnormality of mouth shape property_value: HP:0040005 "The presence of a `triangular` (PATO:0001875) form of the `mouth` (FMA:49184)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000211 name: Trismus def: "Limitation in the ability to open the mouth." [HPO:curators] xref: MeSH:D014313 "Trismus" xref: UMLS:C0041105 "Trismus" is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000212 name: Gingival overgrowth alt_id: HP:0000195 def: "Hyperplasia of the gingiva (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." [pmid:19125428] comment: This finding is to be distinguished from overgrowth of the alveolar ridge. subset: hposlim_core synonym: "Gingival hyperplasia" EXACT [] synonym: "Gingival hypertrophy" EXACT [] synonym: "Gum hypertrophy" EXACT [] xref: MeSH:D019214 "Gingival Overgrowth" xref: UMLS:C0017566 "Gingival Hyperplasia" is_a: HP:0000168 ! Abnormality of the gingiva property_value: HP:0040005 "`Hyperplasia` (MPATH:134) of the `gingiva` (FMA:59762, that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown." xsd:string {xref="pmid:19125428"} [Term] id: HP:0000214 name: Lip telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips." [HPO:probinson] synonym: "Lip telangiectases" EXACT [] synonym: "TELANGIECTASIA OF THE LIPS" EXACT [HPO:skoehler] xref: UMLS:C1857697 "Lip telangiectases" is_a: HP:0000159 ! Abnormality of the lip is_a: HP:0000228 ! Oral cavity teleangiectasia property_value: HP:0040005 "`Telangiectasia` (MPATH:476) (that is, the presence of small dilated superficial blood vessels) of the `lips` (FMA:59815)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000215 name: Thick upper lip vermilion alt_id: HP:0000231 def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. subset: hposlim_core synonym: "Prominent upper lip" EXACT [] synonym: "Thick upper lip" EXACT [HPO:sdoelken] synonym: "Thick vermilion border of upper lip" EXACT [] xref: UMLS:C1846423 "Prominent upper lip" is_a: HP:0011339 ! Abnormality of upper lip vermillion is_a: HP:0012471 ! Thick vermilion border [Term] id: HP:0000216 name: Broad secondary alveolar ridge synonym: "Secondary alveolar ridges" EXACT [] xref: UMLS:C1839276 "Broad secondary alveolar ridge" is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0000217 name: Xerostomia alt_id: HP:0002709 alt_id: HP:0100756 def: "Dryness of the mouth due to salivary gland dysfunction." [HPO:probinson] subset: hposlim_core synonym: "Dry mouth" EXACT [] synonym: "Reduced salivation" EXACT [] xref: MeSH:D014987 "Xerostomia" xref: UMLS:C0043352 "Xerostomia" is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0000218 name: High palate alt_id: HP:0000156 alt_id: HP:0009080 alt_id: HP:0009082 alt_id: HP:0009097 def: "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428] comment: The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately. synonym: "High arched palate" EXACT [] synonym: "High narrow palate" EXACT [] synonym: "High, arched palate" EXACT [] synonym: "High-arched palate" EXACT [] synonym: "Narrow and high arched palate" EXACT [] synonym: "Narrow, high-arched palate" EXACT [] synonym: "Narrow, highly arched palate" EXACT [] synonym: "Palate high-arched" EXACT [] xref: UMLS:C0240635 "High arched palate" xref: UMLS:C1398297 "High palate" is_a: HP:0000174 ! Abnormality of the palate [Term] id: HP:0000219 name: Thin upper lip vermilion alt_id: HP:0200062 alt_id: HP:0200086 def: "Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. subset: hposlim_core synonym: "Thin upper lip" EXACT [HPO:skoehler] synonym: "THIN UPPER LIPS" RELATED [HPO:skoehler] synonym: "Thin vermilion border of upper lip" EXACT [] xref: UMLS:C1865017 "Thin upper lip" is_a: HP:0000233 ! Thin vermilion border is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0000220 name: Velopharyngeal insufficiency def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [DDD:jhurst] synonym: "Velopharyngeal incompetence" EXACT [] xref: MeSH:D014681 "Velopharyngeal Insufficiency" xref: UMLS:C0042454 "Velopharyngeal Incompetence" is_a: HP:0100736 ! Abnormality of the soft palate [Term] id: HP:0000221 name: Furrowed tongue def: "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428] comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. subset: hposlim_core synonym: "Prominent tongue grooves" EXACT [] synonym: "Scrotal tongue" EXACT [] xref: MeSH:D014063 "Tongue, Fissured" xref: UMLS:C0040412 "Tongue, Furrowed" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000222 name: Gingival hyperkeratosis alt_id: HP:0007539 def: "Hyperkeratosis of the gingiva." [HPO:ibailleulforestier] comment: The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. synonym: "Hyperkeratosis, gingival" EXACT [] xref: UMLS:C1857013 "Gingival hyperkeratosis" is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0000962 ! Hyperkeratosis property_value: HP:0040005 "`Hyperkeratosis` (MPATH:154) of the `gingiva` (FMA:59762)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000223 name: Abnormality of taste sensation is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0000224 name: Decreased taste sensation synonym: "Decreased taste" EXACT [] xref: UMLS:C1837498 "Decreased taste sensation" is_a: HP:0000223 ! Abnormality of taste sensation [Term] id: HP:0000225 name: Gingival bleeding alt_id: HP:0000167 def: "Hemorrhage affecting the gingiva." [HPO:ibailleulforestier] synonym: "Oral bleeding" EXACT [] xref: UMLS:C0017565 "Gingival bleeding" xref: UMLS:C0029163 "Oral bleeding" is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0001892 ! Abnormal bleeding property_value: HP:0040005 "`Hemorrhage` (MPATH:119) affecting the `gingiva` (FMA:59762)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000227 name: Tongue telangiectasia def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue." [HPO:probinson] xref: UMLS:C1857698 "Tongue telangiectases" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000228 ! Oral cavity teleangiectasia property_value: HP:0040005 "`Telangiectasia` (MPATH:476) (that is, the presence of small dilated superficial blood vessels) of the tongue." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000228 name: Oral cavity teleangiectasia def: "Presence of teleangiectases in the oral cavity." [HPO:probinson] is_a: HP:0011830 ! Abnormality of oral mucosa is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000230 name: Gingivitis def: "Inflammation of the gingiva." [HPO:probinson] subset: hposlim_core xref: MeSH:D005891 "Gingivitis" xref: SNOMEDCT:66383009 "Gingivitis" xref: UMLS:C0017574 "Gingivitis" is_a: HP:0000168 ! Abnormality of the gingiva property_value: HP:0040005 "`Inflammation` (MPATH:212) of the `gingiva` (FMA:59762)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000232 name: Everted lower lip vermilion alt_id: HP:0000184 alt_id: HP:0002264 alt_id: HP:0002712 alt_id: HP:0004665 alt_id: HP:0009086 alt_id: HP:0009093 def: "An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." [pmid:19125428] comment: In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term. subset: hposlim_core synonym: "Drooping lower lip" EXACT [] synonym: "Everted lower lip" EXACT [] synonym: "Everted prominent lower lip" EXACT [] synonym: "Protruding lower lip" RELATED [] xref: UMLS:C1866234 "Protruding lower lip" is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0012472 ! Eclabion property_value: HP:0040005 "An abnormal configuration of the `lower lip` (FMA:59818) such that it is turned outward i.e., `everted` (PATO:0001597), with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view." xsd:string {xref="pmid:19125428"} [Term] id: HP:0000233 name: Thin vermilion border alt_id: HP:0000213 def: "Reduced width of the \"skin of vermilion border region of upper lip\" (FMA:312645)." [HPO:probinson] comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. synonym: "Thin lips" EXACT [] synonym: "THIN VERMILION BORDERS" RELATED [HPO:skoehler] synonym: "Thin vermillion" EXACT [] xref: UMLS:C0578038 "Thin lips" xref: UMLS:C1849947 "Thin vermillion border" is_a: HP:0000159 ! Abnormality of the lip [Term] id: HP:0000234 name: Abnormality of the head def: "An abnormality of the head." [HPO:probinson] synonym: "Head abnormality" EXACT [] is_a: HP:0000152 ! Abnormality of head or neck property_value: HP:0040005 "An abnormality of the `head` (FMA:7154)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000235 name: Abnormality of the fontanelles or cranial sutures def: "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments )." [HPO:probinson, pmid:12825844] comment: Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months. is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0000236 name: Abnormality of the anterior fontanelle def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [HPO:curators] is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000237 name: Small anterior fontanelle def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [HPO:probinson] synonym: "Small anterior fontanel" EXACT [] xref: UMLS:C1859455 "Small anterior fontanel" is_a: HP:0000236 ! Abnormality of the anterior fontanelle property_value: HP:0040005 "Abnormally decreased size of the `anterior fontanelle` (FMA:75439) with respect to age-dependent norms." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000238 name: Hydrocephalus alt_id: HP:0007189 alt_id: HP:0008503 def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, pmid:18211712, pmid:19410151] comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. synonym: "Hydrocephaly" EXACT [] synonym: "Nonsyndromal hydrocephalus" EXACT [] xref: MeSH:D006849 "Hydrocephalus" xref: UMLS:C0020255 "Hydrocephalus" is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0000239 name: Large fontanelles alt_id: HP:0004473 def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:probinson] comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). synonym: "Enlarged fontanelles" EXACT [] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] synonym: "Large, late-closing fontanelle" EXACT [] synonym: "Wide fontanelles" EXACT [] xref: UMLS:C0456132 "Wide fontanelle" is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000240 name: Abnormality of skull size def: "Any abnormality of the size of the skull." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000242 name: Parietal bossing alt_id: HP:0004641 def: "Parietal bossing is a marked prominence in the parietal region." [HPO:probinson] synonym: "Biparietal bossing" EXACT [] synonym: "Bossing of parietal bone" EXACT [] xref: UMLS:C1856227 "Parietal bossing" is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0000243 name: Trigonocephaly def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [pmid:19125436] comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. subset: hposlim_core xref: UMLS:C0265535 "Trigonocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000244 name: Brachyturricephaly synonym: "Turribrachycephaly" EXACT [] xref: UMLS:C1843494 "Brachyturricephaly" is_a: HP:0000248 ! Brachycephaly is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000245 name: Abnormality of the sinuses def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [HPO:curators] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0000246 name: Sinusitis def: "Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [HPO:probinson] subset: hposlim_core xref: MeSH:D012852 "Sinusitis" xref: SNOMEDCT:36971009 "Sinusitis" xref: UMLS:C0037199 "Sinusitis" is_a: HP:0000245 ! Abnormality of the sinuses property_value: HP:0040005 "Inflammation of the `paranasal sinuses` (FMA:59679) owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000248 name: Brachycephaly alt_id: HP:0002258 alt_id: HP:0004479 alt_id: HP:0008512 def: "An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [HPO:probinson, pmid:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. subset: hposlim_core xref: UMLS:C0221356 "Brachycephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology property_value: HP:0040005 "An `abnormality of skull shape` (HP:0002648) characterized by a `decreased anterior-posterior diameter` (PATO:0002042). That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} [Term] id: HP:0000250 name: Dense calvaria def: "An abnormal increase of density of the bones making up the calvaria." [HPO:curators] xref: UMLS:C1854834 "Dense calvaria" is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0000252 name: Microcephaly alt_id: HP:0001366 alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium." [pmid:19125436, pmid:9683597] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. subset: hposlim_core synonym: "Decreased head circumference" EXACT [] synonym: "Reduced head circumference" EXACT [] synonym: "Small head circumference" EXACT [] xref: MeSH:D008831 "Microcephaly" xref: UMLS:C0025958 "Microcephaly" is_a: HP:0000240 ! Abnormality of skull size is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum property_value: HP:0040005 "Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the `cranium` (FMA:46565)." xsd:string {xref="pmid:19125436", xref="pmid:9683597"} [Term] id: HP:0000253 name: Progressive microcephaly def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:probinson] synonym: "Microcephaly, postnatal, progressive" EXACT [] synonym: "Microcephaly, progressive" EXACT [HPO:skoehler] is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000255 name: Acute sinusitis def: "An acute form of sinusitis." [HPO:probinson] xref: UMLS:C0149512 "Acute sinusitis NOS" is_a: HP:0000246 ! Sinusitis property_value: HP:0040005 "An `acute` (PATO:0000389) form of `sinusitis` (HP:0000246)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000256 name: Macrocephaly alt_id: HP:0005491 alt_id: HP:0005496 def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [pmid:19125436] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. subset: hposlim_core synonym: "Increased head circumference" EXACT [] synonym: "Large head" EXACT [] synonym: "Large head circumference" EXACT [] synonym: "Macrocrania" EXACT [] xref: MeSH:D058627 "Macrocephaly" xref: UMLS:C0221355 "Macrocephaly" is_a: HP:0000240 ! Abnormality of skull size property_value: HP:0040005 "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the `cranium` (FMA:46565)." xsd:string {xref="pmid:19125436"} [Term] id: HP:0000260 name: Wide anterior fontanel def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] synonym: "Large anterior fontanel" EXACT [] synonym: "Large anterior fontanelle" EXACT [] synonym: "LARGE ANTERIOR FONTANELS" RELATED [HPO:skoehler] synonym: "Large open anterior fontanel" EXACT [] synonym: "Large open anterior fontanelle" EXACT [] synonym: "Wide anterior fontanelle" EXACT [] synonym: "Wide open anterior fontanelle" EXACT [] xref: UMLS:C1866134 "Wide anterior fontanel" is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000239 ! Large fontanelles property_value: HP:0040005 "Enlargement of the `anterior fontanelle` (FMA:75439) with respect to age-dependent norms." xsd:string {xref="HPO:curators"} [Term] id: HP:0000262 name: Turricephaly alt_id: HP:0001356 def: "Tall head relative to width and length." [pmid:19125436] comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. subset: hposlim_core xref: UMLS:C0030044 "Acrocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000263 name: Oxycephaly def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [HPO:curators] synonym: "Acrocephaly" RELATED [] xref: UMLS:C0030044 "Acrocephaly" is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000264 name: Abnormality of the mastoid def: "An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [HPO:pnrobinson] subset: hposlim_core is_a: HP:0000929 ! Abnormality of the skull property_value: HP:0040005 "An abnormality of the `mastoid process` (FMA:52872), which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." xsd:string {xref="HPO:pnrobinson"} [Term] id: HP:0000265 name: Mastoiditis xref: MeSH:D008417 "Mastoiditis" xref: UMLS:C0024904 "Mastoiditis" is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0000267 name: Cranial asymmetry def: "Asymmetry of the bones of the skull." [HPO:curators] xref: UMLS:C1860245 "Cranial asymmetry" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000268 name: Dolichocephaly alt_id: HP:0000258 alt_id: HP:0005440 def: "An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [HPO:probinson, pmid:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). subset: hposlim_core synonym: "Large dolichocephalic skull" EXACT [] synonym: "Scaphocephaly" EXACT [] synonym: "Turridolichocephaly" EXACT [] xref: UMLS:C0221358 "Dolichocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology property_value: HP:0040005 "An `abnormality of skull shape` (HP:0002648) characterized by a `increased anterior-posterior diameter` (PATO:0002043), i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} [Term] id: HP:0000269 name: Prominent occiput alt_id: HP:0004489 def: "Increased convexity of the occiput (posterior part of the skull)." [pmid:19125436] comment: Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately. subset: hposlim_core xref: UMLS:C1853737 "Prominent occiput" is_a: HP:0011217 ! Abnormal shape of the occiput property_value: HP:0040005 "Increased convexity of the `occiput` (FMA:49187) (posterior part of the skull)." xsd:string {xref="pmid:19125436"} [Term] id: HP:0000270 name: Delayed cranial suture closure alt_id: HP:0002704 alt_id: HP:0003794 def: "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:probinson] synonym: "Broad late closing cranial sutures" EXACT [] synonym: "Delayed closure of fontanel" EXACT [] synonym: "Delayed closure of fontanelles" EXACT [] synonym: "Delayed closure of the fontanelles" EXACT [] synonym: "Delayed fontanel closure" EXACT [] synonym: "Delayed fontanelle closure" EXACT [] synonym: "Late closing fontanelles" EXACT [] synonym: "Late closure of fontanelle" EXACT [] synonym: "Late-closing fontanelle" EXACT [] synonym: "Open sutures" EXACT [] xref: UMLS:C1096211 "Delayed fontanel closure" xref: UMLS:C1970468 "Open sutures" is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0000271 name: Abnormality of the face def: "An abnormality of the face." [HPO:probinson] subset: hposlim_core is_a: HP:0000234 ! Abnormality of the head property_value: HP:0040005 "An abnormality of the `face` (FMA:24728)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000272 name: Malar flattening alt_id: HP:0000312 alt_id: HP:0000332 alt_id: HP:0004642 alt_id: HP:0004658 alt_id: HP:0004671 alt_id: HP:0005319 alt_id: HP:0005443 alt_id: HP:0005455 alt_id: HP:0100846 def: "Underdevelopment of the malar (frontal) process of the maxilla, appreciated in profile and/or by palpation." [HPO:probinson, pmid:19125436] comment: The malar process is the most medial and superior portion of the maxilla, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. subset: hposlim_core synonym: "Depressed malar region" EXACT [] synonym: "Flat midface" EXACT [] synonym: "Malar hypoplasia" EXACT [] synonym: "Mid-face hypoplasia" EXACT [] xref: UMLS:C1836641 "Malar hypoplasia" is_a: HP:0001999 ! Abnormal facial shape is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0005557 ! Abnormality of the zygomatic arch is_a: HP:0012369 ! Malar anomaly [Term] id: HP:0000273 name: Facial grimacing xref: UMLS:C0234853 "Facial grimacing" is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0000274 name: Small face def: "A face that is short (HP:0011219) and narrow (HP:0000275)." [HP:probinson] comment: This term represents a combination of two terms, short face and narrow face. synonym: "Small facies" EXACT [] xref: UMLS:C1855538 "Small face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000275 name: Narrow face alt_id: HP:0000318 def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [pmid:19125436] comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. subset: hposlim_core synonym: "Narrow facies" EXACT [] synonym: "Thin face" RELATED [] xref: UMLS:C1837463 "Narrow face" is_a: HP:0000274 ! Small face [Term] id: HP:0000276 name: Long face alt_id: HP:0000334 def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [pmid:19125436] comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. subset: hposlim_core xref: UMLS:C1836047 "Long face" is_a: HP:0100729 ! Large face [Term] id: HP:0000277 name: Abnormality of the mandible alt_id: HP:0000209 def: "Any abnormality of the mandible, the bone of the lower jaw." [HPO:probinson] subset: hposlim_core is_a: HP:0011821 ! Abnormality of facial skeleton property_value: HP:0040005 "Any abnormality of the `mandible` (FMA:52748), the bone of the lower jaw." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000278 name: Retrognathia alt_id: HP:0002053 alt_id: HP:0002954 def: "An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] subset: hposlim_core synonym: "Receding chin" EXACT [] synonym: "Receding mandible" EXACT [] xref: SNOMEDCT:109515000 "Congenital retrognathism" xref: UMLS:C0035353 "Retrognathia" xref: UMLS:C1850067 "Receding chin" is_a: HP:0000277 ! Abnormality of the mandible property_value: HP:0040005 "An abnormality in which the `mandible` (FMA:52748) is `mislocalised posteriorly` (PATO:0001922)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000280 name: Coarse facial features alt_id: HP:0000281 alt_id: HP:0004640 def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [pmid:19125436] subset: hposlim_core synonym: "Coarse face" EXACT [] synonym: "Coarse facies" EXACT [] xref: UMLS:C1854600 "Coarse facial features" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000282 name: Facial edema xref: UMLS:C0542571 "Facial edema" is_a: HP:0000969 ! Edema is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000283 name: Broad face def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [pmid:19125436] comment: Note that broad face is distinct from round face. subset: hposlim_core xref: UMLS:C1859680 "Broad face" is_a: HP:0100729 ! Large face [Term] id: HP:0000284 name: Abnormality of the ocular region is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000286 name: Epicanthus alt_id: HP:0000624 def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:probinson] comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. subset: hposlim_core synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] synonym: "Epicanthus palpebralis" EXACT [] xref: UMLS:C0678230 "Epicanthus" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000287 name: Increased facial adipose tissue def: "An increased amount of subcutaneous fat tissue in the face." [HPO:probinson] is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000288 name: Abnormality of the philtrum alt_id: HP:0011216 def: "An abnormality of the philtrum." [HPO:probinson] comment: The paralabial region is the region surrounding the lips and includes the philtrum. subset: hposlim_core synonym: "Abnormal philtrum" EXACT [] synonym: "Abnormality of the paralabial region" EXACT [] xref: UMLS:C1857045 "Abnormal philtrum" is_a: HP:0000153 ! Abnormality of the mouth property_value: HP:0040005 "An abnormality of the `philtrum` (FMA:59819)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000289 name: Broad philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [pmid:19152422] comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. subset: hposlim_core synonym: "Wide philtrum" EXACT [] xref: UMLS:C1854111 "Wide philtrum" is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000290 name: Abnormality of the forehead def: "An anomalyof the forehead." [HPO:probinson] subset: hposlim_core is_a: HP:0000271 ! Abnormality of the face property_value: HP:0040005 "An anomalyof the `forehead` (FMA:63864)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000291 name: Abnormality of facial adipose tissue is_a: HP:0009124 ! Abnormality of adipose tissue is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000292 name: Loss of facial adipose tissue def: "Loss of normal subcutaneous fat tissue in the face." [HPO:curators] synonym: "Loss of facial subcutaneous adipose tissue" EXACT [] synonym: "Loss of subcutaneous adipose tissue from face" EXACT [] is_a: HP:0000291 ! Abnormality of facial adipose tissue is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0000293 name: Full cheeks alt_id: HP:0002262 alt_id: HP:0004427 def: "Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] subset: hposlim_core synonym: "Chubby cheeks" RELATED [] synonym: "Puffy cheeks" RELATED [] xref: UMLS:C0007966 "Cheek" xref: UMLS:C1866231 "Full cheeks" is_a: HP:0004426 ! Abnormality of the cheeks [Term] id: HP:0000294 name: Low anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [pmid:19125436] comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. subset: hposlim_core synonym: "Low frontal hairline" EXACT [] synonym: "Low-set frontal hairline" EXACT [] xref: UMLS:C1842366 "Low anterior hairline" is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000295 name: Doll-like facies def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [HPO:probinson] comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000297 name: Facial hypotonia xref: UMLS:C1845251 "Facial hypotonia" is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0000298 name: Mask-like facies def: "A lack of facial expression often with staring eyes and a slightly open mouth." [HPO:probinson] comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. synonym: "Amimia" EXACT [] synonym: "Expressionless face" EXACT [] synonym: "Masklike facies" EXACT [] xref: UMLS:C0424448 "Mask-like facies" is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000300 name: Oval face def: "A face with a rounded and slightly elongated outline." [HPO:probinson] xref: UMLS:C1849025 "Oval face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000301 name: Abnormality of facial musculature is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000303 name: Mandibular prognathia alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0000328 alt_id: HP:0002051 alt_id: HP:0004648 alt_id: HP:0004656 alt_id: HP:0008514 def: "Abnormal prominence of the chin related to increased length of the mandible." [HPO:probinson] subset: hposlim_core synonym: "Enlarged mandible" EXACT [] synonym: "Large mandible" EXACT [] synonym: "Mandible prognathism" EXACT [] synonym: "Mandibular prognathism" EXACT [] synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Prominent chin" EXACT [] synonym: "Prominent jaw" EXACT [] synonym: "Relative mandibular prognathism" EXACT [] xref: MeSH:D011378 "Prognathism" xref: UMLS:C1839784 "Prominent jaw" xref: UMLS:C1857643 "Mandible prognathism" is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0000306 ! Abnormality of the chin property_value: HP:0040005 "Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000306 name: Abnormality of the chin def: "An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [HPO:probinson, pmid:19125436] subset: hposlim_core is_a: HP:0000271 ! Abnormality of the face property_value: HP:0040005 "An abnormality of the `chin` (FMA:46495), i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} [Term] id: HP:0000307 name: Pointed chin alt_id: HP:0005330 def: "A marked tapering of the lower face to the chin." [pmid:19125436] comment: The two rami of the mandible meet at an acute angle. subset: hposlim_core synonym: "Small pointed chin" EXACT [] xref: UMLS:C1842873 "Pointed chin" is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000308 name: Microretrognathia def: "A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly." [HPO:probinson] synonym: "Retromicrognathia" EXACT [] xref: UMLS:C1839546 "Microretrognathia" is_a: HP:0000278 ! Retrognathia is_a: HP:0000347 ! Micrognathia property_value: HP:0040005 "A form of `developmental hypoplasia` (MPATH:10060) of the `mandible` (FMA:52748) in which the mandible is `mislocalised posteriorly` (PATO:0001922)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000309 name: Abnormality of the midface def: "An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma. Traditionally, the nose and premaxilla are not included in the midface." [HPO:probinson, pmid:19125436] synonym: "Anomaly of the midface" EXACT [] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000311 name: Round face alt_id: HP:0000304 alt_id: HP:0004653 def: "The facial appearance is more circular than usual as viewed from the front." [pmid:19125436] subset: hposlim_core synonym: "Round facial appearance" EXACT [] synonym: "Round facies" EXACT [] synonym: "Round, full face" BROAD [] is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000315 name: Abnormality of the orbital region is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000316 name: Hypertelorism alt_id: HP:0000578 alt_id: HP:0002001 alt_id: HP:0004657 alt_id: HP:0007871 def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [pmid:19125427] subset: hposlim_core synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT [] synonym: "Widely spaced eyes" EXACT [] synonym: "Widened interpupillary distance" EXACT [] xref: MeSH:D006972 "Hypertelorism" xref: UMLS:C0020534 "Ocular hypertelorism" is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000317 name: Facial myokymia alt_id: HP:0004651 def: "Facial myokymia is a fine fibrillary activity of the facial muscles." [HPO:curators] comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. xref: UMLS:C0270871 "Facial Myokymia" is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0002411 ! Myokymia [Term] id: HP:0000319 name: Smooth philtrum alt_id: HP:0000299 alt_id: HP:0000323 alt_id: HP:0004663 def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [pmid:19152422] comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. synonym: "Flat philtrum" EXACT [] synonym: "Indistinct philtrum" EXACT [] synonym: "Philtrum, smooth" EXACT [] synonym: "Simple philtrum" EXACT [] xref: UMLS:C1142533 "Flat philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies xref: UMLS:C1837758 "Bird-like facies" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000321 name: Square face def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [pmid:19125436] xref: UMLS:C1832127 "Square face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000322 name: Short philtrum alt_id: HP:0200090 def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] subset: hposlim_core xref: UMLS:C1861324 "Short philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000324 name: Facial asymmetry alt_id: HP:0003775 def: "An abnormal difference between the left and right sides of the face." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric facies" EXACT [] xref: MeSH:D005146 "Facial Asymmetry" xref: UMLS:C0546952 "Facial asymmetry" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000325 name: Triangular face alt_id: HP:0004645 alt_id: HP:0004662 alt_id: HP:0004668 def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, pmid:19125436] subset: hposlim_core synonym: "Triangular facies" EXACT [] xref: UMLS:C1835884 "Triangular face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000326 name: Abnormality of the maxilla def: "An abnormality of the Maxilla (upper jaw bone)." [HPO:probinson] subset: hposlim_core is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0011821 ! Abnormality of facial skeleton property_value: HP:0040005 "An abnormality of the `Maxilla` (FMA:9711) (upper jaw bone)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000327 name: Hypoplasia of the maxilla alt_id: HP:0004644 def: "Underdevelopment of the Maxilla." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic maxilla" EXACT [] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Maxillar hypoplasia" EXACT [] synonym: "Maxillary hypoplasia" EXACT [] synonym: "Small maxilla" EXACT [] xref: UMLS:C1844602 "Hypoplastic maxilla" is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla property_value: HP:0040005 "Underdevelopment of the `Maxilla` (FMA:9711)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000329 name: Facial hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators] synonym: "Facial hemangiomata" EXACT [] xref: UMLS:C1847881 "Facial hemangioma" is_a: HP:0001028 ! Hemangioma is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000331 name: Short chin def: "Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [HPO:probinson, pmid:19125436] comment: The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension). synonym: "Small chin" RELATED [] xref: UMLS:C1839323 "Small chin" is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000336 name: Prominent supraorbital ridges def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [pmid:19125436] subset: hposlim_core synonym: "Prominent supraorbital ridge" EXACT [] xref: UMLS:C1842060 "Prominent supraorbital ridges" is_a: HP:0100538 ! Abnormality of the supraorbital ridges [Term] id: HP:0000337 name: Broad forehead alt_id: HP:0000352 alt_id: HP:0000354 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [pmid:19125436] comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. subset: hposlim_core synonym: "Wide forehead" EXACT [] xref: UMLS:C1855408 "Broad forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000338 name: Hypomimic face alt_id: HP:0008769 def: "A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation." [HPO:probinson] comment: The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal. synonym: "Dull facial expression" EXACT [] synonym: "Expressionless face" EXACT [] xref: UMLS:C1837824 "Hypomimic face" is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000339 name: Pugilistic facies def: "Coarse facial features reminiscent of those of a boxer." [HPO:probinson] xref: UMLS:C1846011 "'Pugilistic facies'" is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000340 name: Sloping forehead alt_id: HP:0000351 alt_id: HP:0004480 alt_id: HP:0008493 alt_id: HP:0008500 def: "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [pmid:19125436] comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. subset: hposlim_core synonym: "Receding forehead" EXACT [] xref: UMLS:C1857679 "Sloping forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000341 name: Narrow forehead alt_id: HP:0000314 alt_id: HP:0004674 alt_id: HP:0004677 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [pmid:19125436] comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. subset: hposlim_core synonym: "Bitemporal narrowing" EXACT [] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Intertemporal narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Temporal narrowness" EXACT [] xref: UMLS:C1839127 "Narrow forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000343 name: Long philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] subset: hposlim_core xref: UMLS:C1865014 "Long philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000346 name: Whistling appearance def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [HPO:probinson, pmid:856233] xref: UMLS:C1848473 "'Whistling' appearance" is_a: HP:0000205 ! Pursed lips [Term] id: HP:0000347 name: Micrognathia alt_id: HP:0000210 alt_id: HP:0000330 alt_id: HP:0000345 alt_id: HP:0002005 alt_id: HP:0002674 alt_id: HP:0004669 alt_id: HP:0005460 alt_id: HP:0005470 def: "Developmental hypoplasia of the mandible." [HPO:probinson] comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. subset: hposlim_core synonym: "Hypoplasia of mandible" EXACT [] synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] synonym: "Mandibular hypoplasia" EXACT [] synonym: "Small jaw" EXACT [] synonym: "Small mandible" EXACT [] xref: MeSH:D008844 "Micrognathism" xref: SNOMEDCT:32958008 "Congenital micrognathism" xref: UMLS:C0025990 "Micrognathia" is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible property_value: HP:0040005 "`Developmental hypoplasia` (MPATH:10060) of the `mandible` (FMA:52748)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000348 name: High forehead alt_id: HP:0000342 def: "An abnormally increased height of the forehead." [HPO:probinson] xref: UMLS:C0239676 "High forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000349 name: Widow's peak def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [pmid:19125436] comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. subset: hposlim_core is_a: HP:0009890 ! High anterior hairline [Term] id: HP:0000350 name: Small forehead def: "The presence of a forehead that is abnormally small." [HPO:curators] xref: UMLS:C1845250 "Small forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000356 name: Abnormality of the outer ear alt_id: HP:0001752 def: "An abnormality of the external ear." [HPO:probinson] synonym: "Abnormal pinnae" EXACT [] synonym: "Abnormality of the auricle" EXACT [] synonym: "Ear anomalies" EXACT [] synonym: "External ear malformations" EXACT [] synonym: "Malformed pinnae" EXACT [] synonym: "Outer ear abnormality" EXACT [] xref: UMLS:C1846460 "External ear malformations" is_a: HP:0000598 ! Abnormality of the ear property_value: HP:0040005 "An abnormality of the `external ear` (FMA:52781)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000357 name: Abnormal location of ears def: "Abnormal location of the ear." [HPO:probinson] synonym: "External ear position defect" EXACT [] is_a: HP:0000356 ! Abnormality of the outer ear property_value: HP:0040005 "Abnormal location of the `ear` (FMA:52780)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000358 name: Posteriorly rotated ears alt_id: HP:0008535 def: "A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson, pmid:19152421] comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. subset: hposlim_core synonym: "Ear, posterior angulation, increased" EXACT [] synonym: "Posteriorly angulated ears" EXACT [] synonym: "Posteriorly rotated" EXACT [] synonym: "Posteriorly rotated auricles" EXACT [] synonym: "Posteriorly-angulated ears" EXACT [] synonym: "Posteriorly-rotated ears" EXACT [] xref: SNOMEDCT:253251006 "Posteriorly rotated ear" xref: UMLS:C0431478 "Posteriorly rotated ears" is_a: HP:0000357 ! Abnormal location of ears property_value: HP:0040005 "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." xsd:string {xref="HPO:probinson", xref="pmid:19152421"} [Term] id: HP:0000359 name: Abnormality of the inner ear def: "An abnormality of the inner ear." [HPO:probinson] synonym: "Inner ear abnormality" EXACT [] is_a: HP:0000598 ! Abnormality of the ear property_value: HP:0040005 "An abnormality of the `inner ear` (FMA:60909)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000360 name: Tinnitus def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] subset: hposlim_core xref: MeSH:D014012 "Tinnitus" xref: SNOMEDCT:60862001 "Tinnitus" xref: UMLS:C0040264 "Tinnitus" is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000361 name: Pulsatile tinnitus (tympanic paraganglioma) def: "Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear." [HPO:probinson] xref: UMLS:C0751559 "Pulsatile Tinnitus" is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0008629 ! Pulsatile tinnitus [Term] id: HP:0000362 name: Otosclerosis def: "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [HPO:probinson, pmid:15931303] comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. subset: hposlim_core xref: MeSH:D010040 "Otosclerosis" xref: SNOMEDCT:11543004 "Otosclerosis" xref: UMLS:C0029899 "Otosclerosis" is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000363 name: Abnormality of earlobe def: "An abnormality of the lobule of pinna." [HPO:probinson] subset: hposlim_core synonym: "Abnormal earlobe" EXACT [] synonym: "Abnormality of ear lobe" EXACT [] is_a: HP:0000377 ! Abnormality of the pinna property_value: HP:0040005 "An abnormality of the `lobule of pinna` (FMA:60984)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000364 name: Hearing abnormality def: "An abnormality of the sensory perception of sound." [HPO:probinson] comment: According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. is_a: HP:0000598 ! Abnormality of the ear property_value: HP:0040005 "An abnormality of the `sensory perception of sound` (GO:0007605)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000365 name: Hearing impairment alt_id: HP:0000404 alt_id: HP:0001728 alt_id: HP:0001729 alt_id: HP:0001754 alt_id: HP:0008560 alt_id: HP:0008563 def: "A decreased magnitude of the sensory perception of sound." [HPO:probinson] comment: Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. synonym: "Congenital deafness" EXACT [] synonym: "Congenital hearing loss" EXACT [] synonym: "Deafness" EXACT [] synonym: "Hearing defect" EXACT [] synonym: "Hearing loss" RELATED [] synonym: "Hypoacusis" RELATED [] xref: MeSH:D003638 "Deafness" xref: UMLS:C0011053 "Deafness" xref: UMLS:C0262435 "CONGENITAL HEARING LOSS" xref: UMLS:C2029884 "hearing loss" is_a: HP:0000364 ! Hearing abnormality property_value: HP:0040005 "A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000366 name: Abnormality of the nose def: "An abnormality of the nose." [HPO:probinson] subset: hposlim_core is_a: HP:0000271 ! Abnormality of the face property_value: HP:0040005 "An abnormality of the `nose` (FMA:46472)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000368 name: Low-set, posteriorly rotated ears def: "Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)." [HPO:probinson] comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. synonym: "Low-set posteriorly rotated ears" EXACT [] xref: UMLS:C1857486 "Low-set posteriorly rotated ears" is_a: HP:0000358 ! Posteriorly rotated ears is_a: HP:0000369 ! Low-set ears [Term] id: HP:0000369 name: Low-set ears def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Low set ears" EXACT [] synonym: "Lowset ears" EXACT [] synonym: "Melotia" EXACT [] xref: SNOMEDCT:95515009 "Low set ears" xref: UMLS:C0239234 "Low set ears" is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000370 name: Abnormality of the middle ear def: "An abnormality of the middle ear." [HPO:probinson] subset: hposlim_core synonym: "Middle ear abnormalities" EXACT [] synonym: "Middle ear abnormality" EXACT [] xref: UMLS:C1861141 "Middle ear abnormalities" is_a: HP:0000598 ! Abnormality of the ear property_value: HP:0040005 "An abnormality of the `middle ear` (FMA:56513)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000371 name: Acute otitis media def: "Acute otitis media is a short and generally painful infection of the middle ear." [HPO:probinson] xref: UMLS:C0271429 "Acute otitis media" is_a: HP:0000388 ! Otitis media [Term] id: HP:0000372 name: Abnormality of the auditory canal def: "An abnormality of the External acoustic tube (also known as the auditory canal)." [HPO:probinson] synonym: "Auditory canal abnormality" EXACT [] is_a: HP:0000356 ! Abnormality of the outer ear property_value: HP:0040005 "An abnormality of the `External acoustic tube` (FMA:61734) (also known as the auditory canal)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000375 name: Abnormality of cochlea def: "An abnormality of the cochlea." [HPO:probinson] comment: The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain. is_a: HP:0011390 ! Morphological abnormality of the inner ear property_value: HP:0040005 "An abnormality of the `cochlea` (FMA:60201)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000376 name: Incomplete partition of the cochlea type II def: "The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule." [HPO:probinson] synonym: "Mondini malformation" RELATED [] xref: UMLS:C1857078 "Mondini malformation" is_a: HP:0011373 ! Incomplete partition of the cochlea [Term] id: HP:0000377 name: Abnormality of the pinna alt_id: HP:0000390 alt_id: HP:0000398 alt_id: HP:0004465 alt_id: HP:0008562 alt_id: HP:0008566 alt_id: HP:0008567 alt_id: HP:0008580 alt_id: HP:0008582 alt_id: HP:0008602 def: "An abnormality of the pinna, which is also referred to as the auricle or external ear." [HPO:probinson] comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. synonym: "Abnormal form of ears" EXACT [] synonym: "Abnormality of the external ear" EXACT [] synonym: "Abnormally shaped ears" EXACT [] synonym: "Auricular malformation" EXACT [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT [] synonym: "Dysplastic ears" EXACT [] synonym: "Malformation of auricle" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT [] synonym: "Malformed external ears" EXACT [] synonym: "Minor malformation of the auricles" EXACT [] synonym: "Poorly defined conchae" EXACT [] synonym: "Simple ears" EXACT [] xref: UMLS:C1858566 "Malformed auricles" is_a: HP:0000356 ! Abnormality of the outer ear property_value: HP:0040005 "An abnormality of the `pinna` (FMA:56580), which is also referred to as the auricle or external ear." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000378 name: Cupped ear alt_id: HP:0008531 alt_id: HP:0008600 def: "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, pmid:19162421] subset: hposlim_core synonym: "Capuchin ears" RELATED [] synonym: "Cup-shaped ears" EXACT [] synonym: "CUPPED EARS" RELATED [HPO:skoehler] synonym: "Simple, cup-shaped ears" EXACT [] xref: UMLS:C1845447 "Cupped ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000381 name: Stapes ankylosis def: "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [HPO:probinson, pmid:12089654] comment: Stapes ankylosis may be congenital or acquired, in which case it is refered to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. subset: hposlim_core is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000383 name: Abnormality of periauricular region is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000384 name: Preauricular skin tag alt_id: HP:0008575 alt_id: HP:0100278 def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:probinson] synonym: "Periauricular skin tag" EXACT [] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tag, isolated (skin covered and composed of elastic cartilage)" EXACT [] synonym: "Preauricular tags" EXACT [] xref: UMLS:C1860816 "Preauricular skin tag" is_a: HP:0000383 ! Abnormality of periauricular region is_a: HP:0010609 ! Skin tags [Term] id: HP:0000385 name: Small earlobe alt_id: HP:0008616 def: "Reduced volume of the earlobe." [HPO:probinson, pmid:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. subset: hposlim_core synonym: "Hypoplastic earlobes" EXACT [] synonym: "Hypoplastic lobules" EXACT [] synonym: "Small earlobes" EXACT [HPO:skoehler] xref: UMLS:C1845848 "Hypoplastic ear lobes" is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000387 name: Absent earlobe def: "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Earlobe, absent" EXACT [] synonym: "Lobeless ears" EXACT [] xref: UMLS:C1849364 "Lobeless ears" is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000388 name: Otitis media def: "Inflammation or infection of the middle ear." [HPO:probinson] xref: MeSH:D010033 "Otitis Media" xref: UMLS:C0029882 "Otitis Media" is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000389 name: Chronic otitis media alt_id: HP:0008524 def: "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [HPO:probinson] subset: hposlim_core synonym: "Chronic ear infection" RELATED [] synonym: "OTITIS MEDIA, CHRONIC" EXACT [HPO:skoehler] xref: SNOMEDCT:21186006 "Chronic otitis media" xref: UMLS:C0271441 "Chronic otitis media" is_a: HP:0000388 ! Otitis media [Term] id: HP:0000391 name: Thickened helices def: "Increased thickness of thehelix of the ear." [HPO:probinson] subset: hposlim_core synonym: "Thick helix" EXACT [] xref: UMLS:C1842874 "Thickened helices" is_a: HP:0011039 ! Abnormality of the helix property_value: HP:0040005 "`Increased thickness` (PATO:0000591) of the`helix` (FMA:60992) of the ear." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000394 name: Lop ear def: "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [HPO:probinson, pmid:19152421] comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. subset: hposlim_core xref: UMLS:C0266614 "Lop ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000395 name: Prominent antihelix def: "The presence of an abnormally prominent antihelix." [HPO:probinson] subset: hposlim_core xref: UMLS:C1845272 "Prominent antihelix" is_a: HP:0009738 ! Abnormality of the antihelix property_value: HP:0040005 "The presence of an abnormally `prominent` (PATO:0001482) `antihelix` (FMA:60995)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000396 name: Overfolded helix alt_id: HP:0001758 alt_id: HP:0008570 def: "A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [HPO:probinson, pmid:19152421] comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. subset: hposlim_core synonym: "Over-folded helices" EXACT [] synonym: "Overfolded ears" EXACT [] synonym: "Overfolded helices" EXACT [] xref: UMLS:C1837731 "Over-folded helices" is_a: HP:0008544 ! Abnormally folded helix property_value: HP:0040005 "A condition in which the `helix` (FMA:60992) is `folded` (PATO:0001910) over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." xsd:string {xref="HPO:probinson", xref="pmid:19152421"} [Term] id: HP:0000399 name: Prelingual sensorineural hearing impairment alt_id: HP:0001731 def: "A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech." [HPO:probinson] synonym: "Deafness, sensorineural, prelingual" EXACT [] synonym: "Prelingual sensorineural deafness" EXACT [] is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment property_value: HP:0040005 "A form of `sensorineural deafness` (HP:0008538) with either `congenital onset` (HP:0003577) or `infantile onset` (HP:0003593), i.e., before the acquisition of speech." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000400 name: Macrotia alt_id: HP:0000382 alt_id: HP:0000386 alt_id: HP:0000401 alt_id: HP:0001755 def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [pmid:19152421] comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. subset: hposlim_core synonym: "Large dysplastic ears" EXACT [] synonym: "Large ears" EXACT [] synonym: "Large pinnae" EXACT [] synonym: "Large prominent ears" EXACT [] synonym: "Large protruding ears" EXACT [] synonym: "Large, floppy ears" RELATED [] synonym: "Large, prominent ears" EXACT [] synonym: "Large, prominent pinnae" EXACT [] synonym: "Large, protruding ears" EXACT [] xref: SNOMEDCT:275480001 "Large auricle" xref: UMLS:C1835581 "Large protruding ears" xref: UMLS:C1850189 "Large pinnae" xref: UMLS:C1855062 "Large dysplastic ears" xref: UMLS:C1860838 "Large prominent ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000402 name: Stenosis of the external auditory canal alt_id: HP:0000373 def: "An abnormal narrowing of the external auditory canal." [HPO:probinson] subset: hposlim_core synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow auditory canals" EXACT [] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Stenotic external auditory canal" EXACT [] xref: UMLS:C1866191 "Stenotic external auditory canal" is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000403 name: Recurrent otitis media alt_id: HP:0008622 alt_id: HP:0008623 alt_id: HP:0008624 def: "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [HPO:probinson] synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Otitis media, recurrent" EXACT [HPO:skoehler] synonym: "Recurrent episodes of otitis media" EXACT [] synonym: "Susceptibility to otitis media" EXACT [] xref: UMLS:C0747085 "Recurrent otitis media" is_a: HP:0000388 ! Otitis media is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0000405 name: Conductive hearing impairment alt_id: HP:0000367 alt_id: HP:0008581 def: "An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound." [HPO:probinson] comment: A conductive hearing impariment with greater than 90 dB loss. subset: hposlim_core synonym: "Conduction deafness" EXACT [] synonym: "Conductive deafness" EXACT [] synonym: "Conductive hearing loss" EXACT [] synonym: "Hearing loss, conductive" EXACT [] xref: MeSH:D006314 "Hearing Loss, Conductive" xref: SNOMEDCT:44057004 "Conductive hearing loss" xref: UMLS:C0018777 "Conductive hearing loss" is_a: HP:0000365 ! Hearing impairment is_a: HP:0011452 ! Functional abnormality of the middle ear property_value: HP:0040005 "An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000407 name: Sensorineural hearing impairment alt_id: HP:0000374 alt_id: HP:0001753 alt_id: HP:0001916 alt_id: HP:0008538 alt_id: HP:0008553 alt_id: HP:0008565 alt_id: HP:0008576 alt_id: HP:0008611 alt_id: HP:0008613 alt_id: HP:0008614 def: "A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson] comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). subset: hposlim_core synonym: "HEARING LOSS, SENSORINEURAL" EXACT [HPO:skoehler] synonym: "Sensorineural deafness" EXACT [] synonym: "sensorineural hearing loss" EXACT [] xref: SNOMEDCT:60700002 "Sensorineural hearing loss" xref: UMLS:C0018784 "Sensorineural Hearing Loss" is_a: HP:0000365 ! Hearing impairment is_a: HP:0011389 ! Functional abnormality of the inner ear property_value: HP:0040005 "A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000408 name: Progressive sensorineural hearing impairment alt_id: HP:0000397 alt_id: HP:0000406 alt_id: HP:0008592 alt_id: HP:0008601 alt_id: HP:0008617 def: "A progressive form of sensorineural hearing impairment." [HPO:probinson] synonym: "Bilateral progressive sensorineural hearing loss" EXACT [] synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT [] synonym: "Hearing loss, sensorineural, progressive" EXACT [] synonym: "Progressive bilateral sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] xref: UMLS:C1970279 "Hearing loss, sensorineural, bilateral, progressive" is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0001730 ! Progressive hearing impairment property_value: HP:0040005 "A `progressive` (PATO:0001818) form of `sensorineural hearing impairment` (HP:0000407)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000410 name: Mixed hearing impairment def: "A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment." [HPO:probinson] synonym: "HEARING LOSS, MIXED" EXACT [HPO:skoehler] synonym: "Mixed hearing loss" EXACT [] is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0000407 ! Sensorineural hearing impairment property_value: HP:0040005 "A type of hearing loss resulting from a combination of `conductive hearing impairment` (HP:0000405) and `sensorineural hearing impairment` (HP:0000407)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000411 name: Protruding ear alt_id: HP:0000412 def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [pmid:19152421] synonym: "Prominent ear" EXACT [] synonym: "Prominent ears" EXACT [] synonym: "Protruding ears" RELATED [HPO:skoehler] xref: UMLS:C1305420 "Prominent ear" xref: UMLS:C1855285 "Protruding ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000413 name: Atresia of the external auditory canal alt_id: HP:0008547 alt_id: HP:0008564 alt_id: HP:0008626 def: "Absence or failure to form of the external auditory canal." [HPO:probinson] subset: hposlim_core synonym: "Absent auditory canals" EXACT [] synonym: "Absent external auditory canals" EXACT [] synonym: "ATRESIA OF THE EXTERNAL AUDITORY CANALS" RELATED [HPO:skoehler] synonym: "Atretic auditory canal" EXACT [] synonym: "Atretic auditory canals" EXACT [] synonym: "Atretic external auditory canal" EXACT [] synonym: "Atretic external auditory canals" EXACT [] synonym: "Auditory canal atresia" EXACT [] synonym: "External acoustic meatus atresia" EXACT [] synonym: "External auditory canal atresia" EXACT [] synonym: "External auditory meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] xref: SNOMEDCT:75355004 "Congenital atresia of external auditory canal" xref: UMLS:C0266597 "Congenital atresia of external auditory canal" is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000414 name: Bulbous nose alt_id: HP:0000443 def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [pmid:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. synonym: "Bulbous nasal tip" RELATED [] xref: UMLS:C0240543 "Bulbous nose" xref: UMLS:C1855751 "Bulbous nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000415 name: Abnormality of the choanae def: "Abnormality of the choanae (the posterior nasal apertures)." [HPO:curators] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000417 name: Slender nose xref: UMLS:C1857645 "Slender nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000418 name: Narrow nasal ridge def: "Decreased width of the nasal ridge." [pmid:19152422] comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. synonym: "Pinched nose" EXACT [] xref: UMLS:C1837761 "Pinched nose" is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0000419 name: Abnormality of the nasal septum def: "An abnormality of the nasal septum." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:95433000 "Nasal septum abnormality" xref: UMLS:C0151790 "Nasal septum abnormality" is_a: HP:0000366 ! Abnormality of the nose property_value: HP:0040005 "An abnormality of the `nasal septum` (FMA:54375)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000420 name: Short nasal septum def: "Reduced superior to inferior length of the nasal septum." [HPO:probinson] subset: hposlim_core xref: UMLS:C1844857 "Short nasal septum" is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0000421 name: Epistaxis def: "Epistaxis, or nosebleed, refers to a hemorrhage localized in thenose." [HPO:probinson] synonym: "nose bleeding" EXACT [] synonym: "nosebleed" EXACT [] xref: MeSH:D004844 "Epistaxis" xref: UMLS:C2228238 "epistaxis" is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0001892 ! Abnormal bleeding property_value: HP:0040005 "Epistaxis, or nosebleed, refers to a `hemorrhage` (MPATH:119) localized in the`nose` (FMA:46472)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000422 name: Abnormality of the nasal bridge alt_id: HP:0000423 def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [HPO:probinson, pmid:19152422] comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge. subset: hposlim_core synonym: "Abnormality of the nasal root" EXACT [] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000426 name: Prominent nasal bridge alt_id: HP:0000432 alt_id: HP:0000442 alt_id: HP:0004498 alt_id: HP:0005287 def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [pmid:19152422] comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. synonym: "Elevated nasal bridge" EXACT [] synonym: "High nasal bridge" EXACT [] synonym: "Prominent nasal root" EXACT [] xref: UMLS:C1837533 "High nasal bridge" xref: UMLS:C1837827 "Prominent nasal bridge" xref: UMLS:C1843694 "Prominent nasal root" xref: UMLS:C1854113 "Elevated nasal bridge" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000429 name: Abnormality of the nasal alae def: "An abnormality of the Ala of nose." [HPO:probinson, pmid:19152422] comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. subset: hposlim_core synonym: "Abnormality of the nasal ala" EXACT [] is_a: HP:0010938 ! Abnormality of the external nose property_value: HP:0040005 "An abnormality of the `Ala of nose` (FMA:59519)." xsd:string {xref="HPO:probinson", xref="pmid:19152422"} [Term] id: HP:0000430 name: Underdeveloped nasal alae alt_id: HP:0004497 alt_id: HP:0004507 alt_id: HP:0005276 alt_id: HP:0005277 alt_id: HP:0005286 def: "Thinned, deficient, or excessively arched ala nasi." [pmid:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. subset: hposlim_core synonym: "Ala nasi, underdeveloped" EXACT [] synonym: "Alar cartilage hypoplasia" EXACT [] synonym: "Hypoplastic alae nasae" EXACT [] synonym: "Hypoplastic alae nasi" EXACT [] synonym: "Hypoplastic alar cartilage" EXACT [] synonym: "Hypoplastic alar nasae" EXACT [] synonym: "Hypoplastic nares" EXACT [] synonym: "Hypoplastic nasal alae" EXACT [] synonym: "Hypoplastic nasal wings" EXACT [] synonym: "Hypoplastic nostrils" EXACT [] synonym: "Nasal cartilage hypoplasia" EXACT [] synonym: "Thin hypoplastic alae nasi" EXACT [] xref: UMLS:C1865990 "Hypoplastic nasal alae" xref: UMLS:C1866966 "Hypoplastic nostrils" is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose property_value: HP:0040005 "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." xsd:string {xref="pmid:19152422"} [Term] id: HP:0000431 name: Wide nasal bridge alt_id: HP:0000424 alt_id: HP:0004500 alt_id: HP:0004504 alt_id: HP:0004650 alt_id: HP:0200139 def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, pmid:19152422] comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. synonym: "BROAD FLAT NASAL BRIDGE" RELATED [HPO:skoehler] synonym: "Broad nasal bridge" EXACT [] synonym: "Broad nasal root" EXACT [] synonym: "Broadened nasal bridge" EXACT [] synonym: "Nasal bridge broad" EXACT [] synonym: "Widened nasal bridge" EXACT [] xref: UMLS:C1864688 "Broad nasal bridge" xref: UMLS:C1866488 "Broad nasal root" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000433 name: Abnormality of the nasal mucosa is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000434 name: Nasal mucosa telangiectasia def: "Telangiectasia of the nasal mucosa." [HPO:probinson] xref: UMLS:C1857696 "Nasal mucosa telangiectases" is_a: HP:0000433 ! Abnormality of the nasal mucosa is_a: HP:0100579 ! Mucosal telangiectasiae property_value: HP:0040005 "`Telangiectasia` (MPATH:476) of the nasal mucosa." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000436 name: Abnormality of the nasal tip def: "An abnormality of the nasal tip." [HPO:probinson, pmid:19152422] comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. subset: hposlim_core is_a: HP:0010938 ! Abnormality of the external nose property_value: HP:0040005 "An abnormality of the `nasal tip` (FMA:59518)." xsd:string {xref="HPO:probinson", xref="pmid:19152422"} [Term] id: HP:0000437 name: Depressed nasal tip alt_id: HP:0005279 def: "Decreased distance from the nasal tip to the nasal base." [pmid:19152422] comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. subset: hposlim_core synonym: "Flat nasal tip" EXACT [] synonym: "Flattened nasal tip" EXACT [] synonym: "Nasal tip, depressed" EXACT [] synonym: "Nasal tip, recessed" EXACT [] synonym: "Nasal tip, retruded" EXACT [] xref: UMLS:C1858568 "Flat nasal tip" xref: UMLS:C1866967 "Flattened nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000444 name: Convex nasal ridge def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [pmid:19152422] subset: hposlim_core synonym: "Beaked nose" EXACT [] synonym: "Beaklike protrusion" EXACT [] synonym: "Hooked nose" EXACT [] xref: UMLS:C0240538 "Beaked nose" is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0000445 name: Wide nose alt_id: HP:0000438 def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [pmid:19152422] subset: hposlim_core synonym: "Broad nose" EXACT [] xref: SNOMEDCT:249321001 "Wide nose" xref: UMLS:C0426421 "Wide nose" xref: UMLS:C1853571 "Broad nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000446 name: Narrow nasal bridge alt_id: HP:0100782 def: "Decreased width of the bony bridge of the nose." [pmid:19152422] comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. subset: hposlim_core synonym: "Narrow nasal root" EXACT [] synonym: "Nasal Bridge, Narrow" EXACT [] synonym: "Nasal bridge, thin" EXACT [] synonym: "Pinched nasal bridge" RELATED [] is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000447 name: Pear-shaped nose xref: UMLS:C1853482 "Pear-shaped nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000448 name: Prominent nose alt_id: HP:0000461 alt_id: HP:0005271 alt_id: HP:0200140 def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [pmid:19152422] subset: hposlim_core synonym: "Disproportionately large nose" EXACT [] synonym: "Large nose" EXACT [] xref: UMLS:C0426415 "Large nose" xref: UMLS:C0847549 "Prominent nose" xref: UMLS:C1868548 "Disproportionately large nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000451 name: Triangular nasal tip xref: UMLS:C1839765 "Triangular nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000452 name: Choanal stenosis def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:probinson] subset: hposlim_core synonym: "Coanal stenosis" EXACT [] xref: UMLS:C0584837 "Choanal stenosis" is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000453 name: Choanal atresia alt_id: HP:0000416 alt_id: HP:0004503 def: "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:probinson] subset: hposlim_core xref: MeSH:D002754 "Choanal Atresia" xref: UMLS:C0008297 "Choanal Atresia" is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000454 name: Flared nostrils synonym: "Flared nasal alae" EXACT [] is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0000455 name: Broad nasal tip alt_id: HP:0004501 alt_id: HP:0005269 def: "Increase in width of the nasal tip." [HPO:probinson, pmid:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term. synonym: "BROAD UPTURNED NOSE" RELATED [] synonym: "Broad, upturned nose" EXACT [] synonym: "Nasal tip, broad" EXACT [] synonym: "Nasal tip, wide" EXACT [] xref: UMLS:C0426429 "Broad nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip is_a: HP:0000463 ! Anteverted nares property_value: HP:0040005 "Increase in width of the `nasal tip` (FMA:59518)." xsd:string {xref="HPO:probinson", xref="pmid:19152422"} [Term] id: HP:0000456 name: Bifid nasal tip alt_id: HP:0005282 def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [HPO:sdoelken, pmid:19152422] comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. synonym: "Notched nasal tip" RELATED [] xref: UMLS:C0426428 "Bifid nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000457 name: Depressed nasal ridge def: "Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge." [HPO:probinson, pmid:19152422] comment: The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately. subset: hposlim_core synonym: "Flat nose" EXACT [] xref: UMLS:C1842876 "Flat nose" is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0000458 name: Anosmia def: "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:probinson] subset: hposlim_core xref: MeSH:D000857 "Anosmia" xref: SNOMEDCT:44169009 "Loss of sense of smell" xref: UMLS:C0003126 "Anosmia" is_a: HP:0004408 ! Abnormality of the sense of smell [Term] id: HP:0000460 name: Narrow nose def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. xref: UMLS:C0426422 "Narrow nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000463 name: Anteverted nares alt_id: HP:0000427 alt_id: HP:0000435 alt_id: HP:0000441 def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [pmid:19152422] comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT [] synonym: "Nostrils anteverted" EXACT [] synonym: "Upturned nasal tip" EXACT [] synonym: "UPTURNED NASAL TIPS" RELATED [HPO:skoehler] synonym: "Upturned nose" EXACT [] xref: UMLS:C0240582 "Upturned nose" xref: UMLS:C0240583 "Short upturned nose" xref: UMLS:C1853244 "Anteverted nares" is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0005105 ! Abnormal nasal morphology is_a: HP:0005288 ! Abnormality of the nares [Term] id: HP:0000464 name: Abnormality of the neck def: "An abnormality of the neck." [HPO:probinson] subset: hposlim_core is_a: HP:0000152 ! Abnormality of head or neck property_value: HP:0040005 "An abnormality of the `neck` (FMA:7155)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000465 name: Webbed neck def: "Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline." [HPO:probinson, pmid:24523736] subset: hposlim_core synonym: "Neck webbing" EXACT [] synonym: "Pterygium colli" EXACT [] xref: SNOMEDCT:11731003 "Neck webbing" xref: UMLS:C0221217 "Pterygium colli" is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000466 name: Limited neck range of motion is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0000467 name: Neck muscle weakness def: "Decreased strength of the neck musculature." [HPO:probinson] xref: UMLS:C0240479 "Neck muscle weakness" is_a: HP:0001324 ! Muscle weakness is_a: HP:0011006 ! Abnormality of the musculature of the neck property_value: HP:0040005 "`Decreased strength` (PATO:0001779) of the `neck musculature` (FMA:71290)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000468 name: Increased adipose tissue around the neck def: "An increased amount of subcutaneous fat tissue around the neck." [HPO:probinson] is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0000470 name: Short neck alt_id: HP:0005992 alt_id: HP:0200137 def: "Diminished length of the neck." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:95427009 "Short neck" xref: UMLS:C0521525 "Short neck" is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0003319 ! Abnormality of the cervical spine property_value: HP:0040005 "Diminished length of the `neck` (FMA:7155)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia def: "Dysplasia affecting the vasculature of the gastrointestinal tract." [HPO:probinson] xref: UMLS:C0854242 "Gastrointestinal angiodysplasia" is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature property_value: HP:0040005 "`Dysplasia` (MPATH:589) affecting the vasculature of the `gastrointestinal tract` (FMA:71132)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000472 name: Long neck def: "Increased inferior-superior length of the neck." [HPO:probinson] subset: hposlim_core xref: UMLS:C1839816 "Long neck" is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000473 name: Torticollis def: "Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head." [HPO:probinson] comment: The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia. synonym: "Cervical dystonia" EXACT [] synonym: "Spasmodic torticollis" EXACT [] xref: MeSH:D014103 "Torticollis" xref: UMLS:C0040485 "Torticollis" is_a: HP:0011006 ! Abnormality of the musculature of the neck is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0012179 ! Craniofacial dystonia property_value: HP:0040005 "Involuntary contractions of the `neck musculature` (FMA:71290) resulting in an abnormal posture of or abnormal movements of the head." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000474 name: Thickened nuchal skin fold alt_id: HP:0000477 def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637)." [HPO:probinson, pmid:16100637] comment: A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). subset: hposlim_core synonym: "Excess nuchal skin" EXACT [] xref: UMLS:C1858543 "Redundant nuchal skin" is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0000475 name: Broad neck def: "Increased side-to-side width of the neck." [HPO:probinson] subset: hposlim_core xref: UMLS:C1853638 "Broad neck" is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000476 name: Cystic hygroma def: "A cystic lymphatic lesion of the neck." [HPO:probinson] comment: Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck. synonym: "Cystic hygroma of the neck" EXACT [] xref: MeSH:D018191 "Lymphangioma, cystic" xref: UMLS:C0206620 "Hygroma, Cystic" is_a: HP:0000464 ! Abnormality of the neck property_value: HP:0040005 "A cystic lymphatic lesion of the `neck` (FMA:7155)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000478 name: Abnormality of the eye def: "Any abnormality of the eye, including location, spacing, and intraocular abnormalities." [HPO:probinson] subset: hposlim_core synonym: "Eye disease" RELATED [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "Any abnormality of the `eye` (FMA:54448), including location, spacing, and intraocular abnormalities." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000479 name: Abnormality of the retina def: "An abnormality of the retina." [HPO:probinson] subset: hposlim_core synonym: "Abnormal retina" EXACT [HPO:skoehler] synonym: "Anomaly of the retina" EXACT [] synonym: "Retinal disease" RELATED [] is_a: HP:0001098 ! Abnormality of the fundus property_value: HP:0040005 "An abnormality of the `retina` (FMA:58301)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000480 name: Retinal coloboma def: "A notch or cleft of the retina." [HPO:probinson] subset: hposlim_core xref: UMLS:C0240896 "Retinal coloboma" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 name: Abnormality of the cornea alt_id: HP:0007771 alt_id: HP:0007972 def: "Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson] subset: hposlim_core synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] synonym: "Cornela disease" RELATED [] xref: UMLS:C1855670 "Corneal abnormalities" is_a: HP:0004328 ! Abnormality of the anterior segment of the eye property_value: HP:0040005 "Any abnormality of the `cornea` (FMA:58238), which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000482 name: Microcornea alt_id: HP:0100688 def: "A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] comment: Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood. subset: hposlim_core synonym: "Decreased corneal diameter" EXACT [] xref: UMLS:C0266544 "Microcornea" is_a: HP:0001120 ! Abnormality of corneal size property_value: HP:0040005 "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000483 name: Astigmatism def: "Astigmatism describes a refractive error characterized by a difference in the horizontal and vertical curvature of the cornea." [DDD:ncarter, HPO:probinson] comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. subset: hposlim_core xref: MeSH:D001251 "Astigmatism" xref: UMLS:C0004106 "Astigmatism" is_a: HP:0000539 ! Abnormality of refraction is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0000484 name: Hyperopic astigmatism def: "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [HPO:probinson] xref: UMLS:C1847524 "Hyperopic astigmatism" is_a: HP:0000483 ! Astigmatism [Term] id: HP:0000485 name: Megalocornea alt_id: HP:0007660 def: "An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." [HPO:curators] subset: hposlim_core synonym: "Anterior megalophthalmos" EXACT [] synonym: "Increased corneal diameter" EXACT [] synonym: "Macrocornea" EXACT [] xref: UMLS:C0344530 "Keratoglobus" xref: UMLS:C1167712 "Increased corneal diameter" is_a: HP:0001120 ! Abnormality of corneal size property_value: HP:0040005 "An enlargement of the `cornea` (FMA:58238) with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age." xsd:string {xref="HPO:curators"} [Term] id: HP:0000486 name: Strabismus def: "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:probinson] subset: hposlim_core synonym: "Squint" EXACT [] xref: MeSH:D013285 "Strabismus" xref: UMLS:C2020541 "strabismus" is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000487 name: Congenital strabismus xref: UMLS:C0521579 "Congenital strabismus" is_a: HP:0000486 ! Strabismus [Term] id: HP:0000488 name: Retinopathy def: "Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson] subset: hposlim_core xref: UMLS:C1962966 "Retinopathy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000489 name: obsolete Abnormality of globe location or size is_obsolete: true consider: HP:0100886 consider: HP:0100887 [Term] id: HP:0000490 name: Deeply set eye alt_id: HP:0000663 def: "An eye that is more deeply recessed into the plane of the face than is typical." [pmid:19125427] comment: This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer. subset: hposlim_core synonym: "Deep set eye" EXACT [] synonym: "Deep-set eyes" EXACT [] synonym: "Enophthalmos" EXACT [] synonym: "Sunken eyes" EXACT [] xref: MeSH:D015841 "Enophthalmos" xref: UMLS:C0014306 "Enophthalmos" xref: UMLS:C1860310 "Deep set eyes" is_a: HP:0100886 ! Abnormality of globe location property_value: HP:0040005 "An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical." xsd:string {xref="pmid:19125427"} [Term] id: HP:0000491 name: Keratitis def: "Inflammation of the cornea." [HPO:curators] subset: hposlim_core xref: MeSH:D007634 "Keratitis" xref: UMLS:C0022568 "Keratitis" is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0011495 ! Abnormality of corneal epithelium is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000492 name: Abnormality of the eyelid alt_id: HP:0000285 def: "An abnormality of the eyelids." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the eyelids" EXACT [] is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000606 ! Abnormality of the periorbital region property_value: HP:0040005 "An abnormality of the `eyelids` (FMA:75178)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000493 name: Abnormality of the fovea def: "An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [HPO:probinson] is_a: HP:0001103 ! Abnormality of the macula property_value: HP:0040005 "An abnormality of the `fovea centralis` (FMA:58658), the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T01:29:00Z [Term] id: HP:0000494 name: Downslanted palpebral fissures alt_id: HP:0007714 alt_id: HP:0007908 def: "The palpebral fissure inclination is more than two standard deviations below the mean." [pmid:19125427] subset: hposlim_core synonym: "Antimongoloid eye slant" EXACT [] synonym: "Antimongoloid slant of palpebral fissures" EXACT [] synonym: "Antimongoloid slanted palpebral fissures" EXACT [] synonym: "Down slanting palpebral fissures" EXACT [] synonym: "Down-slanted palpebral fissures" EXACT [] synonym: "Down-slanting palpebral fissure" EXACT [] synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [HPO:skoehler] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "DOWNWARD SLANTING PALPEBRAL FISSURES" EXACT [HPO:skoehler] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] xref: UMLS:C0423110 "Downward slanting palpebral fissures" is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000495 name: Recurrent corneal erosions alt_id: HP:0007674 alt_id: HP:0007749 def: "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators] synonym: "Corneal erosions, recurrent" EXACT [] synonym: "Corneal ulcerations" EXACT [] synonym: "Epithelial corneal erosions" RELATED [] synonym: "Recurrent corneal ulceration" EXACT [] synonym: "RECURRENT CORNEAL ULCERATIONS" RELATED [HPO:skoehler] xref: UMLS:C0155119 "Recurrent corneal erosions" is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000496 name: Abnormality of eye movement alt_id: HP:0006860 def: "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] subset: hposlim_core synonym: "Abnormal extraocular movement" EXACT [] synonym: "Abnormal extraocular movements" EXACT [] synonym: "Abnormal eye motility" EXACT [] synonym: "Abnormal eye movement" EXACT [] synonym: "Abnormal eye movements" EXACT [] synonym: "Abnormal ocular movements" EXACT [] synonym: "Eye movement abnormalities" EXACT [] synonym: "Ocular movement abnormalities" EXACT [] synonym: "Oculomotor abnormalities" EXACT [] xref: UMLS:C1854374 "Eye movement abnormalities" is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000497 name: Globe retraction and deviation on abduction is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000498 name: Blepharitis def: "Inflammation of the eyelids." [HPO:probinson] subset: hposlim_core xref: MeSH:D001762 "Blepharitis" xref: SNOMEDCT:41446000 "Blepharitis" xref: UMLS:C2230188 "blepharitis" is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000499 name: Abnormality of the eyelashes alt_id: HP:0004530 def: "An abnormality of the eyelashes." [HPO:probinson] subset: hposlim_core synonym: "Abnormal eyelashes" EXACT [HPO:skoehler] synonym: "Eyelash abnormality" EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0001595 ! Abnormality of the hair property_value: HP:0040005 "An abnormality of the `eyelashes` (FMA:53669)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000501 name: Glaucoma def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, pmid:11815354] comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. subset: hposlim_core xref: MeSH:D005901 "Glaucoma" xref: UMLS:C1962986 "Glaucoma" is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000502 name: Abnormality of the conjunctiva def: "An abnormality of the conjunctiva." [HPO:curators] comment: The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). subset: hposlim_core is_a: HP:0012372 ! Abnormal eye morphology property_value: HP:0040005 "An abnormality of the `conjunctiva` (FMA:59011)." xsd:string {xref="HPO:curators"} [Term] id: HP:0000503 name: Tortuosity of conjunctival vessels def: "The presence of an increased number of twists and turns of the conjunctival blood vessels." [HPO:probinson] is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0000504 name: Abnormality of vision def: "Abnormality of eyesight (visual perception)." [HPO:probinson] subset: hposlim_core is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000505 name: Visual impairment alt_id: HP:0000516 alt_id: HP:0000566 alt_id: HP:0007860 alt_id: HP:0007983 def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD:gblack] subset: hposlim_core synonym: "Decreased visual acuity" EXACT [] synonym: "Impaired vision" EXACT [] synonym: "Poor vision" EXACT [] synonym: "Poor visual acuity" EXACT [] synonym: "Reduced visual acuity" EXACT [] xref: UMLS:C0580104 "Poor visual acuity" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000506 name: Telecanthus def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [HPO:probinson] comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced. subset: hposlim_core synonym: "Dystopia canthorum" EXACT [] xref: UMLS:C0423113 "Telecanthus" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000508 name: Ptosis def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid:19125427] subset: hposlim_core synonym: "Blepharoptosis" EXACT [] synonym: "EYELID PTOSIS" EXACT [HPO:skoehler] xref: MeSH:D001763 "Blepharoptosis" xref: UMLS:C0005745 "Ptosis" is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000509 name: Conjunctivitis def: "Inflammation of the conjunctiva." [HPO:probinson] subset: hposlim_core synonym: "CONJUNCTIVITIS, RECURRENT" RELATED [HPO:skoehler] xref: MeSH:D003231 "Conjunctivitis" xref: UMLS:C0009763 "Conjunctivitis" is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0100533 ! Inflammatory abnormality of the eye property_value: HP:0040005 "Inflammation of the `conjunctiva` (FMA:59011)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000510 name: Retinitis pigmentosa alt_id: HP:0001127 alt_id: HP:0007635 alt_id: HP:0007645 alt_id: HP:0007742 alt_id: HP:0007816 alt_id: HP:0007826 alt_id: HP:0007927 def: "Hereditary degeneration and atrophy of the retina." [HPO:probinson] comment: Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. subset: hposlim_core xref: MeSH:D012174 "Retinitis Pigmentosa" xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0007703 ! Abnormal retinal pigmentation [Term] id: HP:0000511 name: Vertical supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson, pmid:20671861] synonym: "Upgaze palsy" EXACT [] synonym: "Vertical gaze palsy" EXACT [] xref: UMLS:C1843369 "Vertical supranuclear gaze palsy" is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0000512 name: Abnormal electroretinogram alt_id: HP:0003285 def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:probinson] comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. subset: hposlim_core synonym: "Abnormal electroretinogram (ERG)" EXACT [] synonym: "Abnormal electroretinography" EXACT [] synonym: "Abnormal ERG" EXACT [] synonym: "ERG abnormal" EXACT [] synonym: "FLATTENED OR ABSENT ELECTRORETINOGRAM (ERG)" RELATED [HPO:skoehler] xref: UMLS:C0476397 "Abnormal electroretinogram" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000514 name: Slow saccadic eye movements def: "An abnormally slow velocity of the saccadic eye movements." [HPO:probinson] comment: Saccades are rapid eye movements that align the fovea with the target. subset: hposlim_core synonym: "Slow saccades" EXACT [] xref: UMLS:C1321329 "Slow saccades" is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000517 name: Abnormality of the lens def: "An abnormality of the lens." [HPO:probinson] synonym: "Lens disease" RELATED [] is_a: HP:0004328 ! Abnormality of the anterior segment of the eye property_value: HP:0040005 "An abnormality of the `lens` (FMA:58241)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000518 name: Cataract def: "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:probinson] comment: Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). subset: hposlim_core synonym: "Cataracts" EXACT [] synonym: "Lens opacities" EXACT [] synonym: "Lens opacity" EXACT [] xref: MeSH:D002386 "Cataract" xref: UMLS:C0086543 "Cataract" is_a: HP:0000517 ! Abnormality of the lens property_value: HP:0040005 "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000519 name: Congenital cataract alt_id: HP:0001108 alt_id: HP:0007679 alt_id: HP:0007726 alt_id: HP:0007788 def: "A congenital cataract." [HPO:probinson] comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. subset: hposlim_core synonym: "Bilateral cataracts" EXACT [] synonym: "Bilateral congenital cataracts" EXACT [] synonym: "Cataract, congenital" EXACT [] synonym: "Cataracts, lenticular, bilateral" EXACT [] synonym: "Congenital cataracts" EXACT [] synonym: "Congenital cataracts, bilateral" EXACT [] xref: SNOMEDCT:79410001 "Congenital cataract" xref: UMLS:C0009691 "Congenital cataract" is_a: HP:0000518 ! Cataract property_value: HP:0040005 "A congenital `cataract` (HP:0000518)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000520 name: Proptosis alt_id: HP:0000536 alt_id: HP:0000644 alt_id: HP:0000645 alt_id: HP:0007711 alt_id: HP:0007870 def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, pmid:19125427] comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. subset: hposlim_core synonym: "Anterior bulging of the globe" EXACT [] synonym: "Exophthalmos" EXACT [] synonym: "Ocular proptosis" EXACT [] synonym: "Prominent eyes" EXACT [] synonym: "Prominent globes" EXACT [] synonym: "Protruding eyes" EXACT [] xref: MeSH:D005094 "Exophthalmos" xref: UMLS:C1862425 "Prominent globes" is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000522 name: Alacrima def: "Absence of tear secretion." [HPO:probinson] comment: Alacrima is generally a congenital deficiency. subset: hposlim_core xref: UMLS:C0344505 "Alacrima" is_a: HP:0000633 ! Decreased lacrimation [Term] id: HP:0000523 name: Subcapsular cataract alt_id: HP:0001490 alt_id: HP:0007978 def: "A cataract that affects the region of the lens directly beneath the capsule of the lens." [HPO:probinson] synonym: "Subcapsular cataracts" EXACT [] synonym: "Subcapsular lenticular cataracts" EXACT [] synonym: "Subcapsular opacities" EXACT [] xref: UMLS:C1866179 "Subcapsular opacities" is_a: HP:0010696 ! Polar cataract property_value: HP:0040005 "A cataract that affects the region of the lens directly beneath the `capsule of the lens` (FMA:58881)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000524 name: Conjunctival telangiectasia def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:probinson] subset: hposlim_core synonym: "Conjunctival telangiectases" EXACT [] synonym: "Telangiectasia, conjunctival" EXACT [] xref: UMLS:C0239105 "Telangiectasia, conjunctival" is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000525 name: Abnormality of the iris def: "An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." [HPO:probinson] subset: hposlim_core is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0004328 ! Abnormality of the anterior segment of the eye property_value: HP:0040005 "An abnormality of the `iris` (FMA:58235), which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000526 name: Aniridia def: "Congenital absence of the iris." [HPO:probinson] subset: hposlim_core xref: MeSH:D015783 "Aniridia" xref: UMLS:C0003076 "Aniridia" is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris property_value: HP:0040005 "Congenital absence of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000527 name: Long eyelashes alt_id: HP:0000500 def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] comment: Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. subset: hposlim_core synonym: "Ciliary trichomegaly" EXACT [] synonym: "Unusually long eyelashes" EXACT [] xref: UMLS:C0854699 "Trichomegaly" xref: UMLS:C1853738 "Long eyelashes" is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000528 name: Anophthalmia alt_id: HP:0001485 alt_id: HP:0007664 def: "Absence of the globe or eyeball." [DDD:ncarter] subset: hposlim_core synonym: "Anophthalmia, clinical" EXACT [] synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT [] xref: UMLS:C0003119 "Anophthalmia" is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000529 name: Progressive visual loss alt_id: HP:0000560 alt_id: HP:0007735 alt_id: HP:0007753 alt_id: HP:0007967 def: "A reduction of previously attained ability to see." [HPO:probinson] subset: hposlim_core synonym: "DECREASED VISUAL ACUITY, PROGRESSIVE" RELATED [HPO:skoehler] synonym: "Loss of visual acuity" EXACT [] synonym: "Progressive loss of vision" EXACT [] synonym: "Progressive vision loss" EXACT [] synonym: "Progressive visual acuity loss" EXACT [] synonym: "Progressive visual impairment" EXACT [] synonym: "Slowly progressive visual loss" EXACT [] synonym: "VISION LOSS, PROGRESSIVE" EXACT [HPO:skoehler] synonym: "Visual loss, progressive" EXACT [] xref: UMLS:C1866286 "Visual loss, progressive" is_a: HP:0000572 ! Visual loss [Term] id: HP:0000531 name: Corneal crystals synonym: "Corneal deposits" EXACT [] xref: UMLS:C1857391 "Corneal crystals" is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0000532 name: Chorioretinal abnormality def: "An abnormality of the choroid and retina." [HPO:probinson] comment: The choroid is the vascular layer of the eye, located between the retina and the sclera. is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000533 name: Chorioretinal atrophy alt_id: HP:0007918 alt_id: HP:0007931 def: "Atrophy of the choroid and retinal layers of the fundus." [HPO:probinson] synonym: "Chorioretinal degeneration" EXACT [] synonym: "Chorioretinal thinning" EXACT [] xref: UMLS:C0521683 "Chorioretinal atrophy" xref: UMLS:C1850241 "Progressive chorioretinal degeneration" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0000534 name: Abnormality of the eyebrow def: "An abnormality of the eyebrow." [HPO:probinson] subset: hposlim_core is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001595 ! Abnormality of the hair property_value: HP:0040005 "An abnormality of the `eyebrow` (FMA:54237)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000535 name: Sparse eyebrow alt_id: HP:0002222 alt_id: HP:0002554 alt_id: HP:0004520 alt_id: HP:0004551 def: "Decreased density/number and/or decreased diameter of eyebrow hairs." [pmid:19125427] comment: Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate. subset: hposlim_core synonym: "Hypotrichosis of eyebrow" EXACT [] synonym: "SPARSE EYEBROWS" RELATED [HPO:skoehler] synonym: "Thin eyebrows" EXACT [] synonym: "Thin, sparse eyebrows" EXACT [] xref: UMLS:C0578682 "Sparse eyebrows" is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0000537 name: Epicanthus inversus def: "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [pmid:19125427] subset: hposlim_core xref: UMLS:C1303003 "Epicanthus inversus" is_a: HP:0000286 ! Epicanthus [Term] id: HP:0000538 name: Pseudopapilledema def: "Apparent optic disc swelling in the absence of increased intracranial pressure." [HPO:probinson] comment: Papilledema is disc edema secondary to increased intracranial pressure. subset: hposlim_core xref: UMLS:C0155300 "Pseudopapilledema" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000539 name: Abnormality of refraction def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [HPO:probinson] is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000540 name: Hypermetropia def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] subset: hposlim_core synonym: "Farsightedness" EXACT [] synonym: "Hyperopia" EXACT [] synonym: "Long-sightedness." EXACT [] xref: MeSH:D006956 "Hyperopia" xref: UMLS:C0020490 "Hypermetropia" is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000541 name: Retinal detachment alt_id: HP:0007864 alt_id: HP:0008021 def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson] subset: hposlim_core synonym: "Detached retina" EXACT [] xref: MeSH:D012163 "Retinal Detachment" xref: UMLS:C1963229 "Retinal detachment" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000542 name: Impaired ocular adduction def: "Reduced ability to move the eye in the direction of the nose." [HPO:probinson] comment: Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement). xref: UMLS:C1846463 "Impaired ocular adduction" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000543 name: Optic disc pallor alt_id: HP:0001148 alt_id: HP:0001484 def: "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [HPO:probinson] comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white. subset: hposlim_core synonym: "DISC PALLOR" RELATED [HPO:skoehler] synonym: "OPTIC DISK PALLOR" RELATED [HPO:skoehler] synonym: "Pale optic disc" EXACT [] synonym: "PALE OPTIC DISCS" RELATED [HPO:skoehler] synonym: "Pale optic disk" EXACT [] xref: UMLS:C0554970 "Pale optic discs" is_a: HP:0012795 ! Abnormality of the optic disc [Term] id: HP:0000544 name: External ophthalmoplegia alt_id: HP:0007762 def: "Paralysis of the external ocular muscles." [HPO:probinson] synonym: "Ophthalmoplegia externa" EXACT [] xref: UMLS:C0162292 "External Ophthalmoplegia" is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000545 name: Myopia alt_id: HP:0001110 alt_id: HP:0007847 def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] subset: hposlim_core xref: MeSH:D009216 "Myopia" xref: UMLS:C0027092 "Myopia" is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000546 name: Retinal degeneration alt_id: HP:0007632 def: "A deterioration of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality." [HPO:probinson] subset: hposlim_core xref: MeSH:D012162 "Retinal Degeneration" xref: UMLS:C0035304 "Retinal Degeneration" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000547 name: Tapetoretinal degeneration xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000548 name: Cone-rod dystrophy alt_id: HP:0008157 synonym: "Cone-rod retinal dystrophy" EXACT [] is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000549 name: Abnormal conjugate eye movement def: "Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object." [HPO:probinson] synonym: "Disconjugate eye movements" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000550 name: Abolished electroretinogram (ERG) alt_id: HP:0008042 def: "Lack of any response to stimulation upon electroretinography." [HPO:probinson] synonym: "Abolished electroretinogram" EXACT [] synonym: "Absent electroretinogram" EXACT [] synonym: "Extinction of electroretinogram" EXACT [] synonym: "Extinguished electroretinogram" EXACT [] synonym: "No light-evoked response on electroretinogram" EXACT [] xref: UMLS:C1855685 "Extinguished electroretinogram" is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000551 name: Abnormality of color vision def: "An anomaly in the ability to discriminate between or recognize colors." [HPO:probinson] synonym: "Abnormal color vision" EXACT [] synonym: "Color vision defect" RELATED [] synonym: "COLOR VISION DEFECT, SEVERE" RELATED [HPO:skoehler] synonym: "COLOR VISION DEFECTS" RELATED [HPO:skoehler] xref: UMLS:C0234629 "Abnormal color vision" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000552 name: Tritanomaly def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [HPO:probinson] synonym: "Blue-yellow dyschromatopsia" EXACT [] synonym: "BLUE/YELLOW COLOR VISION DEFECT" RELATED [HPO:skoehler] synonym: "Dyschromatopsia, blue-yellow" EXACT [] xref: UMLS:C1853142 "Blue-yellow dyschromatopsia" is_a: HP:0011519 ! Anomalous trichromacy [Term] id: HP:0000553 name: Abnormality of the uvea def: "An abnormality of the uvea, the vascular layer of the eyeball." [HPO:probinson] is_a: HP:0012374 ! Abnormality of the globe property_value: HP:0040005 "An abnormality of the `uvea` (FMA:58103), the vascular layer of the eyeball." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000554 name: Uveitis def: "Inflammation of one or all portions of the uveal tract." [HPO:curators] comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. subset: hposlim_core xref: MeSH:D014605 "Uveitis" xref: UMLS:C1963266 "Uveitis" is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000555 name: Leukocoria def: "An abnormal white reflection from the pupil rather than the usual black reflection." [HPO:probinson] comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). xref: UMLS:C0152458 "Leucocoria" is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0000556 name: Retinal dystrophy alt_id: HP:0007974 xref: MeSH:D058499 "Retinal Dystrophies" xref: UMLS:C0854723 "Retinal dystrophy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000557 name: Buphthalmos def: "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:probinson] subset: hposlim_core is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0000558 name: Rieger anomaly def: "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [HPO:probinson] comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. xref: UMLS:C0265341 "Rieger anomaly" is_a: HP:0007676 ! Hypoplasia of the iris is_a: HP:0007700 ! Anterior segment dysgenesis [Term] id: HP:0000559 name: Corneal scarring xref: UMLS:C0349702 "CORNEAL SCARRING" is_a: HP:0007957 ! Corneal opacity is_a: HP:0100699 ! Scarring [Term] id: HP:0000561 name: Absent eyelashes alt_id: HP:0002288 alt_id: HP:0004516 alt_id: HP:0004539 alt_id: HP:0007926 def: "Lack of eyelashes." [HPO:curators, pmid:19125427] comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. subset: hposlim_core synonym: "Atrichia of eyelashes" EXACT [] xref: UMLS:C1843005 "Absent eyelashes" is_a: HP:0002550 ! Absent facial hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000563 name: Keratoconus def: "A cone-shaped deformity of the cornea." [HPO:probinson] subset: hposlim_core xref: MeSH:D007640 "Keratoconus" xref: UMLS:C0022578 "Keratoconus" is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0000564 name: Lacrimal duct atresia alt_id: HP:0007729 def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [HPO:probinson] synonym: "Imperforate nasolacrimal ducts" EXACT [] synonym: "Nasolacrimal duct atresia" EXACT [] xref: UMLS:C1863756 "Lacrimal duct atresia" is_a: HP:0011481 ! Abnormality of the lacrimal duct [Term] id: HP:0000565 name: Esotropia def: "A form of strabismus with one or both eyes turned inward ('crossed')." [HPO:probinson] subset: hposlim_core synonym: "Convergent strabismus" EXACT [] xref: MeSH:D004948 "Esotropia" xref: UMLS:C0014877 "Strabismus, Convergent" is_a: HP:0000486 ! Strabismus [Term] id: HP:0000567 name: Chorioretinal coloboma alt_id: HP:0007718 def: "Absence of a region of the retina, retinal pigment epithelium, and choroid." [HPO:probinson] synonym: "Choroidoretinal coloboma" EXACT [] xref: UMLS:C1844534 "Choroidoretinal coloboma" is_a: HP:0000480 ! Retinal coloboma is_a: HP:0000532 ! Chorioretinal abnormality is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0000568 name: Microphthalmos alt_id: HP:0007996 def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] subset: hposlim_core synonym: "Microphthalmia" EXACT [] synonym: "Nanophthalmos" RELATED [] xref: MeSH:D008850 "Microphthalmos" xref: UMLS:C1055232 "Microphthalmus" xref: UMLS:C1837464 "Small eyes" is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000570 name: Abnormality of saccadic eye movements alt_id: HP:0000604 def: "An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements." [HPO:probinson] comment: Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades. synonym: "Impaired saccades" RELATED [] xref: UMLS:C1842584 "Impaired saccades" is_a: HP:0000496 ! Abnormality of eye movement property_value: HP:0040005 "An `abnormality of eye movement` (HP:0000496) characterized by impairment of fast (saccadic) eye movements." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000571 name: Hypometric saccades def: "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, pmid:572501] xref: UMLS:C0423082 "Hypometric saccades" is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000572 name: Visual loss def: "Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that)." [HPO:sdoelken] synonym: "Loss of vision" EXACT [] synonym: "VISION LOSS" EXACT [HPO:skoehler] is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000573 name: Retinal hemorrhage def: "Hemorrhage occurring within the retina." [HPO:gcarletti] subset: hposlim_core synonym: "Retinal bleeding" EXACT [] synonym: "Retinal hemorrhages" EXACT [] xref: MeSH:D012166 "Retinal hemorrhage" xref: UMLS:C0035317 "Retinal hemorrhage" is_a: HP:0008046 ! Abnormality of the retinal vasculature is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0011885 ! Hemorrhage of the eye property_value: HP:0040005 "`Hemorrhage` (MPATH:119) occurring within the `retina` (FMA:58301)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0000574 name: Thick eyebrow alt_id: HP:0004546 def: "Increased density/number and/or increased diameter of eyebrow hairs." [pmid:19125427] comment: Thickness can be regional (medial, middle/central, lateral) or total. subset: hposlim_core synonym: "Bushy eyebrows" EXACT [] synonym: "Dense eyebrow" EXACT [] synonym: "Heavy eyebrows" EXACT [] synonym: "Hypertrichosis of the eyebrow" EXACT [] synonym: "HYPERTRICHOSIS OF THE EYEBROWS" RELATED [HPO:skoehler] synonym: "Prominent eyebrows" EXACT [] synonym: "Thick eyebrows" EXACT [HPO:skoehler] xref: UMLS:C1839313 "Prominent eyebrows" is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0000575 name: Scotoma def: "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators] subset: hposlim_core xref: MeSH:D012607 "Scotoma" is_a: HP:0001123 ! Visual field defect [Term] id: HP:0000576 name: Centrocecal scotoma def: "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [HPO:probinson] xref: UMLS:C0271196 "Centrocaecal scotoma" is_a: HP:0000575 ! Scotoma [Term] id: HP:0000577 name: Exotropia def: "A form of strabismus with one or both eyes deviated outward." [HPO:probinson] subset: hposlim_core xref: MeSH:D005099 "Exotropia" xref: UMLS:C0015310 "Exotropia" is_a: HP:0000486 ! Strabismus [Term] id: HP:0000579 name: Nasolacrimal duct obstruction def: "Blockage of the lacrimal duct." [HPO:probinson] subset: hposlim_core synonym: "Lacrimal duct obstruction" EXACT [] xref: MeSH:D007767 "Lacrimal Duct Obstruction" xref: UMLS:C1281931 "Nasolacrimal duct obstruction" is_a: HP:0011481 ! Abnormality of the lacrimal duct property_value: HP:0040005 "Blockage of the ` lacrimal duct` (FMA:61063)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000580 name: Pigmentary retinopathy xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000581 name: Blepharophimosis alt_id: HP:0000507 alt_id: HP:0000513 def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [pmid:19125427] comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. subset: hposlim_core synonym: "Narrow palpebral fissures" EXACT [] xref: MeSH:D016569 "Blepharophimosis" xref: UMLS:C0005744 "Blepharophimosis" is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000582 name: Upslanted palpebral fissure def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [pmid:19125427] subset: hposlim_core synonym: "Mongoloid slant" EXACT [] synonym: "UPSLANTED PALPEBRAL FISSURES" RELATED [HPO:skoehler] synonym: "Upslanting palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] synonym: "Upward slanting palpebral fissures" EXACT [] xref: UMLS:C0239542 "Mongoloid slant" is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000584 name: Punctate corneal epithelial erosions xref: UMLS:C1832170 "Punctate corneal epithelial erosions" is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0000585 name: Band keratopathy def: "An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." [HPO:probinson] subset: hposlim_core synonym: "Calcific band keratopathy" EXACT [] xref: SNOMEDCT:35055000 "Band-shaped keratopathy" xref: UMLS:C0155120 "Band-shaped keratopathy" is_a: HP:0011493 ! Central opacification of the cornea property_value: HP:0040005 "An `abnormality of the cornea` (HP:0000481) characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000586 name: Shallow orbits alt_id: HP:0002706 def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [HPO:probinson] synonym: "Small shallow orbits" EXACT [] xref: UMLS:C1859765 "Small orbits" is_a: HP:0000520 ! Proptosis [Term] id: HP:0000587 name: Abnormality of the optic nerve def: "Abnormality of the optic nerve." [HPO:probinson] comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. subset: hposlim_core synonym: "optic nerve abnormalities" EXACT [] is_a: HP:0001098 ! Abnormality of the fundus property_value: HP:0040005 "Abnormality of the `optic nerve` (FMA:50863)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000588 name: Optic nerve coloboma alt_id: HP:0007997 def: "A cleft of the optic nerve that extends inferiorly." [HPO:probinson, pmid:16219745] comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. subset: hposlim_core synonym: "Coloboma of optic nerve" EXACT [] synonym: "Optic disk coloboma" EXACT [] xref: UMLS:C0155299 "Optic nerve coloboma" is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0000589 ! Coloboma [Term] id: HP:0000589 name: Coloboma alt_id: HP:0007767 alt_id: HP:0007995 def: "A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa." [HPO:probinson] synonym: "Ocular coloboma" EXACT [] synonym: "Ocular colobomas" EXACT [] xref: MeSH:D003103 "Coloboma" xref: UMLS:C0009363 "Colobomas" is_a: HP:0012372 ! Abnormal eye morphology is_a: HP:0012374 ! Abnormality of the globe property_value: HP:0040005 "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000590 name: Progressive external ophthalmoplegia alt_id: HP:0000562 def: "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [HPO:probinson] comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. synonym: "External ophthalmoplegia, progressive (PEO)" EXACT [] xref: UMLS:C0162674 "Progressive External Ophthalmoplegia" is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0000591 name: Abnormality of the sclera def: "An abnormality of the sclera." [HPO:probinson] subset: hposlim_core is_a: HP:0012374 ! Abnormality of the globe property_value: HP:0040005 "An abnormality of the `sclera` (FMA:58269)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000592 name: Blue sclerae def: "An abnormal bluish coloration of the sclera." [HPO:probinson] subset: hposlim_core synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] xref: UMLS:C0542514 "Blue sclerae" is_a: HP:0000591 ! Abnormality of the sclera property_value: HP:0040005 "An abnormal bluish coloration of the `sclera` (FMA:58269)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000593 name: Abnormality of the anterior chamber def: "Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris." [HPO:probinson] subset: hposlim_core synonym: "Anterior chamber anomalies" EXACT [] synonym: "Ocular anterior chamber abnormality" EXACT [] xref: UMLS:C0266546 "Anterior chamber anomalies" is_a: HP:0004328 ! Abnormality of the anterior segment of the eye property_value: HP:0040005 "Abnormality of the `anterior chamber` (FMA:58078), which is the space in the eye that is behind the cornea and in front of the iris." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000594 name: Shallow anterior chamber def: "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [HPO:probinson] xref: UMLS:C0860573 "Shallow anterior chamber" is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0000597 name: Ophthalmoparesis alt_id: HP:0007701 alt_id: HP:0008044 def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] synonym: "Extraocular muscle palsy" EXACT [] synonym: "Extraocular muscle paralysis" EXACT [] xref: UMLS:C0751401 "Ophthalmoparesis" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000598 name: Abnormality of the ear def: "An abnormality of the ear." [HPO:probinson] comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. subset: hposlim_core synonym: "Ear anomaly" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `ear` (FMA:52780)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000599 name: Abnormality of the frontal hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not." [HPO:probinson] is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0009553 ! Abnormality of the hairline created_by: peter creation_date: 2008-02-27T05:34:00Z [Term] id: HP:0000600 name: Abnormality of the pharynx def: "An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly." [HPO:probinson] comment: The pharynx is tubular structure extending from base of skull superiorly\nto esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system. is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000601 name: Hypotelorism alt_id: HP:0007877 def: "Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [HPO:probinson, pmid:19125427] subset: hposlim_core synonym: "Closely spaced eyes" EXACT [] synonym: "Ocular hypotelorism" EXACT [] xref: UMLS:C0424711 "Ocular hypotelorism" is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000602 name: Ophthalmoplegia def: "Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] xref: MeSH:D009886 "Ophthalmoplegia" xref: UMLS:C0029089 "Ophthalmoplegia" is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000603 name: Central scotoma def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [HPO:probinson] subset: hposlim_core synonym: "Central scotomata" EXACT [] xref: UMLS:C0152191 "Central scotoma" is_a: HP:0000575 ! Scotoma [Term] id: HP:0000605 name: Supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson] synonym: "Supranuclear gaze paralysis" EXACT [] xref: UMLS:C1720037 "Supranuclear gaze palsy" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000606 name: Abnormality of the periorbital region def: "An abnormality of the region situated around the orbit of the eye." [HPO:probinson] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000607 name: Periorbital wrinkles synonym: "Excess periorbital skin wrinkling" EXACT [] synonym: "Periorbital wrinkling" EXACT [] xref: UMLS:C1844605 "Periorbital wrinkles" is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0000608 name: Macular degeneration alt_id: HP:0007694 def: "Degeneration of the macula lutea." [HPO:probinson] synonym: "Pigmented macular degeneration" EXACT [] xref: MeSH:D008268 "Macular degeneration" xref: UMLS:C0024437 "Macular degeneration" is_a: HP:0001103 ! Abnormality of the macula property_value: HP:0040005 "Degeneration of the `macula lutea` (FMA:58637)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000609 name: Optic nerve hypoplasia alt_id: HP:0007273 def: "Underdevelopment of the optic nerve." [HPO:probinson] synonym: "Hypoplastic optic nerves" EXACT [] xref: UMLS:C0338502 "Optic nerve hypoplasia" is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve property_value: HP:0040005 "Underdevelopment of the `optic nerve` (FMA:50863)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000610 name: Abnormality of the choroid def: "An abnormality of the choroid." [HPO:probinson] subset: hposlim_core synonym: "Choroid disease" RELATED [] is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0001098 ! Abnormality of the fundus property_value: HP:0040005 "An abnormality of the `choroid` (FMA:58298)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000611 name: Choroid coloboma alt_id: HP:0007784 def: "A congenital defect in which a portion of choroid is not developed and the corresponding region of the retina is atrophic." [HPO:probinson] synonym: "Choroidal coloboma" EXACT [] synonym: "Coloboma of choroid" EXACT [] xref: UMLS:C0239054 "CHOROID COLOBOMA" is_a: HP:0000589 ! Coloboma is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000612 name: Iris coloboma def: "A coloboma of the iris." [HPO:probinson, pmid:19369671] subset: hposlim_core synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] synonym: "Keyhole iris" EXACT [] xref: UMLS:C0266551 "IRIS COLOBOMA" is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0000589 ! Coloboma property_value: HP:0040005 "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson", xref="pmid:19369671"} [Term] id: HP:0000613 name: Photophobia def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson] comment: Note that the term photodysphoria is used to describe extreme photophobia. subset: hposlim_core synonym: "Photodysphoria" RELATED [] xref: MeSH:D020795 "Photophobia" xref: UMLS:C0085636 "Photophobia" is_a: HP:0000504 ! Abnormality of vision is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000614 name: Abnormality of the nasolacrimal system def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [DDD:ncarter] comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. subset: hposlim_core is_a: HP:0012372 ! Abnormal eye morphology [Term] id: HP:0000615 name: Abnormality of the pupil alt_id: HP:0008018 def: "An abnormality of the pupil." [HPO:probinson] subset: hposlim_core synonym: "Pupillary abnormalities" EXACT [] synonym: "Pupillary abnormality" EXACT [] xref: UMLS:C0154936 "Pupillary abnormalities" is_a: HP:0000525 ! Abnormality of the iris property_value: HP:0040005 "An abnormality of the `pupil` (FMA:58252)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000616 name: Miosis def: "Abnormal (non-physiological) constriction of the pupil." [HPO:probinson] subset: hposlim_core xref: MeSH:D015877 "Miosis" xref: UMLS:C0728710 "Miosis" is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0000617 name: Abnormality of ocular smooth pursuit alt_id: HP:0007671 alt_id: HP:0008006 def: "An abnormality of eye movement characterized by impaired smooth-pursuit eye movements." [HPO:probinson] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. synonym: "Abnormal smooth pursuits" EXACT [] synonym: "Disrupted ocular pursuit movements" EXACT [] synonym: "Impaired smooth pursuit ocular movements" EXACT [] synonym: "Irregular visual pursuit movements" EXACT [] xref: UMLS:C1836393 "Disrupted ocular pursuit movements" is_a: HP:0000496 ! Abnormality of eye movement property_value: HP:0040005 "An `abnormality of eye movement` (HP:0000496) characterized by impaired smooth-pursuit eye movements." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000618 name: Blindness alt_id: HP:0007839 def: "Blindness is the condition of lacking visual perception due to physiological or neurological factors." [DDD:gblack] comment: Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. subset: hposlim_core synonym: "Legal blindness" RELATED [] xref: MeSH:D001766 "Blindness" xref: UMLS:C0376288 "Amaurosis" xref: UMLS:C0456909 "Blindness" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000619 name: Impaired convergence def: "Reduced ability to turn the eyes inward in order to focus on a nearby object." [HPO:probinson] comment: Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target. synonym: "Convergence insufficiency" EXACT [] xref: UMLS:C1846466 "Impaired convergence" is_a: HP:0000549 ! Abnormal conjugate eye movement [Term] id: HP:0000620 name: Dacrocystitis def: "Inflammation of the nasolacrimal sac." [HPO:probinson] comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. xref: UMLS:C0010930 "DACROCYSTITIS" is_a: HP:0000614 ! Abnormality of the nasolacrimal system [Term] id: HP:0000621 name: Entropion def: "An inward turning (inversion) of the eyelid margin." [pmid:19125427] comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. subset: hposlim_core xref: MeSH:D004774 "Entropion" xref: UMLS:C0014390 "Entropion" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000622 name: Blurred vision alt_id: HP:0007723 def: "Lack of sharpness of vision resulting in the inability to see fine detail." [HPO:probinson] comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. subset: hposlim_core xref: UMLS:C0344232 "Blurred vision" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000623 name: Supranuclear ophthalmoplegia def: "A vertical gaze palsy with inability to direct the gaze of the eyes downwards." [HPO:probinson, pmid:20629667] subset: hposlim_core xref: UMLS:C1408507 "Supranuclear ophthalmoplegia" is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000625 name: Cleft eyelid def: "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427] comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. subset: hposlim_core synonym: "Eyelid coloboma" EXACT [] synonym: "Notched eyelid." EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0000589 ! Coloboma [Term] id: HP:0000627 name: Posterior embryotoxon alt_id: HP:0100740 def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe." [HPO:probinson] comment: Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant. subset: hposlim_core synonym: "Embryotoxon" EXACT [] xref: UMLS:C0546967 "Posterior embryotoxon" is_a: HP:0008048 ! Abnormality of the line of Schwalbe property_value: HP:0040005 "A posterior embryotoxon is the presence of a prominent and anteriorly displaced `line of Schwalbe` (FMA:58422)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000629 name: Periorbital fullness def: "Increase in periorbital soft tissue." [HPO:sdoelken] synonym: "Periorbital puffiness" EXACT [] xref: UMLS:C1858036 "Periorbital fullness" is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000630 name: Abnormality of retinal arteries synonym: "Retinal arterial abnormality" EXACT [] is_a: HP:0008046 ! Abnormality of the retinal vasculature is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0000631 name: Retinal arterial tortuosity def: "The presence of an increased number of twists and turns of the retinal artery." [HPO:probinson] subset: hposlim_core synonym: "Retinal artery tortuousity" EXACT [] xref: UMLS:C0423401 "Retinal arterial tortuosity" is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0000632 name: Lacrimation abnormality alt_id: HP:0000521 def: "Abnormality of tear production." [HPO:probinson] synonym: "Abnormality of tear production" EXACT [] is_a: HP:0012373 ! Abnormal eye physiology [Term] id: HP:0000633 name: Decreased lacrimation def: "Abnormally decreased lacrimation, that is, reduced ability to produce tears." [HPO:probinson] xref: UMLS:C0235857 "DECREASED LACRIMATION" is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000634 name: Impaired ocular abduction def: "An impaired ability of the eye to move in the outward direction (towards the side of the head)." [HPO:probinson] xref: UMLS:C1846462 "Impaired ocular abduction" is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000635 name: Blue irides def: "A markedly blue coloration of the iris." [HPO:probinson] synonym: "Blue eyes" EXACT [] xref: UMLS:C0578626 "Blue irides" is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0000636 name: Upper eyelid coloboma def: "A short discontinuity of the margin of the upper eyelid." [HPO:probinson] synonym: "Coloboma of the upper eyelid" EXACT [] synonym: "Upper eyelid colobomas" EXACT [] xref: UMLS:C1863872 "Upper eyelid colobomas" is_a: HP:0000625 ! Cleft eyelid property_value: HP:0040005 "A short discontinuity of the margin of the `upper eyelid` (FMA:54439)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000637 name: Long palpebral fissure alt_id: HP:0007904 def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [pmid:19125427] subset: hposlim_core synonym: "Long palpebral fissures" EXACT [HPO:skoehler] synonym: "Wide palpebral fissure" EXACT [HPO:skoehler] synonym: "Wide palpebral fissures" EXACT [] xref: UMLS:C1849340 "Wide palpebral fissures" is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000639 name: Nystagmus def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] subset: hposlim_core xref: UMLS:C1963184 "NYSTAGMUS" is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0000640 name: Gaze-evoked nystagmus def: "Nystagmus made apparent by looking to the right or to the left." [HPO:curators] is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000641 name: Dysmetric saccades def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [HPO:probinson, pmid:572501] subset: hposlim_core synonym: "Dysmetric eye saccades" EXACT [] xref: UMLS:C1836392 "Dysmetric saccades" is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000642 name: Red-green dyschromatopsia alt_id: HP:0007960 def: "Difficulty with discriminating red and green hues." [DDD:gblack] synonym: "Dyschromatopsia with red-green confusion" EXACT [] synonym: "RED/GREEN COLOR VISION DEFECT" RELATED [HPO:skoehler] xref: UMLS:C1833800 "Red-green dyschromatopsia" is_a: HP:0007641 ! Dyschromatopsia [Term] id: HP:0000643 name: Blepharospasm alt_id: HP:0007907 def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [HPO:probinson] xref: MeSH:D001764 "Blepharospasm" xref: UMLS:C0005747 "Blepharospasm" is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0012179 ! Craniofacial dystonia [Term] id: HP:0000646 name: Amblyopia def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways." [HPO:probinson] comment: Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. subset: hposlim_core xref: MeSH:D000550 "Amblyopia" xref: UMLS:C0002418 "Amblyopia" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000647 name: Sclerocornea def: "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [HPO:probinson] subset: hposlim_core xref: UMLS:C1853235 "SCLEROCORNEA" is_a: HP:0007957 ! Corneal opacity [Term] id: HP:0000648 name: Optic atrophy alt_id: HP:0007751 alt_id: HP:0007855 def: "Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] comment: The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. subset: hposlim_core synonym: "Optic nerve atrophy" EXACT [] synonym: "Optic-nerve degeneration" EXACT [] xref: MeSH:D009896 "Optic Atrophy" xref: UMLS:C0029124 "Optic Atrophy" is_a: HP:0012795 ! Abnormality of the optic disc property_value: HP:0040005 "`Atrophy` (MPATH:127) of the `optic nerve` (FMA:50863). Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000649 name: Abnormality of vision evoked potentials def: "An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." [HPO:probinson] comment: The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent. subset: hposlim_core synonym: "Abnormal visual evoked potential" EXACT [] synonym: "Abnormal visual evoked potentials" EXACT [] synonym: "Abnormal visual evoked responses" EXACT [] synonym: "Abnormal visual-evoked potentials" EXACT [] synonym: "VEP abnormalities" EXACT [] xref: UMLS:C0522214 "Abnormal visual evoked potentials" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000650 name: Reduced amplitude of pattern visual evoked potentials is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0000651 name: Diplopia def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:probinson] subset: hposlim_core synonym: "Double vision" EXACT [] xref: MeSH:D004172 "Diplopia" xref: UMLS:C0012569 "Diplopia" is_a: HP:0011514 ! Abnormality of binocular vision [Term] id: HP:0000652 name: Lower eyelid coloboma alt_id: HP:0007909 def: "A short discontinuity of the margin of the lower eyelid." [HPO:probinson] synonym: "Coloboma of lower eyelid" EXACT [] synonym: "Lower lid coloboma" EXACT [] xref: UMLS:C1837826 "Lower eyelid coloboma" is_a: HP:0000625 ! Cleft eyelid property_value: HP:0040005 "A short discontinuity of the margin of the `lower eyelid` (FMA:54442)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000653 name: Sparse eyelashes alt_id: HP:0002284 alt_id: HP:0004519 alt_id: HP:0004531 alt_id: HP:0004555 alt_id: HP:0004777 alt_id: HP:0007853 def: "Decreased density/number of eyelashes." [pmid:19125427] subset: hposlim_core synonym: "Scant eyelashes" EXACT [] synonym: "Scanty eyelashes" EXACT [] xref: UMLS:C1835682 "Scant eyelashes" xref: UMLS:C1843300 "Sparse eyelashes" is_a: HP:0008070 ! Sparse hair is_a: HP:0200102 ! Sparse or absent eyelashes [Term] id: HP:0000654 name: Decreased electroretinogram (ERG) amplitude alt_id: HP:0007636 alt_id: HP:0007689 alt_id: HP:0007845 def: "Descreased amplitude of eletrical response upon electroretinography." [HPO:probinson] synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT [] synonym: "Decreased electroretinogram" EXACT [] synonym: "Decreased electroretinogram response" EXACT [] synonym: "Flattened or absent electroretinogram" EXACT [] synonym: "Reduced electroretinogram" EXACT [] synonym: "Reduced electroretinogram (ERG)" EXACT [] synonym: "Reduced or abolished electroretinogram" EXACT [] is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000655 name: Vitreoretinal degeneration def: "Gradual deterioration of the vitreous humor and retina." [HPO:probinson] subset: hposlim_core xref: UMLS:C0344290 "Vitreoretinal degeneration" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000656 name: Ectropion def: "An outward turning (eversion) or rotation of the eyelid margin." [pmid:19125427] comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. subset: hposlim_core xref: MeSH:D004483 "Ectropion" xref: UMLS:C0013592 "Ectropion" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000657 name: Oculomotor apraxia alt_id: HP:0000628 alt_id: HP:0007764 def: "Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [HPO:probinson, pmid:20615230] comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. subset: hposlim_core synonym: "Defective or absent horizontal voluntary eye movements" RELATED [] synonym: "Ocular motor apraxia" EXACT [] xref: UMLS:C0497202 "Abnormal eye movements" is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia xref: UMLS:C1142448 "Eyelid apraxia" is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0002186 ! Apraxia [Term] id: HP:0000659 name: Peters anomaly def: "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity." [HPO:probinson] subset: hposlim_core xref: UMLS:C0344559 "Peter's anomaly" is_a: HP:0007700 ! Anterior segment dysgenesis [Term] id: HP:0000660 name: Lipemia retinalis def: "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [pmid:10379021, pmid:16120862] comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). xref: UMLS:C0339477 "Lipaemia retinalis" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000661 name: Palpebral fissure narrowing on adduction is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0000662 name: Night blindness alt_id: HP:0007653 alt_id: HP:0007725 alt_id: HP:0007865 alt_id: HP:0007895 def: "Inability to see well at night or in poor light." [HPO:probinson] subset: hposlim_core synonym: "Difficulties with night vision" RELATED [] synonym: "Nyctalopia" EXACT [] xref: MeSH:D009755 "Night Blindness" xref: UMLS:C0028077 "Night Blindness" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000664 name: Synophrys alt_id: HP:0002210 def: "Meeting of the medial eyebrows in the midline." [pmid:19125427] subset: hposlim_core synonym: "Synophris" EXACT [] synonym: "Unibrow" EXACT [] xref: UMLS:C0431447 "Synophrys" is_a: HP:0000534 ! Abnormality of the eyebrow is_a: HP:0002219 ! Facial hypertrichosis property_value: HP:0040005 "Meeting of the medial `eyebrows` (FMA:54237) in the midline." xsd:string {xref="pmid:19125427"} [Term] id: HP:0000666 name: Horizontal nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements." [HPO:probinson] subset: hposlim_core synonym: "Nystagmus, horizontal" EXACT [] xref: UMLS:C0271385 "Horizontal Nystagmus" is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000667 name: Phthisis bulbi def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:probinson] comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye. subset: hposlim_core xref: UMLS:C0271007 "Phthisis bulbi" is_a: HP:0012374 ! Abnormality of the globe [Term] id: HP:0000668 name: Hypodontia def: "A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing." [HPO:ibailleulforestier] comment: Hypodontia refers to a reduced number of primary or permanent teeth. Hypodontia may affect either both primary and permanent teeth or only the permanent teeth. Wisdom teeth (the third secondary maxillary and mandibular molar teeth) are not included in this count. subset: hposlim_core xref: MeSH:D000848 "Hypodontia" xref: UMLS:C0020608 "Hypodontia" is_a: HP:0009804 ! Reduced number of teeth property_value: HP:0040005 "A developmental anomaly characterized by a `reduced number of` (PATO:0001999) teeth, whereby up to 6 teeth are missing." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000670 name: Carious teeth alt_id: HP:0006295 alt_id: HP:0006306 def: "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [HPO:probinson] comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. subset: hposlim_core synonym: "Caries" EXACT [] synonym: "Dental caries" EXACT [] synonym: "Dental decay" RELATED [] synonym: "Early dental caries" EXACT [] synonym: "Frequent caries" EXACT [] xref: MeSH:D003731 "Dental Caries" xref: SNOMEDCT:65413006 "Caries" xref: SNOMEDCT:80967001 "Dental caries" xref: UMLS:C0011334 "Dental caries" xref: UMLS:C1867882 "Early dental caries" is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000674 name: Anodontia alt_id: HP:0006484 def: "The congenital absence of all teeth." [HPO:ibailleulforestier] comment: Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth. synonym: "Dental agenesis" EXACT [] xref: MeSH:D000848 "Anodontia" xref: SNOMEDCT:16958000 "Complete congenital absence of teeth" xref: SNOMEDCT:26624006 "Anodontia" xref: UMLS:C1504306 "Anodontia" is_a: HP:0009804 ! Reduced number of teeth property_value: HP:0040005 "The congenital `absence` (PATO:0002000) of all teeth." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000675 name: Macrodontia of permanent maxillary central incisor def: "Increased size of the maxillary central secondary incisor tooth." [HPO:ibailleulforestier] synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] is_a: HP:0011081 ! Incisor macrodontia property_value: HP:0040005 "`Increased size` (PATO:0000586) of the `maxillary central secondary incisor tooth` (FMA:55722)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000676 name: Abnormality of the incisor alt_id: HP:0006340 def: "An abnormality of the Incisor tooth." [HPO:probinson] is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "An abnormality of the `Incisor tooth` (FMA:12823)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000677 name: Oligodontia alt_id: HP:0000702 def: "A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing." [HPO:curators, pmid:19125428] comment: The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. synonym: "Partial anodontia" EXACT [] xref: UMLS:C0020608 "Hypodontia" is_a: HP:0009804 ! Reduced number of teeth property_value: HP:0040005 "A developmental anomaly characterized by a `reduced number of` (PATO:0001999) teeth, whereby more than 6 teeth are missing." xsd:string {xref="HPO:curators", xref="pmid:19125428"} [Term] id: HP:0000678 name: Dental crowding def: "Overlapping teeth within an alveolar ridge." [pmid:19125428] subset: hposlim_core synonym: "Crowded teeth" EXACT [] synonym: "Dental overcrowding" EXACT [] xref: SNOMEDCT:12351004 "Crowding of teeth" xref: UMLS:C0040433 "Tooth Crowding" xref: UMLS:C1847525 "Dental crowding" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000679 name: Taurodontia def: "Increased volume of dental pulp of permanent molar." [HPO:ibailleulforestier] comment: Body of the tooth and pulp chamber is enlarged. subset: hposlim_core synonym: "Taurodontism" EXACT [] xref: MeSH:C536946 "Taurodontism" xref: SNOMEDCT:51744007 "Taurodontism" xref: UMLS:C1848911 "Taurodontia" is_a: HP:0006479 ! Abnormality of the dental pulp is_a: HP:0006486 ! Abnormality of the dental root is_a: HP:0011071 ! Abnormality of permanent molar morphology property_value: HP:0040005 "`Increased volume` (PATO:0000595) of `dental pulp` (FMA:55631) of `permanent molar` (FMA:84207)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000680 name: Delayed eruption of primary teeth def: "Delayed tooth eruption affecting the primary dentition." [HPO:ibailleulforestier] synonym: "Delayed eruption of deciduous teeth" EXACT [] synonym: "Delayed primary teeth eruption" EXACT [] xref: UMLS:C1867100 "Delayed primary teeth eruption" is_a: HP:0000684 ! Delayed eruption of teeth is_a: HP:0006481 ! Abnormality of primary teeth property_value: HP:0040005 "`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D014078) affecting the `primary dentition` (FMA:75151)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000682 name: Abnormality of dental enamel alt_id: HP:0006322 def: "An abnormality of the dental enamel." [HPO:probinson] comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. subset: hposlim_core synonym: "Abnormal tooth enamel" EXACT [] synonym: "Enamel abnormalities" EXACT [] synonym: "Enamel abnormality" EXACT [] xref: UMLS:C0235694 "Enamel anomaly" is_a: HP:0011061 ! Abnormality of dental structure property_value: HP:0040005 "An abnormality of the `dental enamel` (FMA:55629)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000683 name: Grayish enamel def: "A grey discoloration of the dental enamel." [HPO:ibailleulforestier] comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. synonym: "Greyish enamel" EXACT [] xref: UMLS:C1854783 "Grayish enamel" is_a: HP:0000682 ! Abnormality of dental enamel is_a: HP:0011073 ! Abnormality of dental color property_value: HP:0040005 "A `grey` (PATO:0000950) `discoloration` (PATO:0000331) of the `dental enamel` (FMA:55629)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000684 name: Delayed eruption of teeth alt_id: HP:0000686 alt_id: HP:0006294 alt_id: HP:0006314 alt_id: HP:0006328 def: "Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [HPO:ibailleulforestier, pmid:19125428] comment: This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. subset: hposlim_core synonym: "Delayed dental development" EXACT [] synonym: "Delayed dental eruption" EXACT [] synonym: "Delayed eruption" EXACT [] synonym: "Delayed teeth eruption" EXACT [] synonym: "Delayed tooth eruption" EXACT [] synonym: "Eruption, delayed" EXACT [] synonym: "Late eruption of teeth" EXACT [] synonym: "Late tooth eruption" EXACT [] xref: SNOMEDCT:5639000 "Late tooth eruption" xref: UMLS:C0239174 "Late tooth eruption" xref: UMLS:C1866235 "Delayed dental eruption" is_a: HP:0006292 ! Abnormality of dental eruption property_value: HP:0040005 "`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D014078), which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." xsd:string {xref="HPO:ibailleulforestier", xref="pmid:19125428"} [Term] id: HP:0000685 name: Hypoplasia of teeth alt_id: HP:0000688 alt_id: HP:0006281 alt_id: HP:0006307 def: "Developmental hypoplasia of teeth." [HPO:ibailleulforestier] synonym: "Hypoplastic teeth" EXACT [] xref: UMLS:C1855437 "Hypoplastic teeth" is_a: HP:0011061 ! Abnormality of dental structure property_value: HP:0040005 "Developmental hypoplasia of `teeth` (FMA:12516)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000687 name: Widely spaced teeth def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [pmid:19125428] comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. subset: hposlim_core synonym: "Multiple diastemata" EXACT [] synonym: "Wide-spaced teeth" EXACT [] synonym: "Widely-spaced teeth" EXACT [] xref: UMLS:C1855414 "Widely spaced teeth" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000689 name: Dental malocclusion def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] synonym: "Malocclusion" EXACT [] xref: MeSH:D008310 "Malocclusion" xref: UMLS:C0024636 "Dental malocclusion" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000690 name: Agenesis of maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor." [HPO:ibailleulforestier] synonym: "Absent upper lateral incisors" EXACT [] xref: UMLS:C1849950 "Absent upper lateral incisors" is_a: HP:0200153 ! Agenesis of lateral incisor is_a: HP:0200160 ! Agenesis of maxillary incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of one or more maxillary lateral incisor, comprising the `maxillary lateral primary incisor` (FMA84217) and `maxillary lateral secondary incisor` (FMA:55724)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000691 name: Microdontia def: "Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [HPO:ibailleulforestier, pmid:19125428] comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. subset: hposlim_core synonym: "Small teeth" EXACT [] xref: SNOMEDCT:32337007 "Microdontia" xref: UMLS:C0240340 "Microdontia" is_a: HP:0006482 ! Abnormality of dental morphology property_value: HP:0040005 "`Decreased size` (PATO:0000587) of the `teeth` (FMA:12516), which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." xsd:string {xref="HPO:ibailleulforestier", xref="pmid:19125428"} [Term] id: HP:0000692 name: Misalignment of teeth alt_id: HP:0000693 alt_id: HP:0001569 alt_id: HP:0006303 alt_id: HP:0006478 def: "Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth." [HPO:ibailleulforestier] synonym: "Abnormal dental position" EXACT [] synonym: "Abnormal teeth spacing" EXACT [] synonym: "Abnormality of teeth spacing" EXACT [] synonym: "Malaligned teeth" EXACT [] synonym: "Malposition of teeth" EXACT [] synonym: "Malpositioned teeth" EXACT [] xref: UMLS:C0155940 "Malpositioned teeth" is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "Abnormal alignment, positioning, or spacing of the teeth, i.e., `misaligned` (PATO:0001654) `teeth` (FMA:12516)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000694 name: Shell teeth def: "A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [HPO:ibailleulforestier] xref: UMLS:C0206554 "Shell teeth" is_a: HP:0000703 ! Dentinogenesis imperfecta [Term] id: HP:0000695 name: Natal tooth def: "Erupted tooth or teeth at birth." [pmid:19125428] subset: hposlim_core synonym: "Natal teeth" EXACT [] synonym: "Neonatal teeth" EXACT [] xref: MeSH:D009306 "Natal Teeth" xref: SNOMEDCT:21995002 "Natal tooth" xref: UMLS:C0027443 "Natal Teeth" xref: UMLS:C0266049 "Neonatal tooth" is_a: HP:0006288 ! Advanced eruption of teeth [Term] id: HP:0000696 name: Delayed eruption of permanent teeth def: "Delayed tooth eruption affecting the secondary dentition." [HPO:ibailleulforestier] synonym: "Delayed eruption of secondary teeth" EXACT [] synonym: "Delayed permanent dentition" EXACT [] xref: UMLS:C1859820 "Delayed permanent dentition" is_a: HP:0000684 ! Delayed eruption of teeth property_value: HP:0040005 "`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D014078) affecting the `secondary dentition` (FMA:55654)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000698 name: Conical tooth def: "An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Conical teeth" RELATED [] synonym: "Peg shaped teeth" EXACT [] synonym: "Peg tooth" EXACT [] synonym: "Peg-shaped teeth" EXACT [] xref: SNOMEDCT:29553002 "Peg-shaped teeth" xref: UMLS:C0266037 "Conical teeth" is_a: HP:0006482 ! Abnormality of dental morphology property_value: HP:0040005 "An abnormal `conical` (PATO:0002021) form of the `teeth` (FMA:12516), that is, a tooth whose sides converge or taper together incisally." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000699 name: Diastema def: "Increased space between two adjacent teeth in the same dental arch." [pmid:19125428] comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. subset: hposlim_core xref: MeSH:D003970 "Diastema" xref: SNOMEDCT:35591002 "Diastema of teeth" xref: UMLS:C1014152 "Diastema" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000700 name: Periapical radiolucency def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [HPO:ibailleulforestier] comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. synonym: "Periapical radiolucencies" RELATED [] xref: UMLS:C1852169 "Periapical radiolucencies" is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000703 name: Dentinogenesis imperfecta def: "Developmental dysplasia of dentin." [HPO:ibailleulforestier] comment: This term refers to the phenotypic feature of dentinogenesis imperfecta rather than to the disease entity. subset: hposlim_core xref: MeSH:D003811 "Dentinogenesis imperfecta" xref: SNOMEDCT:196286005 "Dentinogenesis imperfecta" xref: UMLS:C0011436 "Dentinogenesis Imperfecta" is_a: HP:0010299 ! Abnormality of dentin property_value: HP:0040005 "`Developmental dysplasia` of `dentin` (FMA:55628)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000704 name: Periodontitis alt_id: HP:0000165 alt_id: HP:0006301 def: "Inflammation of the periodontium." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Periodontal disease" BROAD [] xref: MeSH:D010518 "Periodontitis" xref: SNOMEDCT:41565005 "Periodontitis" xref: UMLS:C0031099 "Periodontitis" is_a: HP:0000164 ! Abnormality of the teeth is_a: HP:0000168 ! Abnormality of the gingiva property_value: HP:0040005 "`Inflammation` (MPATH:212) of the `periodontium` (FMA:56665)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0000705 name: Amelogenesis imperfecta alt_id: HP:0006284 alt_id: HP:0006310 alt_id: HP:0006325 alt_id: HP:0006327 alt_id: HP:0006331 def: "A developmental dysplasia of the dental enamel." [HPO:ibailleulforestier, pmid:18499550] comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. subset: hposlim_core xref: MeSH:D000567 "Amelogenesis imperfecta" xref: SNOMEDCT:78494001 "Amelogenesis imperfecta" xref: UMLS:C0002452 "Amelogenesis Imperfecta" is_a: HP:0000682 ! Abnormality of dental enamel property_value: HP:0040005 "A `developmental dysplasia` (MPATH:64) of the `dental enamel` (FMA:55629)." xsd:string {xref="HPO:ibailleulforestier", xref="pmid:18499550"} [Term] id: HP:0000706 name: Unerupted tooth def: "The presence of one or more embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier] xref: MeSH:D014097 "Tooth, Unerupted" xref: UMLS:C0040458 "Teeth, Unerupted" is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000707 name: Abnormality of the nervous system alt_id: HP:0001333 alt_id: HP:0006987 def: "An abnormality of the nervous system." [HPO:probinson] comment: The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. synonym: "Neurologic abnormalities" EXACT [] synonym: "Neurological abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `nervous system` (FMA:7157)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000708 name: Behavioral abnormality alt_id: HP:0000715 alt_id: HP:0002368 alt_id: HP:0002456 def: "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson] synonym: "Behavioral changes" EXACT [] synonym: "Behavioral disorders" EXACT [] synonym: "Behavioral disturbances" EXACT [] synonym: "Behavioral problems" EXACT [] synonym: "Behavioral symptoms" RELATED [] synonym: "Behavioral/psychiatric abnormalities" EXACT [] synonym: "Behavioural/Psychiatric abnormality" EXACT [] synonym: "Psychiatric disorders" EXACT [] synonym: "Psychiatric disturbances" EXACT [] xref: UMLS:C1856060 "Psychiatric disturbances" is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0000709 name: Psychosis def: "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] xref: UMLS:C0033975 "Psychotic" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000710 name: Hyperorality def: "A tendency or compulsion to examine objects by mouth." [HPO:sdoelken] synonym: "Hyperoralia" EXACT [] xref: UMLS:C1843802 "Hyperorality" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000711 name: Restlessness xref: UMLS:C0085631 "Restlessness" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000712 name: Emotional lability alt_id: HP:0008766 synonym: "Emotional instability" EXACT [] xref: UMLS:C0085633 "Mood change" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000713 name: Agitation xref: UMLS:C1963060 "Agitation" is_a: HP:0000711 ! Restlessness [Term] id: HP:0000716 name: Depression def: "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] synonym: "Depressive disorder" RELATED [] xref: MeSH:D003863 "Depression" xref: UMLS:C0344315 "Depressed" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000717 name: Autism def: "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [DDD:hvfirth] comment: The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism. xref: UMLS:C0004352 "Autism" is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000718 name: Aggressive behavior def: "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] synonym: "Aggression" EXACT [] synonym: "Aggressive behaviour" EXACT [] synonym: "Aggressiveness" EXACT [] synonym: "physical aggression" RELATED [] xref: MeSH:D000374 "Aggression" is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior [Term] id: HP:0000719 name: Inappropriate behavior xref: UMLS:C0233522 "Inappropriate behavior" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000720 name: Mood swings def: "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators] xref: UMLS:C0085633 "Mood change" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000721 name: Lack of spontaneous play is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000722 name: Obsessive-compulsive behavior def: "Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV)." [HPO:probinson] synonym: "Obsessive compulsive behavior" EXACT [] synonym: "Obsessive compulsive disorder" EXACT [] synonym: "Obsessive-compulsive disorder" EXACT [] xref: MeSH:D009771 "Obsessive-Compulsive Disorder" xref: UMLS:C0028768 "Obsessive-Compulsive Disorder" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000723 name: Restrictive behavior def: "Behavior characterized by an abnormal limitation to few interests and activities." [HPO:probinson] synonym: "Restricted behavior" EXACT [] synonym: "RESTRICTIVE BEHAVIOR, INTERESTS, AND ACTIVITIES" RELATED [HPO:skoehler] synonym: "Restrictive behaviour" EXACT [] is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000725 name: Psychotic episodes xref: UMLS:C0338614 "Psychotic episodes" is_a: HP:0000709 ! Psychosis [Term] id: HP:0000726 name: Dementia alt_id: HP:0002274 alt_id: HP:0007122 alt_id: HP:0007150 alt_id: HP:0007283 def: "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson] synonym: "Dementia, progressive" EXACT [] synonym: "Progressive dementia" EXACT [] xref: MeSH:D003704 "Dementia" xref: UMLS:C0497327 "Dementia" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0000727 name: Frontal lobe dementia xref: UMLS:C1846712 "Frontal lobe dementia" is_a: HP:0000726 ! Dementia [Term] id: HP:0000728 name: Impaired ability to form peer relationships is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000729 name: Autistic behavior def: "A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [DSM-IV:299.00, HPO:probinson] comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. synonym: "Autism spectrum disorder" RELATED [] synonym: "AUTISM SPECTRUM DISORDERS" RELATED [HPO:skoehler] synonym: "AUTISTIC BEHAVIORS" RELATED [HPO:skoehler] synonym: "Pervasive developmental disorder" EXACT [] xref: UMLS:C0524528 "Pervasive Developmental Disorder NOS" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000732 name: Inflexible adherence to routines or rituals is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000733 name: Stereotypic behavior alt_id: HP:0008758 alt_id: HP:0008759 def: "A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps." [HPO:probinson] comment: An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. synonym: "Stereotyped behavior" EXACT [] synonym: "STEREOTYPED BEHAVIORS" RELATED [HPO:skoehler] synonym: "Stereotyped, repetitive behaviour" EXACT [] synonym: "Stereotypic behaviors" EXACT [] synonym: "Stereotypical motor behaviors" EXACT [] synonym: "Stereotypy" EXACT [] synonym: "Sterotyped behavior" EXACT [] xref: MeSH:D013239 "Stereotypic behavior" xref: UMLS:C1843368 "Perseverative behavior" xref: UMLS:C1845867 "Stereotypical motor behaviors" xref: UMLS:C1846041 "Stereotypic behavior" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000734 name: Disinhibition def: "A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment." [HPO:sdoelken] comment: Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives. xref: UMLS:C0424296 "Disinhibition" is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0000735 name: Impaired social interactions def: "Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships." [HPO:probinson] synonym: "Impaired social interaction" EXACT [] synonym: "Poor social interactions" EXACT [] xref: UMLS:C1839794 "Poor social interactions" is_a: HP:0000729 ! Autistic behavior is_a: HP:0012433 ! Abnormal social behavior [Term] id: HP:0000736 name: Short attention span def: "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] synonym: "Poor attention span" EXACT [] xref: UMLS:C0262630 "Short attention span" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000737 name: Irritability xref: UMLS:C0022107 "Irritability" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000738 name: Hallucinations def: "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space." [HPO:sdoelken] synonym: "Hallucination" EXACT [] xref: MeSH:D006212 "Hallucinations" xref: UMLS:C0018524 "Hallucinations" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000739 name: Anxiety def: "Feeling or dread, apprehension, and impending disaster." [HPO:probinson] synonym: "Anxiety disease" RELATED [] xref: MeSH:D001007 "Anxiety" xref: UMLS:C0860603 "anxiety" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000740 name: Anxiety (with pheochromocytoma) is_a: HP:0000739 ! Anxiety [Term] id: HP:0000741 name: Apathy def: "Lack of emotion or emotional expression; a disorder of motivation that persists over time." [MeSH:D057565] xref: MeSH:D057565 "Apathy" xref: UMLS:C0085632 "Apathy" is_a: HP:0000745 ! Diminished motivation [Term] id: HP:0000742 name: Self-mutilation synonym: "Self mutilation" EXACT [] xref: MeSH:D012652 "Self mutilation" xref: UMLS:C2242914 "self-mutilation" is_a: HP:0100716 ! Self-injurious behavior [Term] id: HP:0000743 name: Frontal release signs alt_id: HP:0006911 def: "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes." [HPO:sdoelken] synonym: "Frontal release reflexes" EXACT [] xref: UMLS:C1836153 "Frontal release signs" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000744 name: Low frustration tolerance xref: UMLS:C0548883 "Low frustration tolerance" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000745 name: Diminished motivation def: "A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action." [HPO:probinson, pmid:16030444] synonym: "Lack of motivation" EXACT [] is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000746 name: Delusions def: "A belief that is pathological and is held despite evidence to the contrary." [HPO:sdoelken] xref: MeSH:D003702 "Delusions" xref: UMLS:C0011253 "Delusions" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000748 name: Inappropriate laughter xref: UMLS:C0424304 "Inappropriate laughter" is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0000749 name: Paroxysmal bursts of laughter synonym: "Paroxysmal laughter" EXACT [] xref: UMLS:C1862914 "Paroxysmal laughter" is_a: HP:0000748 ! Inappropriate laughter [Term] id: HP:0000750 name: Delayed speech and language development alt_id: HP:0002116 alt_id: HP:0002117 alt_id: HP:0002336 alt_id: HP:0002399 alt_id: HP:0002498 alt_id: HP:0006936 alt_id: HP:0007004 alt_id: HP:0007127 alt_id: HP:0007170 alt_id: HP:0007172 def: "A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. synonym: "Deficiency of speech development" EXACT [] synonym: "Delayed language development" EXACT [] synonym: "Delayed speech" EXACT [HPO:skoehler] synonym: "Delayed speech acquisition" EXACT [] synonym: "Delayed speech development" EXACT [] synonym: "Impaired speech and language development" EXACT [] synonym: "Impaired speech development" EXACT [] synonym: "Language delay" EXACT [] synonym: "Language delayed" EXACT [] synonym: "Language development deficit" EXACT [] synonym: "Late-onset speech development" EXACT [] synonym: "Poor language development" EXACT [] synonym: "POOR SPEECH ACQUISITION" RELATED [HPO:skoehler] synonym: "POOR SPEECH DEVELOPMENT" RELATED [HPO:skoehler] synonym: "Speech and language delay" EXACT [] synonym: "Speech and language difficulties" EXACT [] synonym: "Speech delay" EXACT [] synonym: "Speech difficulties" RELATED [] xref: UMLS:C0233715 "speech difficulties" xref: UMLS:C1836708 "Delayed speech development" xref: UMLS:C1837687 "Impaired language development" xref: UMLS:C1861134 "Late-onset speech development" is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0000751 name: Personality changes def: "An abnormal shift in patterns of thinking, acting, or feeling." [HPO:probinson] comment: This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. synonym: "Personality change" EXACT [] xref: UMLS:C0240735 "Personality change" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000752 name: Hyperactivity alt_id: HP:0008764 synonym: "Hyperactive behavior" EXACT [] xref: UMLS:C0424295 "Hyper" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000753 name: Autism with high cognitive abilities is_a: HP:0000729 ! Autistic behavior [Term] id: HP:0000756 name: Agoraphobia def: "A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather." [HPO:probinson] xref: MeSH:D000379 "Agoraphobia" xref: UMLS:C2188188 "agoraphobia" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000757 name: Lack of insight is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0000758 name: Impaired use of nonverbal behaviors def: "Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures." [HPO:probinson] synonym: "Impaired use of nonverbal behaviours" EXACT [] is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000759 name: Abnormal peripheral nervous system morphology alt_id: HP:0003483 def: "An abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system)." [HPO:probinson] comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. synonym: "Peripheral nervous system disease" RELATED [] xref: MeSH:D010523 "Peripheral Nervous System Diseases" is_a: HP:0012639 ! Abnormality of nervous system morphology property_value: HP:0040005 "An abnormality of the `peripheral nervous system` (FMA:9903), which is composed of the nerves that lead to or branch off from the central nervous system." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000762 name: Decreased nerve conduction velocity alt_id: HP:0000761 alt_id: HP:0007118 alt_id: HP:0007218 alt_id: HP:0007231 def: "A reduction in the speed at which electrical signals propagate along the axon of a neuron." [HPO:probinson] comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. synonym: "Decreased nerve conduction velocities (NCV)" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] xref: UMLS:C0234090 "Abnormal nerve conduction" is_a: HP:0040129 ! Abnormal nerve conduction velocity property_value: HP:0040005 "A reduction in the speed at which electrical signals propagate along the axon of a `neuron` (FMA:54527)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000763 name: Sensory neuropathy alt_id: HP:0003410 alt_id: HP:0006815 alt_id: HP:0007043 alt_id: HP:0007142 def: "Peripheral neuropathy affecting the sensory nerves." [HPO:curators] synonym: "Peripheral sensory neuropathy" EXACT [] xref: UMLS:C0151313 "Sensory neuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0000764 name: Peripheral axonal degeneration alt_id: HP:0006787 alt_id: HP:0006876 alt_id: HP:0007304 def: "Progressive deterioration of peripheral axons." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. xref: UMLS:C1837496 "Axonal degeneration" is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0000765 name: Abnormality of the thorax alt_id: HP:0100655 def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] synonym: "Abnormality of the chest" EXACT [] is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000766 name: Abnormality of the sternum alt_id: HP:0000780 alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 alt_id: HP:0006708 def: "An anomaly of the sternum, also known as the breastbone." [HPO:probinson] subset: hposlim_core synonym: "Pectus carinatum or pectus excavatum" EXACT [] synonym: "Pectus deformities" EXACT [] synonym: "Pectus deformity" EXACT [] synonym: "Pectus excavatum or carinatum" EXACT [] synonym: "Pectus excavatum or pectus carinatum" EXACT [] synonym: "Pectus excavatum/carinatum" EXACT [] synonym: "Sternal anomalies" EXACT [] xref: UMLS:C1860493 "Sternal anomalies" is_a: HP:0000765 ! Abnormality of the thorax property_value: HP:0040005 "An anomaly of the `sternum` (FMA:7485), also known as the breastbone." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000767 name: Pectus excavatum alt_id: HP:0006613 alt_id: HP:0006617 def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:probinson] subset: hposlim_core synonym: "Funnel chest" EXACT [] xref: MeSH:D005660 "Funnel Chest" xref: SNOMEDCT:391987005 "Pectus excavatum" xref: UMLS:C0016842 "Pectus Excavatum" is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000768 name: Pectus carinatum alt_id: HP:0006639 def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:38774000 "Pectus carinatum" xref: UMLS:C2939416 "Pectus carinatum" is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000769 name: Abnormality of the breast def: "An abnormality of the breast." [HPO:probinson] subset: hposlim_core is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `breast` (FMA:9601)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000771 name: Gynecomastia alt_id: HP:0000770 def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson] subset: hposlim_core synonym: "Gynaecomastia" EXACT [] xref: MeSH:D006177 "Gynecomastia" xref: SNOMEDCT:4754008 "Gynecomastia" xref: UMLS:C0018418 "Gynecomastia" is_a: HP:0000769 ! Abnormality of the breast [Term] id: HP:0000772 name: Abnormality of the ribs alt_id: HP:0006618 def: "An anomaly of the rib." [HPO:probinson] subset: hposlim_core synonym: "Rib abnormalities" EXACT [] synonym: "Rib anomalies" EXACT [] xref: UMLS:C0432172 "Rib anomalies" is_a: HP:0001547 ! Abnormality of the rib cage property_value: HP:0040005 "An anomaly of the `rib` (FMA:7574)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000773 name: Short ribs alt_id: HP:0000899 alt_id: HP:0000908 alt_id: HP:0009750 def: "Reduced rib length." [HPO:probinson] synonym: "Hypoplastic ribs" EXACT [] synonym: "Rib hypoplasia" EXACT [] xref: UMLS:C0426817 "Short ribs" xref: UMLS:C1868159 "Hypoplastic ribs" is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000774 name: Narrow chest alt_id: HP:0000909 alt_id: HP:0005252 alt_id: HP:0006588 def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [HPO:probinson] synonym: "Low chest circumference" EXACT [] synonym: "Narrow shoulders" EXACT [] synonym: "Narrow thorax" EXACT [] synonym: "Reduced anterior-posterior chest diameter" EXACT [] xref: UMLS:C1843667 "Narrow chest" is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0000775 name: Abnormality of the diaphragm alt_id: HP:0005204 def: "Any abnormality of the diaphragm." [HPO:probinson] synonym: "Diaphragmatic defect" EXACT [] xref: UMLS:C1848873 "Diaphragmatic defect" is_a: HP:0001438 ! Abnormality of the abdomen is_a: HP:0012252 ! Abnormal respiratory system morphology property_value: HP:0040005 "Any abnormality of the `diaphragm` (FMA:13295)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000776 name: Congenital diaphragmatic hernia alt_id: HP:0006604 def: "The presence of a hernia of the diaphragm present at birth." [HPO:probinson] comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. synonym: "Diaphragmatic hernia" EXACT [] xref: UMLS:C0235833 "Congenital diaphragmatic hernia" is_a: HP:0000775 ! Abnormality of the diaphragm is_a: HP:0100790 ! Hernia property_value: HP:0040005 "The presence of a `hernia` (MPATH:75) of the `diaphragm` (FMA:13295) present at birth." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000777 name: Abnormality of the thymus def: "Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." [HPO:probinson] synonym: "Thymic hypoplasia" EXACT [] xref: UMLS:C0685891 "Thymic hypoplasia" is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: HP:0040005 "Abnormality of the `thymus` (FMA:9607), an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000778 name: Hypoplasia of the thymus def: "Underdevelopment of the thymus." [HPO:curators] synonym: "Thymus hypoplasia" EXACT [] xref: UMLS:C0685891 "Thymic hypoplasia" is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus property_value: HP:0040005 "Underdevelopment of the `thymus` (FMA:9607)." xsd:string {xref="HPO:curators"} [Term] id: HP:0000782 name: Abnormality of the scapula def: "Any abnormality of the scapula, also known as the shoulder blade." [HPO:probinson] subset: hposlim_core is_a: HP:0000765 ! Abnormality of the thorax property_value: HP:0040005 "Any abnormality of the `scapula` (FMA:13394), also known as the shoulder blade." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000786 name: Primary amenorrhea xref: UMLS:C0232939 "Primary amenorrhea" is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000787 name: Nephrolithiasis alt_id: HP:0000102 def: "The presence of calculi (stones) in the kidneys." [HPO:probinson] comment: Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. THe resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. synonym: "Kidney stones" EXACT [] synonym: "Renal calculi" EXACT [] synonym: "Renal stones" EXACT [] xref: MeSH:D053040 "Nephrolithiasis" xref: UMLS:C0392525 "Nephrolithiasis" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000789 name: Infertility xref: MeSH:D007246 "Infertility" xref: UMLS:C0021359 "Infertility" is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000790 name: Hematuria def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] xref: MeSH:D006417 "Hematuria" xref: UMLS:C0221752 "hematuria" is_a: HP:0012211 ! Abnormal renal physiology is_a: HP:0012614 ! Abnormal urine cytology [Term] id: HP:0000791 name: Uric acid nephrolithiasis def: "The presence of uric acid-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Uric acid urolithiasis" EXACT [] xref: UMLS:C0403719 "Uric acid urolithiasis" is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000793 name: Membranoproliferative glomerulonephritis def: "Proliferation of mesangial cells, increase in the mesangial extracellular matrix, and a thickening of the glomerular capillary walls." [Eurenomics:fschaefer, MeSH:D015432] xref: MeSH:D015432 "Glomerulonephritis, Membranoproliferative" xref: UMLS:C0017662 "Glomerulonephritis, Membranoproliferative" is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000794 name: IgA deposition in the glomerulus def: "The presence of immunoglobulin A deposits in the glomerulus." [Eurenomics:ewuehl] synonym: "IgA nephropathy" RELATED [] xref: UMLS:C0017661 "Nephropathy, IGA" is_a: HP:0000095 ! Abnormality of the glomerulus [Term] id: HP:0000795 name: Abnormality of the urethra def: "An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:probinson] xref: UMLS:C0041969 "Urethral disorder" is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0010936 ! Abnormality of the lower urinary tract property_value: HP:0040005 "An abnormality of the `urethra` (FMA:19667), i.e., of the tube which connects the urinary bladder to the outside of the body." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000796 name: Urethral obstruction def: "Obstruction of the flow of urine through the urethra." [HPO:probinson] xref: MeSH:D014524 "Urethral Obstruction" xref: UMLS:C0041972 "Urethral Obstruction" is_a: HP:0000795 ! Abnormality of the urethra property_value: HP:0040005 "Obstruction of the flow of urine through the `urethra` (FMA:19667)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000798 name: Oligospermia def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [HPO:probinson] xref: MeSH:D009845 "Oligospermia" xref: UMLS:C0868910 "Oligospermia" is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000799 name: Renal steatosis def: "Abnormal fat accumulation in the kidneys." [HPO:probinson] synonym: "Fatty kidney" EXACT [] is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000800 name: Cystic renal dysplasia alt_id: HP:0008737 synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] xref: UMLS:C1842693 "Cystic renal dysplasia" is_a: HP:0000107 ! Renal cyst [Term] id: HP:0000802 name: Impotence def: "Inability to develop or maintain an erection of the penis." [HPO:probinson] synonym: "Erectile dysfunction" EXACT [] xref: UMLS:C2187990 "impotence" is_a: HP:0012874 ! Abnormal male reproductive system physiology is_a: HP:0100639 ! Erectile abnormalities [Term] id: HP:0000803 name: Renal cortical cysts def: "Cysts of the cortex of the kidney." [Eurenomics:fschaefer] synonym: "Cortical cysts" EXACT [] synonym: "Venal cortical cysts" EXACT [] xref: UMLS:C1969144 "Cortical cysts" is_a: HP:0000107 ! Renal cyst is_a: HP:0011035 ! Abnormality of the renal cortex property_value: HP:0040005 "Cysts of the `cortex of the kidney` (FMA:15581)." xsd:string {xref="Eurenomics:fschaefer"} [Term] id: HP:0000804 name: Xanthine nephrolithiasis def: "The presence of xanthine-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Urinary xanthine stones" EXACT [] synonym: "Xanthine stones" EXACT [] xref: UMLS:C1848431 "Xanthine stones" is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000805 name: Enuresis def: "Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible." [HPO:sdoelken] xref: MeSH:D004775 "Enuresis" xref: UMLS:C0014394 "Enuresis" is_a: HP:0000009 ! Functional abnormality of the bladder property_value: HP:0040005 "Lack of the ability to control the urinary bladder leading to involuntary `urination` (GO:0060073) at an age where control of the bladder should already be possible." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0000807 name: Glandular hypospadias xref: UMLS:C0452168 "Hypospadias, glandular" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000808 name: Penoscrotal hypospadias def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:probinson] xref: UMLS:C0452147 "Hypospadias, penoscrotal" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000809 name: Urinary tract atresia def: "Congenital absence of the normal opening of a structure of the urinary tract." [HPO:probinson] is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2008-02-27T04:07:00Z [Term] id: HP:0000811 name: Abnormal external genitalia is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0000812 name: Abnormal internal genitalia def: "An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male)." [HPO:probinson] is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0000813 name: Bicornuate uterus alt_id: HP:0008735 def: "The presence of a bicornuate uterus." [HPO:probinson] comment: Uterus with two horn-shaped branches. xref: UMLS:C0266387 "Bicornuate uterus" is_a: HP:0000130 ! Abnormality of the uterus property_value: HP:0040005 "The presence of a `bicornuate` (PATO:0002161) `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism alt_id: HP:0008679 def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] synonym: "Hypergonadotrophic hypogonadism" EXACT [] synonym: "Primary hypogonadism" EXACT [] xref: UMLS:C1415538 "hypergonadotropic hypogonadism" is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000816 name: Abnormality of Krebs cycle metabolism def: "An abnormality of the tricarboxylic acid cycle." [HPO:probinson] synonym: "Abnormality of citric acid cycle" EXACT [HPO:curators] synonym: "Abnormality of the tricarboxylic cycle" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality of the `tricarboxylic acid cycle` (GO:0006099)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T12:58:00Z [Term] id: HP:0000817 name: Poor eye contact def: "Difficulty in looking at another person in the eye." [HPO:probinson] comment: Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. xref: UMLS:C1445953 "Poor eye contact" is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000818 name: Abnormality of the endocrine system def: "Ab abnormality of the endocrine system." [HPO:probinson] comment: The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. synonym: "Endocrine system disease" RELATED [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "Ab abnormality of the `endocrine system` (FMA:9668)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000819 name: Diabetes mellitus alt_id: HP:0004908 alt_id: HP:0008217 alt_id: HP:0008234 alt_id: HP:0008260 def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [HPO:probinson] xref: MeSH:D003920 "Diabetes mellitus" is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000820 name: Abnormality of the thyroid gland def: "An abnormality of the thyroid gland." [HPO:probinson] synonym: "Thyroid abnormality" EXACT [] synonym: "Thyroid disease" EXACT [] xref: MeSH:D013959 "Diseases, Thyroid" xref: UMLS:C2186538 "thyroid disease" is_a: HP:0000818 ! Abnormality of the endocrine system property_value: HP:0040005 "An abnormality of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000821 name: Hypothyroidism alt_id: HP:0003222 alt_id: HP:0008203 def: "Deficiency of thyroid hormone." [HPO:probinson] synonym: "Low T4" EXACT [] xref: MeSH:D007037 "Hypothyroidism" xref: UMLS:C0020676 "Hypothyroidism" is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000822 name: Hypertension alt_id: HP:0004949 alt_id: HP:0005126 def: "The presence of chronic increased pressure in the systemic arterial system." [HPO:probinson] comment: Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. synonym: "Elevated blood pressure" RELATED [] synonym: "Increased blood pressure" RELATED [] synonym: "Systemic hypertension" EXACT [] xref: MeSH:D006973 "Hypertension" xref: UMLS:C0020538 "Hypertension" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology property_value: HP:0040005 "The presence of `chronic` (PATO:0001863) `increased pressure` (PATO:0001576) in the `systemic arterial system` (FMA:45623)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000823 name: Delayed puberty alt_id: HP:0008859 alt_id: HP:0010466 alt_id: HP:0010467 def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] comment: The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy. synonym: "Delalyed puberty" EXACT [] synonym: "Delayed pubertal development" EXACT [] synonym: "Delayed pubertal growth" EXACT [] synonym: "Delayed puberty (female)" EXACT [] synonym: "Delayed puberty (male)" EXACT [] xref: MeSH:D011628 "Puberty, Delayed" xref: UMLS:C0034012 "Delayed Puberty" is_a: HP:0001510 ! Growth delay is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000824 name: Growth hormone deficiency alt_id: HP:0000861 alt_id: HP:0008195 alt_id: HP:0008206 def: "Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism." [HPO:probinson] comment: The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults. xref: MeSH:D004393 "Dwarfism, Pituitary" xref: UMLS:C0013338 "growth hormone deficiency" xref: UMLS:C0271563 "Isolated growth hormone deficiency" is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0000825 name: Hyperinsulinemic hypoglycemia def: "An increased concentration of insulin combined with a decreased concentration of glucose in the blood." [HPO:probinson] comment: Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar. synonym: "Hyperinsulinaemic hypoglycaemia" EXACT [] synonym: "Hyperinsulinemia hypoglycemia" EXACT [] xref: UMLS:C1864903 "Hyperinsulinemic hypoglycemia" is_a: HP:0000842 ! Hyperinsulinemia property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) combined with a `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000826 name: Precocious puberty def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:probinson] xref: MeSH:D011629 "Puberty, Precocious" xref: UMLS:C0034013 "Precocious Puberty" is_a: HP:0100000 ! Early onset of sexual maturation [Term] id: HP:0000828 name: Abnormality of the parathyroid gland def: "An abnormality of the parathyroid gland." [HPO:curators] comment: There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. synonym: "Parathyroid disease" RELATED [] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: HP:0040005 "An abnormality of the `parathyroid gland` (FMA:13890)." xsd:string {xref="HPO:curators"} [Term] id: HP:0000829 name: Hypoparathyroidism alt_id: HP:0000856 alt_id: HP:0008292 def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [HPO:probinson] synonym: "Low parathyroid hormone" EXACT [] xref: MeSH:D007011 "Hypoparathyroidism" xref: UMLS:C1384672 "hypoparathyroidism" is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000830 name: Anterior hypopituitarism def: "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [HPO:probinson] xref: UMLS:C0020635 "Pituitary deficiency" is_a: HP:0040075 ! Hypopituitarism [Term] id: HP:0000831 name: Insulin-resistant diabetes mellitus def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels." [HPO:probinson, pmid:7706500] synonym: "Insulin resistant diabetes" EXACT [] synonym: "Insulin resistant diabetes mellitus" EXACT [] synonym: "Insulin-resistant diabetes" EXACT [] xref: UMLS:C0743125 "Insulin resistant diabetes mellitus" is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0000855 ! Insulin resistance [Term] id: HP:0000832 name: Primary hypothyroidism def: "A type of hypothyroidism that results from a defect in the thyroid gland." [HPO:probinson] xref: UMLS:C0700502 "Primary hypothyroidism" is_a: HP:0000821 ! Hypothyroidism property_value: HP:0040005 "A type of `hypothyroidism` (HP:0000821) that results from a defect in the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000833 name: Glucose intolerance synonym: "Impaired glucose tolerance" EXACT [] xref: MeSH:D018149 "Glucose Intolerance" xref: UMLS:C0271650 "Glucose Intolerance" is_a: HP:0001952 ! Abnormal glucose tolerance [Term] id: HP:0000834 name: Abnormality of the adrenal glands def: "Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys." [HPO:probinson] synonym: "Adrenal abnormalities" EXACT [] synonym: "Adrenal gland disease" RELATED [] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: HP:0040005 "Abnormality of the `adrenal glands` (FMA:9604), i.e., of the endocrine glands located at the top of the kindneys." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000835 name: Adrenal hypoplasia def: "Developmental hypoplasia of the adrenal glands." [HPO:probinson] synonym: "Adrenal gland hypoplasia" EXACT [] synonym: "Hypoplastic adrenal glands" EXACT [] synonym: "Small adrenal glands" EXACT [] xref: UMLS:C0220766 "Adrenal hypoplasia" is_a: HP:0011732 ! Abnormality of adrenal morphology property_value: HP:0040005 "Developmental hypoplasia of the `adrenal glands` (FMA:9604)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000836 name: Hyperthyroidism alt_id: HP:0008241 def: "An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3)." [HPO:probinson] xref: MeSH:D006980 "Hyperthyroidism" xref: UMLS:C0020550 "Hyperthyroidism" is_a: HP:0002926 ! Abnormality of thyroid physiology property_value: HP:0040005 "An `abnormality of thyroid physiology (`HP:0002926) characterized by refers to excessive secretion of the thyroid hormones `thyroxine` (CHEBI:30660) (i.e., T4) and/or `3,3',5-triiodo-L-thyronine zwitterion` (CHEBI:533015) (i.e., triiodothyronine or T3)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000837 name: Gonadotropin excess def: "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [DDD:spark] synonym: "Elevated gonadotropins" EXACT [] synonym: "Elevated serum gonadotropins" EXACT [] xref: UMLS:C1862265 "Elevated gonadotropins" is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000839 name: Pituitary dwarfism def: "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [HPO:probinson] xref: MeSH:D004393 "Dwarfism, Pituitary" xref: UMLS:C0013338 "growth hormone deficiency" is_a: HP:0000824 ! Growth hormone deficiency is_a: HP:0004322 ! Short stature [Term] id: HP:0000840 name: Adrenogenital syndrome alt_id: HP:0001921 def: "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [HPO:probinson] xref: MeSH:D047808 "Adrenogenital Syndrome" xref: UMLS:C0302280 "Adrenogenital Syndrome" is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000841 name: Hyperactive renin-angiotensin system def: "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [HPO:probinson] comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. synonym: "INCREASED PLASMA RENIN ACTIVITY" RELATED [HPO:skoehler] xref: UMLS:C1846345 "Hyperactive renin-angiotensin system" is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000842 name: Hyperinsulinemia def: "An increased concentration of insulin in the blood." [HPO:probinson] synonym: "Elevated insulin level" EXACT [] xref: MeSH:D006946 "Hyperinsulinism" xref: UMLS:C0020459 "Hyperinsulinaemia" is_a: HP:0003117 ! Abnormality of circulating hormone level is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000843 name: Hyperparathyroidism def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [HPO:probinson] xref: MeSH:D006961 "Hyperparathyroidism" xref: UMLS:C0020502 "Hyperparathyroidism" is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000845 name: Growth hormone excess alt_id: HP:0008856 def: "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [DDD:spark, HPO:probinson] comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH). synonym: "Acral hypertrophy" EXACT [] synonym: "Acromegalic growth" EXACT [] synonym: "Acromegaly" EXACT [] xref: MeSH:D000172 "Acromegaly" xref: UMLS:C0001206 "Acromegaly" is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000846 name: Adrenal insufficiency alt_id: HP:0000865 alt_id: HP:0008218 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [HPO:probinson, pmid:11443143] comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. synonym: "Hypoadrenalism" EXACT [] xref: MeSH:D000309 "Adrenal Insufficiency" xref: UMLS:C0001623 "Adrenal Insufficiency" xref: UMLS:C0405580 "Adrenal Insufficiency" is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0000847 name: Abnormality of renin-angiotensin system alt_id: HP:0003350 def: "An abnormality of the renin-angiotensin system." [HPO:probinson] comment: The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. synonym: "Abnormality of the renin-aldosterone axis" EXACT [] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: HP:0040005 "An abnormality of the `renin-angiotensin system` (FMA:74787)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000848 name: Increased circulating renin level alt_id: HP:0003615 def: "An increased level of renin (PRO:000013883) in the blood." [HPO:probinson] synonym: "Elevated plasma renin" EXACT [] synonym: "Hyperreninemia" EXACT [] synonym: "Increased plasma renin" EXACT [] synonym: "Increased serum renin" EXACT [] xref: UMLS:C1846346 "Increased plasma renin" is_a: HP:0000847 ! Abnormality of renin-angiotensin system property_value: HP:0040005 "An increased level of renin (PRO:000013883) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000849 name: Adrenocortical abnormality is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0000851 name: Congenital hypothyroidism def: "A type of hypothyroidism with congenital onset." [HPO:probinson] synonym: "Hypothyroidism, congenital" EXACT [] xref: MeSH:D003409 "Congenital Hypothyroidism" is_a: HP:0000821 ! Hypothyroidism property_value: HP:0040005 "A type of `hypothyroidism` (HP:0000821) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000852 name: Pseudohypoparathyroidism def: "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [HPO:probinson] xref: MeSH:D011547 "Pseudohypoparathyroidism" xref: UMLS:C0033806 "Pseudohypoparathyroidism" is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000853 name: Goiter def: "An enlargement of the thyroid gland." [HPO:probinson] synonym: "Goitre" EXACT [] xref: MeSH:D006042 "Goiter" xref: UMLS:C0018021 "GOITRE" is_a: HP:0011772 ! Abnormality of thyroid morphology property_value: HP:0040005 "An enlargement of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000854 name: Thyroid adenoma def: "The presence of a adenoma of the thyroid gland." [HPO:probinson] xref: UMLS:C0151468 "Thyroid Adenoma" is_a: HP:0100031 ! Neoplasm of the thyroid gland property_value: HP:0040005 "The presence of a `adenoma` (MPATH:270) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000855 name: Insulin resistance def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] xref: MeSH:D007333 "Insulin Resistance" xref: UMLS:C0021655 "Insulin Resistance" is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: HP:0040005 "`Increased resistance` (PATO:0001650) towards `insulin` (PRO:000009054), that is, diminished effectiveness of insulin in reducing blood glucose levels." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000858 name: Menstrual irregularities synonym: "Menstrual irregularity" EXACT [] xref: UMLS:C0156404 "Irregularities, menstrual" is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000859 name: Hyperaldosteronism alt_id: HP:0004318 alt_id: HP:0005975 def: "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [DDD:spark, HPO:probinson] synonym: "Elevated plasma aldosterone" EXACT [] synonym: "Increased aldosterone" EXACT [] synonym: "Increased aldosterone production" EXACT [] synonym: "Mineralocorticoid excess" EXACT [] xref: MeSH:D006929 "Hyperaldosteronism" xref: UMLS:C0020428 "Hyperaldosteronism" xref: UMLS:C0857641 "Increased plasma aldosterone" is_a: HP:0002717 ! Adrenal overactivity [Term] id: HP:0000860 name: Parathyroid hypoplasia def: "Developmental hypoplasia of the parathyroid gland." [HPO:probinson] xref: UMLS:C1389851 "Parathyroid hypoplasia" is_a: HP:0011768 ! Parathyroid dysgenesis property_value: HP:0040005 "Developmental hypoplasia of the `parathyroid gland` (FMA:13890)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000863 name: Central diabetes insipidus alt_id: HP:0008210 def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators] synonym: "Neurohypophyseal diabetes insipidus" EXACT [] xref: MeSH:D020790 "Diabetes Insipidus, Neurogenic" xref: UMLS:C0687720 "Diabetes Insipidus, Neurohypophyseal" is_a: HP:0000873 ! Diabetes insipidus is_a: HP:0011751 ! Abnormality of the posterior pituitary [Term] id: HP:0000864 name: Abnormality of the hypothalamus-pituitary axis alt_id: HP:0000838 alt_id: HP:0000844 def: "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [DDD:spark] is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000866 name: Euthyroid multinodular goiter xref: UMLS:C1846034 "Euthyroid multinodular goiter" is_a: HP:0009798 ! Euthyroid goiter [Term] id: HP:0000867 name: Secondary hyperparathyroidism def: "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [HPO:probinson, pmid:19836494] comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. xref: MeSH:D006962 "Hyperparathyroidism, Secondary" xref: UMLS:C0020503 "Hyperparathyroidism, Secondary" is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0000868 name: Decreased fertility in females synonym: "Reduced fertility in females" EXACT [] is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000869 name: Secondary amenorrhea xref: UMLS:C0232940 "Secondary amenorrhea" is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000870 name: Prolactin excess def: "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [DDD:spark, HPO:probinson] synonym: "Hyperprolactinaemia" EXACT [] synonym: "Hyperprolactinemia" EXACT [] xref: MeSH:D006966 "Hyperprolactinemia" xref: UMLS:C0020514 "Hyperprolactinemia" is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000871 name: Panhypopituitarism def: "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [HPO:probinson, pmid:12466332] xref: UMLS:C0342376 "PANHYPOPITUITARISM" is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0000872 name: Hashimoto thyroiditis def: "A chronic, autoimmune type of thyroiditis associated with hypothyroidism." [HPO:probinson] synonym: "Chronic lymphocytic thyroiditis" EXACT [] synonym: "Hashimoto's thyroiditis" EXACT [] xref: MeSH:D050031 "Hashimoto Disease" xref: UMLS:C0677607 "Hashimoto Thyroiditis" is_a: HP:0002960 ! Autoimmunity is_a: HP:0100646 ! Thyroiditis property_value: HP:0040005 "A chronic, autoimmune type of `thyroiditis` (HP:0100646) associated with `hypothyroidism` (HP:0000821)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000873 name: Diabetes insipidus def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] xref: MeSH:D003919 "Diabetes insipidus" xref: UMLS:C0011848 "Diabetes Insipidus" is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000875 name: Episodic hypertension xref: UMLS:C1857175 "Hypertension, episodic" is_a: HP:0000822 ! Hypertension [Term] id: HP:0000876 name: Oligomenorrhea def: "Infrequent menses (less than 6 per year or more than 35 days between cycles)." [HPO:probinson, pmid:22594864] xref: MeSH:D009839 "Oligomenorrhea" xref: UMLS:C2057730 "oligomenorrhea" is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000877 name: Insulin-resistant diabetes mellitus at puberty is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000878 name: 11 pairs of ribs def: "Presence of only 11 pairs of ribs." [HPO:probinson] comment: Normally, there are 12 pairs of ribs. subset: hposlim_core is_a: HP:0000921 ! Missing ribs [Term] id: HP:0000879 name: Short sternum def: "Decreased inferosuperior length of the sternum." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic sternum" RELATED [] xref: UMLS:C0575497 "Short sternum" is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0000882 name: Hypoplastic scapulae alt_id: HP:0000906 alt_id: HP:0006616 def: "Underdeveloped scapula." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic scapula" EXACT [] synonym: "Scapular hypoplasia" EXACT [] synonym: "Short scapulae" EXACT [] synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] xref: SNOMEDCT:298759002 "Small scapula" xref: UMLS:C0575530 "Small scapula" xref: UMLS:C1843669 "Hypoplastic scapulae" is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae property_value: HP:0040005 "Underdeveloped `scapula` (FMA:13394)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000883 name: Thin ribs def: "Ribs with a reduced diameter." [HPO:probinson] subset: hposlim_core synonym: "Slender ribs" EXACT [] xref: SNOMEDCT:249697003 "Thin rib" xref: UMLS:C0426818 "Thin ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000884 name: Prominent sternum synonym: "Sternal protrusion" EXACT [] xref: UMLS:C1846152 "Prominent sternum" is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000885 name: Broad ribs alt_id: HP:0000903 alt_id: HP:0000950 alt_id: HP:0006667 def: "Increased width of ribs." [HPO:probinson] subset: hposlim_core synonym: "Wide ribs" EXACT [] xref: UMLS:C1848654 "Broad ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000886 name: Deformed rib cage def: "Malformation of the rib cage." [HPO:probinson] xref: UMLS:C1838659 "Deformed rib cage" is_a: HP:0001547 ! Abnormality of the rib cage property_value: HP:0040005 "Malformation of the `rib cage` (FMA:7480)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000887 name: Cupped ribs alt_id: HP:0006635 def: "Wide, concave rib end." [HPO:probinson] subset: hposlim_core synonym: "Rib cupping" EXACT [] synonym: "Rib flaring" RELATED [] xref: UMLS:C1865039 "Cupped ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000888 name: Horizontal ribs def: "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12." [HPO:probinson] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000889 name: Abnormality of the clavicles def: "Any abnormality of the clavicles (collar bones)." [HPO:probinson] subset: hposlim_core synonym: "ABNORMAL CLAVICLES" EXACT [] is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000890 name: Long clavicles alt_id: HP:0006592 def: "Increased length of the clavicles." [HPO:probinson] synonym: "Elongated clavicles" EXACT [] xref: UMLS:C0426808 "Long clavicles" is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000891 name: Cervical ribs def: "A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra." [HPO:probinson, MeSH:D057070] subset: hposlim_core xref: MeSH:D057070 "Cervical rib" xref: SNOMEDCT:72535009 "Cervical rib" xref: UMLS:C0158779 "Cervical ribs" is_a: HP:0005815 ! Supernumerary ribs [Term] id: HP:0000892 name: Bifid ribs def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [HPO:curators] xref: UMLS:C0265695 "Rib fusion" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000893 name: Bulging of the costochondral junction def: "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage." [HPO:probinson] comment: The costochondral junction is the structure where the ribs articulate with the sternum. is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000894 name: Short clavicles alt_id: HP:0000898 alt_id: HP:0005698 alt_id: HP:0005902 def: "Reduced length of the clavicles." [HPO:probinson] subset: hposlim_core synonym: "Clavicular hypoplasia" EXACT [] synonym: "Hypoplastic clavicles" EXACT [] synonym: "Underdeveloped clavicles" EXACT [] xref: UMLS:C0426799 "Hypoplastic clavicles" xref: UMLS:C0426807 "Short clavicles" is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0000895 name: Hooked clavicles def: "An excessive upward convexity of the lateral clavicle." [HPO:probinson, pmid:7322653] synonym: "Hook-shaped clavicles" EXACT [] synonym: "Lateral clavicle hook" EXACT [] xref: UMLS:C0426805 "Hooked clavicles" is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000896 name: Rib exostoses def: "Multiple circumscribed bony excrescences located in the ribs." [HPO:probinson] xref: UMLS:C1835579 "Rib exostoses" is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0100777 ! Exostoses [Term] id: HP:0000897 name: Rachitic rosary def: "A row of beadlike prominences at the junction of a rib and its cartilage, resembling a rosary." [HPO:probinson] xref: UMLS:C0426824 "Rachitic rosary" is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000900 name: Thickened ribs def: "Increased thickness (diameter) of ribs." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:249699000 "Thick rib" xref: UMLS:C1854820 "Thickened ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000902 name: Rib fusion alt_id: HP:0000880 def: "Complete or partial merging of adjacent ribs." [HPO:probinson] synonym: "Fused ribs" EXACT [] xref: UMLS:C0265695 "Rib fusion" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000904 name: Flaring of rib cage alt_id: HP:0006656 def: "The presence of wide, concave anterior rib ends." [HPO:curators] synonym: "Anterior flaring of ribs" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000905 name: Progressive clavicular acroosteolysis def: "Progressive bone resorption in the distal part of the clavicle." [HPO:probinson] synonym: "Progressive acroosteolysis of the clavicle" EXACT [] is_a: HP:0000889 ! Abnormality of the clavicles is_a: HP:0002797 ! Osteolysis [Term] id: HP:0000907 name: Anterior rib cupping alt_id: HP:0006601 def: "Wide, concave anterior rib end." [HPO:probinson] synonym: "Anterior cupping of ribs" EXACT [] synonym: "Anteriorly splayed ribs" EXACT [] xref: UMLS:C1866708 "Anteriorly splayed ribs" is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000910 name: Wide-cupped costochondral junctions xref: UMLS:C1861213 "Wide-cupped costochondral junctions" is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000911 name: Flat glenoid fossa def: "Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson, pmid:15163819] comment: See pmid:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. xref: UMLS:C1855177 "Flat glenoid fossa" is_a: HP:0011912 ! Abnormality of the glenoid fossa property_value: HP:0040005 "Abnormally flat configuration of the `glenoid fossa` (FMA:23275), also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." xsd:string {xref="HPO:probinson", xref="pmid:15163819"} [Term] id: HP:0000912 name: Sprengel anomaly alt_id: HP:0006621 def: "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)." [HPO:probinson] comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. subset: hposlim_core synonym: "Congenital, upward displacement of the scapula" EXACT [] synonym: "Sprengel deformity" EXACT [] xref: MEDRA:10010455 "Congenital elevation of scapula" xref: UMLS:C0152438 "Sprengel deformity" xref: UMLS:C1860355 "Sprengel anomaly" is_a: HP:0000782 ! Abnormality of the scapula [Term] id: HP:0000913 name: Posterior rib fusion def: "Complete or partial merging of the posterior part of adjacent ribs." [HPO:probinson] xref: UMLS:C1842084 "Posterior rib fusion" is_a: HP:0000902 ! Rib fusion [Term] id: HP:0000914 name: Shield chest def: "A broad chest." [HPO:probinson, pmid:22368597] comment: Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome. synonym: "Broad chest" RELATED [] xref: UMLS:C1834124 "Shield chest" is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0000915 name: Pectus excavatum of inferior sternum def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [HPO:probinson] synonym: "Pectus excavatum inferiorly" EXACT [] xref: UMLS:C1864796 "Pectus excavatum inferiorly" is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0000916 name: Broad clavicles alt_id: HP:0006651 def: "Increased width (cross-sectional diameter) of the clavicles." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:249680009 "Broad clavicle" xref: UMLS:C0426801 "Broad clavicles" is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000917 name: Superior pectus carinatum def: "Pectus carinatum affecting primarily the superior part of the sternum." [HPO:curators] synonym: "Pectus carinatum superiorly" EXACT [] xref: UMLS:C1864795 "Pectus carinatum superiorly" is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0000918 name: Scapular exostoses def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage." [HPO:probinson] synonym: "Scapulae exostoses" EXACT [] xref: UMLS:C1851415 "Scapular exostoses" is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0100777 ! Exostoses [Term] id: HP:0000919 name: Abnormality of the costochondral junction def: "Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Costochondral juctions abnormal" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs property_value: HP:0040005 "Any anomaly of the `costochondral junction` (FMA:7956). The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000920 name: Enlargement of the costochondral junction alt_id: HP:0006620 def: "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] subset: hposlim_core synonym: "Costochondral thickening" EXACT [] synonym: "Enlarged costochondral junctions" EXACT [] synonym: "Prominent costochondral junction" EXACT [] synonym: "Wide costochondral junctions" EXACT [] synonym: "Widened costochondral junction" EXACT [] xref: UMLS:C1861322 "Prominent costochondral junction" is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000921 name: Missing ribs alt_id: HP:0000881 alt_id: HP:0006627 def: "A developmental anomaly with absence of one or more ribs." [HPO:probinson] subset: hposlim_core synonym: "Absent ribs" EXACT [] synonym: "Decreased rib number" EXACT [] xref: UMLS:C0426816 "Missing ribs" is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000922 name: Posterior rib cupping alt_id: HP:0006622 def: "Wide, concave posterior rib end." [HPO:probinson] synonym: "Anterior and posterior rib cupping" EXACT [] is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000923 name: Beaded ribs def: "The presence of a row of beadlike prominences at the junction of a rib and its cartilag." [HPO:curators] comment: Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children. xref: UMLS:C0426824 "Rachitic rosary" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000924 name: Abnormality of the skeletal system def: "An abnormality of the skeletal system." [HPO:probinson] synonym: "Skeletal abnormalities" EXACT [] synonym: "Skeletal anomalies" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `skeletal system` (FMA:23881)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000925 name: Abnormality of the vertebral column def: "Any abnormality of the vertebral column." [HPO:probinson] subset: hposlim_core synonym: "Abnormal spine" EXACT [HPO:skoehler] synonym: "Abnormal vertebral column" EXACT [] synonym: "Abnormality of the backbone" RELATED [] synonym: "Abnormality of the spine" EXACT [] is_a: HP:0009121 ! Abnormal axial skeleton morphology property_value: HP:0040005 "Any abnormality of the `vertebral column` (FMA:13478)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000926 name: Platyspondyly alt_id: HP:0002940 alt_id: HP:0004595 alt_id: HP:0004623 alt_id: HP:0004627 alt_id: HP:0005123 alt_id: HP:0005644 alt_id: HP:0008466 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates." [HPO:probinson] subset: hposlim_core synonym: "Flat vertebral bodies" EXACT [] synonym: "Flattened vertebrae" EXACT [] synonym: "Flattened vertebral bodies" EXACT [] xref: SNOMEDCT:7603007 "Platyspondylia" xref: UMLS:C0265679 "Platyspondylia" xref: UMLS:C1865023 "Platyspondyly" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0000927 name: Abnormality of skeletal maturation def: "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [HPO:probinson] is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0000929 name: Abnormality of the skull def: "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson] is_a: HP:0000234 ! Abnormality of the head is_a: HP:0009121 ! Abnormal axial skeleton morphology property_value: HP:0040005 "An abnormality of the `skull` (FMA:46565), the bony framework of the head which is comprised of eight cranial and fourteen facial bones." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000931 name: Thinning and bulging of the posterior fossa bones synonym: "Thinning and bulging of posterior fossa bones" EXACT [] is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0000932 name: Abnormality of the posterior cranial fossa alt_id: HP:0007306 def: "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [HPO:curators] comment: This finding can be demonstrated by cerebral magnetic resonance imaging or computer tomography. synonym: "Abnormality of the posterior fossa" EXACT [] synonym: "Posterior fossa anomaly" EXACT [] is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000933 name: Posterior fossa cyst at the fourth ventricle is_a: HP:0007109 ! Periventricular cysts is_a: HP:0007291 ! Posterior fossa cyst [Term] id: HP:0000934 name: Chondrocalcinosis def: "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [HPO:sdoelken] xref: MeSH:D002805 "Chondrocalcinosis" xref: UMLS:C0553730 "Chondrocalcinosis" is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0010766 ! Ectopic calcification is_a: HP:0100685 ! Abnormality of Sharpey fibers [Term] id: HP:0000935 name: Thickened cortex of long bones def: "Abnormal thickening of the cortex of long bones." [HPO:curators] synonym: "Broad cortex of long bones" EXACT [] synonym: "Cortical thickening of the long bones" EXACT [] synonym: "Thickened cortices of long bones" EXACT [] is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0000938 name: Osteopenia alt_id: HP:0002768 alt_id: HP:0002799 alt_id: HP:0002800 def: "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:probinson] synonym: "Decreased bone mineral density" EXACT [] synonym: "Generalized osteopenia" EXACT [] xref: MeSH:D001851 "Osteopenia" xref: UMLS:C1968854 "Decreased bone mineral density" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000939 name: Osteoporosis alt_id: HP:0002774 def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] synonym: "Generalized osteoporosis" EXACT [] xref: MeSH:D010024 "Osteoporosis" xref: UMLS:C0029456 "Osteoporosis" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000940 name: Abnormal diaphysis morphology def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [HPO:probinson] synonym: "Abnormality of the diaphyses" EXACT [] is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000941 name: Short diaphyses is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0000943 name: Dysostosis multiplex alt_id: HP:0002760 xref: UMLS:C0086795 "Dysostosis multiplex" is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0000944 name: Abnormality of the metaphyses alt_id: HP:0006506 def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [HPO:probinson] is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000945 name: Flared irregular metaphyses alt_id: HP:0005055 synonym: "Flared and irregular metaphyses" EXACT [] synonym: "Irregular, flared metaphyses" EXACT [] synonym: "Metaphyseal flaring and irregularity" EXACT [] is_a: HP:0003015 ! Flared metaphyses [Term] id: HP:0000946 name: Hypoplastic ilia alt_id: HP:0003176 alt_id: HP:0003178 def: "Underdevelopment of the ilium." [HPO:probinson] synonym: "Short and small iliac bones" EXACT [] synonym: "Small iliac bones" EXACT [] xref: UMLS:C1846800 "Hypoplastic ilia" is_a: HP:0002867 ! Abnormality of the ilium property_value: HP:0040005 "Underdevelopment of the `ilium` (FMA:16589)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000947 name: Dumbbell-shaped long bone alt_id: HP:0005061 alt_id: HP:0005071 alt_id: HP:0005075 def: "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] synonym: "Dumbbell widening of long bone metaphyses" EXACT [] is_a: HP:0003016 ! Metaphyseal widening is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000951 name: Abnormality of the skin alt_id: HP:0001478 alt_id: HP:0001479 alt_id: HP:0005591 alt_id: HP:0006736 alt_id: HP:0007415 alt_id: HP:0007580 def: "An abnormality of the skin." [HPO:probinson] subset: hposlim_core synonym: "dermatopathy" EXACT [HPO:skoehler] synonym: "dermopathy" EXACT [HPO:skoehler] synonym: "Skin abnormality" RELATED [] xref: UMLS:C0037268 "Skin Abnormalities" is_a: HP:0001574 ! Abnormality of the integument property_value: HP:0040005 "An abnormality of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] xref: MeSH:D007565 "Jaundice" xref: UMLS:C0022346 "Jaundice" is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0001396 ! Cholestasis [Term] id: HP:0000953 name: Hyperpigmentation of the skin alt_id: HP:0007527 def: "A darkening of the skin related to an increase in melanin production and deposition." [HPO:probinson] synonym: "Cutaneous hyperpigmentation" EXACT [] synonym: "Increased skin pigmentation" EXACT [] synonym: "Skin hyperpigmentation" EXACT [] is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000954 name: Single transverse palmar crease alt_id: HP:0006214 def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, pmid:19125433] comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present). subset: hposlim_core synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] xref: UMLS:C1865130 "Transverse palmar creases" is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0000956 name: Acanthosis nigricans alt_id: HP:0007498 alt_id: HP:0007518 alt_id: HP:0007591 def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [DDD:cmoss, pmid:19061584] comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. subset: secondary_consequence xref: MeSH:D000052 "Acanthosis Nigricans" xref: UMLS:C0000889 "Acanthosis Nigricans" xref: UMLS:C0343059 "Benign acanthosis nigricans" is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000957 name: Cafe-au-lait spot alt_id: HP:0005601 alt_id: HP:0007454 def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [HPO:probinson] comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. synonym: "Cafe au lait spots" EXACT [] synonym: "Cafe-au-lait macules" EXACT [] synonym: "CAFE-AU-LAIT SPOTS" RELATED [HPO:skoehler] xref: MeSH:D019080 "Cafe-au-Lait Spots" xref: UMLS:C0221263 "Cafe-au-Lait Spots" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000958 name: Dry skin def: "Skin characterized by the lack of natural or normal moisture." [HPO:probinson] subset: hposlim_core synonym: "Xerosis" EXACT [] xref: MEDRA:10048222 "Xerosis" xref: UMLS:C0151908 "Dry skin" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0000960 name: Sacral dimple def: "A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] subset: hposlim_core synonym: "Pilonidal dimple" EXACT [] xref: SNOMEDCT:311897005 "Sacral dimple" xref: UMLS:C0426848 "Sacral dimple" is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0010781 ! Skin dimples property_value: HP:0040005 "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000961 name: Cyanosis def: "A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule." [MeSH:D003490] xref: MeSH:D003490 "Cyanosis" xref: UMLS:C0010520 "Cyanosis" is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0000962 name: Hyperkeratosis alt_id: HP:0007523 def: "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:probinson] subset: hposlim_core xref: MEDRA:10020649 "Hyperkeratosis" xref: SNOMEDCT:26996000 "Hyperkeratosis" xref: UMLS:C0870082 "Hyperkeratosis" is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000963 name: Thin skin alt_id: HP:0001020 def: "Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:277797007 "Thin skin" xref: UMLS:C0423757 "Thin skin" is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0000964 name: Eczema alt_id: HP:0001481 def: "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:probinson] synonym: "Dermatitis" EXACT [] xref: MeSH:D004485 "Eczema" xref: UMLS:C0013595 "Eczema" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000965 name: Cutis marmorata alt_id: HP:0001037 def: "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather." [HPO:sdoelken] subset: hposlim_core synonym: "Livedo reticularis" EXACT [] xref: MeSH:D054068 "Livedo Reticularis" xref: SNOMEDCT:314176007 "Skin marbling" xref: UMLS:C0263401 "Cutis marmorata" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0000966 name: Hypohidrosis alt_id: HP:0007551 alt_id: HP:0007571 def: "Abnormally diminished capacity to sweat." [HPO:probinson] subset: hposlim_core synonym: "Decreased ability to sweat" EXACT [] synonym: "Decreased sweating" EXACT [] synonym: "Oligohidrosis" EXACT [] xref: MEDRA:10021013 "Hypohidrosis" xref: MeSH:D007007 "Hypohidrosis" xref: SNOMEDCT:45004005 "Hypohidrosis" xref: UMLS:C0020620 "Hypohidrosis" is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000967 name: Petechiae def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [HPO:probinson] subset: hposlim_core xref: MEDRA:10034754 "Petechiae" xref: SNOMEDCT:50091001 "Petechia" xref: UMLS:C0031256 "Petechiae" is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000968 name: Ectodermal dysplasia alt_id: HP:0007615 def: "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [HPO:probinson] comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. xref: MeSH:D004476 "Ectodermal Dysplasia" xref: UMLS:C0013575 "Ectodermal Dysplasia" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000969 name: Edema alt_id: HP:0000990 def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:probinson] comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] xref: MeSH:D004487 "Edema" xref: UMLS:C0013604 "Edema" is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0000970 name: Anhidrosis def: "Inability to sweat." [HPO:probinson] subset: hposlim_core xref: MEDRA:10002512 "Anhidrosis" xref: SNOMEDCT:39659002 "Anhidrosis" xref: UMLS:C0003028 "ANHYDROSIS" is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0000971 name: Abnormality of the sweat gland def: "An abnormality of the sweat gland." [HPO:probinson] synonym: "ABNORMALITIES OF SWEATING" RELATED [HPO:skoehler] synonym: "Sweat gland disease" RELATED [] is_a: HP:0011138 ! Abnormality of skin adnexa property_value: HP:0040005 "An abnormality of the `sweat gland` (FMA:59152)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000972 name: Palmoplantar hyperkeratosis def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot." [HPO:probinson] subset: hposlim_core synonym: "Hyperkeratosis of palms and soles" EXACT [] synonym: "Hyperkeratosis of the palms and soles" EXACT [] synonym: "Palmoplantar keratoses" EXACT [] synonym: "Palmoplantar keratosis" EXACT [] synonym: "Thick palms and soles" EXACT [] synonym: "Thickened palms and soles" EXACT [] xref: UMLS:C1857046 "Palmoplantar hyperkeratosis" is_a: HP:0007556 ! Plantar hyperkeratosis is_a: HP:0010765 ! Palmar hyperkeratosis is_a: HP:0100871 ! Abnormality of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: HP:0040005 "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000973 name: Cutis laxa def: "Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson] synonym: "Lax skin" EXACT [] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] xref: MeSH:D003483 "Cutis Laxa" xref: UMLS:C0010495 "Dermatochalasis" is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000974 name: Hyperextensible skin alt_id: HP:0007389 alt_id: HP:0007493 alt_id: HP:0007578 def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [HPO:sdoelken] comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. subset: hposlim_core synonym: "Hyperelastic skin" EXACT [] synonym: "Skin hyperelasticity" EXACT [] synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT [] xref: UMLS:C1844593 "Hyperextensible skin" is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis alt_id: HP:0001064 alt_id: HP:0007424 def: "Abnormal excessive perspiration (sweating)." [HPO:probinson] subset: hposlim_core synonym: "Diaphoresis" EXACT [] synonym: "Increased sweating" EXACT [] synonym: "Sweating" EXACT [] xref: MEDRA:10020642 "Hyperhidrosis" xref: MeSH:D006945 "Hyperhidrosis" xref: SNOMEDCT:312230002 "Hyperhidrosis" xref: UMLS:C0020458 "Hyperhidrosis" xref: UMLS:C0700590 "Diaphoresis" is_a: HP:0007550 ! Hypohidrosis or hyperhidrosis [Term] id: HP:0000976 name: Eczematoid dermatitis xref: UMLS:C0013595 "Eczema" is_a: HP:0000964 ! Eczema [Term] id: HP:0000977 name: Soft skin def: "Subjective impression of increased softness upon palpitation of the skin." [HPO:probinson] subset: hposlim_core synonym: "Velvety skin" RELATED [] synonym: "VELVETY SKIN TEXTURE" RELATED [HPO:skoehler] xref: UMLS:C1844592 "Soft skin" is_a: HP:0010647 ! Abnormal elasticity of skin [Term] id: HP:0000978 name: Bruising susceptibility alt_id: HP:0000959 alt_id: HP:0007433 alt_id: HP:0007472 def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] comment: An ecchymosis is defined as being larger than 1 cm in size. synonym: "Bruisability" EXACT [] synonym: "Easy bruisability" EXACT [] synonym: "Easy bruising" EXACT [] synonym: "Ecchymoses" RELATED [] xref: UMLS:C0013491 "Ecchymoses" is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000979 name: Purpura def: "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [HPO:probinson] subset: hposlim_core xref: MeSH:D011693 "Purpura" xref: SNOMEDCT:423902002 "Purpura" xref: UMLS:C0034150 "Purpura" is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor def: "Abnormally pale skin." [HPO:probinson] synonym: "Paleness" RELATED [] xref: MeSH:D010167 "Pallor" xref: UMLS:C0030232 "Pallor" is_a: HP:0011121 ! Abnormality of skin morphology property_value: HP:0040005 "Abnormally `pale` (PATO:0000328) `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0000982 name: Palmoplantar keratoderma def: "Abnormal thickening of the skin of the palms of the hands and the soles of the feet." [HPO:probinson] synonym: "Palmar and plantar keratoderma" EXACT [] xref: MeSH:D007645 "Palmoplantar Keratoderma" is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000987 name: Atypical scarring of skin def: "Atypically scarred skin ." [HPO:sdoelken] synonym: "Atypical scarring" EXACT [] is_a: HP:0011354 ! Generalized abnormality of skin is_a: HP:0100699 ! Scarring property_value: HP:0040005 "Atypically `scarred` (PATO:0001850) `skin` (FMA:7163) ." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0000988 name: Skin rash def: "A red eruption of the skin." [HPO:probinson] synonym: "Exanthem" EXACT [] xref: MEDRA:10037844 "Rash" xref: SNOMEDCT:112625008 "Cutaneous eruption" xref: UMLS:C0015230 "Eruption" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000989 name: Pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:probinson] subset: hposlim_core xref: MeSH:D011537 "Pruritus" xref: SNOMEDCT:418363000 "Itching of skin" xref: UMLS:C0033774 "Pruritus" is_a: HP:0011122 ! Abnormality of skin physiology [Term] id: HP:0000991 name: Xanthomatosis def: "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators] synonym: "Xanthomata" EXACT [] xref: MeSH:D014973 "Xanthomatosis" xref: UMLS:C0043325 "Xanthomatosis" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000992 name: Cutaneous photosensitivity alt_id: HP:0005594 alt_id: HP:0006831 alt_id: HP:0007538 def: "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:probinson] subset: hposlim_core synonym: "Photosensitive skin" EXACT [] synonym: "Photosensitive skin rashes" EXACT [] synonym: "Photosensitivity" EXACT [] synonym: "Skin photosensitivity" EXACT [] synonym: "Sun sensitivity" EXACT [] xref: SNOMEDCT:90128006 "Photosensitivity" xref: UMLS:C0349506 "Photosensitivity" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000993 name: Molluscoid pseudotumors def: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [HPO:probinson] synonym: "Molluscoid pseudotumor" EXACT [] xref: UMLS:C1844597 "Molluscoid pseudotumors" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000995 name: Melanocytic nevus def: "A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger." [HPO:probinson] comment: Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime. synonym: "Melanocytic naevus" EXACT [] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] synonym: "Pigmented naevi" EXACT [] synonym: "Pigmented nevi" EXACT [] xref: MeSH:D009508 "Nevus, Pigmented" is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0003764 ! Nevus [Term] id: HP:0000996 name: Facial capillary hemangioma xref: UMLS:C1858545 "Facial capillary hemangioma" is_a: HP:0000329 ! Facial hemangioma is_a: HP:0005306 ! Capillary hemangiomas [Term] id: HP:0000997 name: Axillary freckling def: "The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [pmid:12186179] subset: hposlim_core xref: UMLS:C1860335 "Axillary freckling" is_a: HP:0001480 ! Freckling [Term] id: HP:0000998 name: Hypertrichosis def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:probinson] xref: MeSH:D006983 "Hypertrichosis" xref: UMLS:C0020555 "Hypertrichosis" is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [HPO:probinson] comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. xref: MeSH:D011711 "Pyoderma" xref: UMLS:C0034212 "Pyoderma" is_a: HP:0005406 ! Recurrent bacterial skin infections [Term] id: HP:0001000 name: Abnormality of skin pigmentation alt_id: HP:0007582 alt_id: HP:0200045 def: "An abnormality of the pigmentation of the skin." [HPO:probinson] subset: hposlim_core synonym: "Abnormal pigmentation" EXACT [] synonym: "Abnormal skin pigmentation" EXACT [HPO:skoehler] synonym: "Abnormality of pigmentation" EXACT [] synonym: "Pigmentary changes" EXACT [] synonym: "Pigmentary skin changes" EXACT [] synonym: "Pigmentation anomaly" EXACT [] xref: UMLS:C1260926 "Abnormal pigmentation" xref: UMLS:C1269684 "Skin pigmentation - finding" is_a: HP:0011121 ! Abnormality of skin morphology property_value: HP:0040005 "An abnormality of the `pigmentation` (GO:0043473) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001001 name: Abnormality of subcutaneous fat tissue is_a: HP:0009124 ! Abnormality of adipose tissue is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001002 name: Decreased subcutaneous fat synonym: "Little subcutaneous fat" EXACT [] synonym: "Sparse subcutaneous fat" EXACT [] synonym: "Subcutaneous fat loss" EXACT [] xref: UMLS:C1835128 "Decreased subcutaneous fat" is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0001003 name: Multiple lentigines def: "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots." [HPO:probinson] comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. subset: hposlim_core xref: UMLS:C1328931 "Multiple lentigines" is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0001004 name: Lymphedema alt_id: HP:0003605 def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system." [HPO:sdoelken] synonym: "Lymphoedema" EXACT [] synonym: "Onset of lymphedema around puberty" EXACT [] xref: MeSH:D008209 "Lymphedema" xref: UMLS:C0024236 "LYMPHOEDEMA" is_a: HP:0000969 ! Edema property_value: HP:0040005 "Localized fluid retention and tissue swelling caused by a compromised `lymphatic system` (FMA:7162)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0001005 name: Dermatological manifestations of systemic disorders subset: secondary_consequence is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001006 name: Hypotrichosis alt_id: HP:0002551 alt_id: HP:0004525 alt_id: HP:0004874 def: "Congenital lack of hair growth." [HPO:probinson] comment: Unlike alopecia, which describes hair loss where formerly there was hair growth, hypotrichosis describes a situation where there wasn't any hair growth in the first place. subset: hposlim_core synonym: "Congenital hypotrichosis" EXACT [] synonym: "Hypotrichosis, infantile" EXACT [] synonym: "Marked hypotrichosis" EXACT [] xref: MEDRA:10021126 "Hypotrichosis" xref: MeSH:D007039 "Hypotrichosis" xref: SNOMEDCT:53602002 "Hypotrichosis" xref: UMLS:C0020678 "Hypotrichosis" is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001007 name: Hirsutism def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [HPO:sdoelken] xref: MeSH:D006628 "Hirsutism" xref: UMLS:C0019572 "Hirsutism" is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001008 name: Accumulation of melanosomes in melanocytes is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0001009 name: Telangiectasia alt_id: HP:0001079 def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [HPO:probinson] synonym: "Cutaneous telangiectasia" EXACT [] synonym: "Telangiectases" EXACT [] xref: MeSH:D013684 "Telangiectasis" xref: UMLS:C1963248 "Telangiectasia" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001010 name: Hypopigmentation of the skin alt_id: HP:0005589 alt_id: HP:0007604 alt_id: HP:0007622 def: "A reduction of skin color related to a decrease in melanin production and deposition." [HPO:probinson] synonym: "Hypopigmentation" EXACT [] synonym: "Hypopigmented skin" EXACT [] synonym: "Skin hypopigmentation" RELATED [] xref: MeSH:D017496 "Hypopigmentation" xref: UMLS:C1844614 "Mild localized pigmentation abnormalities" xref: UMLS:C1876214 "HYPOPIGMENTATION" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001011 name: Diaphoresis (with pheochromocytoma) subset: secondary_consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001012 name: Multiple lipomas def: "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:sdoelken] comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. synonym: "Lipomas" RELATED [] is_a: HP:0012031 ! Lipomatous tumor [Term] id: HP:0001013 name: Eruptive xanthomas def: "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [pmid:12165227, pmid:22375975] comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. xref: UMLS:C0221252 "Eruptive xanthomas" is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001014 name: Angiokeratoma def: "A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [HPO:probinson, pmid:8993949] synonym: "Angiokeratomas" EXACT [] xref: MeSH:D000794 "Angiokeratoma" xref: UMLS:C0002985 "Angiokeratomas" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001015 name: Prominent superficial veins xref: UMLS:C1837785 "Prominent superficial veins" is_a: HP:0002624 ! Venous abnormality is_a: HP:0007394 ! Prominent superficial blood vessels [Term] id: HP:0001017 name: Anemic pallor def: "A type of pallor that is secondary to the presence of anemia." [HPO:probinson] is_a: HP:0000980 ! Pallor property_value: HP:0040005 "A type of `pallor` (HP:0000980) that is secondary to the presence of `anemia` (HP:0001903)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001018 name: Abnormal palmar dermatoglyphics def: "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand." [HPO:probinson] is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0100871 ! Abnormality of the palm property_value: HP:0040005 "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the `skin of palm of hand` (FMA:38301)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001019 name: Erythroderma def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] synonym: "Generalized erythroderma" EXACT [] synonym: "Generalized erythrodermia" EXACT [] xref: UMLS:C1863723 "Generalized erythrodermia" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001022 name: Albinism def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [HPO:sdoelken] xref: MeSH:D000417 "Albinism" xref: UMLS:C0001916 "Albinism" is_a: HP:0005599 ! Hypopigmentation of hair is_a: HP:0007513 ! Generalized hypopigmentation [Term] id: HP:0001024 name: Skin dimple over apex of long bone angulation is_a: HP:0010781 ! Skin dimples [Term] id: HP:0001025 name: Urticaria def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [HPO:probinson] subset: hposlim_core synonym: "Hives" EXACT [] xref: MEDRA:10046735 "Urticaria" xref: MeSH:D014581 "Urticaria" xref: SNOMEDCT:64305001 "Urticaria" xref: UMLS:C0042109 "Urticaria" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001026 name: Penetrating foot ulcers is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001027 name: Soft, doughy skin xref: UMLS:C1844592 "Soft skin" is_a: HP:0000977 ! Soft skin [Term] id: HP:0001028 name: Hemangioma alt_id: HP:0007444 def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:probinson] synonym: "Hemangiomata" RELATED [] xref: MeSH:D006391 "Hemangioma" is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100742 ! Vascular neoplasm [Term] id: HP:0001029 name: Poikiloderma def: "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [HPO:probinson] comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. subset: hposlim_core xref: MEDRA:10057041 "Poikiloderma" xref: SNOMEDCT:70114006 "Poikiloderma" xref: UMLS:C0392777 "Poikiloderma" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001030 name: Fragile skin def: "Skin that splits easily with minimal injury." [HPO:probinson] subset: hposlim_core synonym: "Skin fragility" EXACT [] xref: MEDRA:10040851 "Skin fragility" xref: SNOMEDCT:247427007 "Fragile skin" xref: UMLS:C0241181 "Fragile skin" xref: UMLS:C0549419 "Skin fragility" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001031 name: Subcutaneous lipoma def: "The presence of subcutaneous lipoma." [HPO:probinson] xref: UMLS:C1403035 "Subcutaneous lipomas" is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0001012 ! Multiple lipomas is_a: HP:0008069 ! Neoplasm of the skin property_value: HP:0040005 "The presence of subcutaneous `lipoma` (MPATH:417)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001032 name: Absent distal interphalangeal creases def: "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] synonym: "Absence of skin creases over distal interphalangeal joints" EXACT [] synonym: "Aplasia of the distal interphalangeal creases" EXACT [] synonym: "Distal finger flexion creases absent" EXACT [] xref: UMLS:C1861349 "Absent distal interphalangeal creases" is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0001033 name: Facial flushing after alcohol intake subset: secondary_consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001034 name: Hypermelanotic macule alt_id: HP:0007442 alt_id: HP:0007491 alt_id: HP:0007492 alt_id: HP:0100815 alt_id: HP:0200031 alt_id: HP:0200033 def: "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [DDD:cmoss] synonym: "Hyperpigmented macules" EXACT [] synonym: "Hyperpigmented skin patches" EXACT [] synonym: "Hyperpigmented spots" EXACT [] xref: UMLS:C1842774 "Hyperpigmented macules" is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0012733 ! Macule [Term] id: HP:0001036 name: Parakeratosis def: "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes." [HPO:probinson] comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. xref: MeSH:D010241 "Parakeratosis" xref: UMLS:C0030436 "Parakeratosis" is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0001038 name: Warfarin-induced skin necrosis subset: secondary_consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001039 name: Atheroeruptive xanthoma xref: UMLS:C0302314 "Xanthoma" is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001040 name: Multiple pterygia xref: UMLS:C1867448 "Pterygia, multiple" is_a: HP:0001059 ! Pterygium [Term] id: HP:0001041 name: Facial erythema alt_id: HP:0001068 def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] synonym: "Ruddy face" RELATED [] xref: UMLS:C0239488 "FACIAL ERYTHEMA" is_a: HP:0010783 ! Erythema [Term] id: HP:0001042 name: High axial triradius is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0001043 name: Prominent scalp veins xref: UMLS:C1856542 "Prominent scalp veins" is_a: HP:0001015 ! Prominent superficial veins is_a: HP:0001965 ! Abnormality of the scalp [Term] id: HP:0001045 name: Vitiligo xref: MeSH:D014820 "Vitiligo" xref: UMLS:C0042900 "Vitiligo" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001046 name: Intermittent jaundice def: "Jaundice that is sometimes present, sometimes not." [HPO:curators] subset: secondary_consequence is_a: HP:0000952 ! Jaundice [Term] id: HP:0001047 name: Atopic dermatitis alt_id: HP:0007533 alt_id: HP:0007564 def: "A chronic inflammatory genetically determined disease of the skin manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee." [HPO:probinson] comment: In infants, atopic dermatitis is known as infantile eczema. synonym: "Atopic dermatitis, chronic" EXACT [] synonym: "Dermatitis, Atopic" EXACT [] xref: MeSH:D003876 "Dermatitis, Atopic" xref: UMLS:C0011615 "Dermatitis, Atopic" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001048 name: Cavernous hemangioma def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:probinson] subset: hposlim_core synonym: "Cavernous haemangioma" EXACT [] xref: MEDRA:10055899 "Haemangioma cavernous" xref: MeSH:D006392 "Hemangioma, Cavernous" xref: SNOMEDCT:33377007 "Cavernous hemangioma" xref: UMLS:C0018920 "Cavernous Hemangiomas" is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001049 name: Absent dorsal skin creases over affected joints is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0001050 name: Plethora comment: Related to polycythemia. xref: UMLS:C0232370 "Plethora" is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001051 name: Seborrheic dermatitis alt_id: HP:0007562 def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] comment: Dandruff. synonym: "Dysseborrheic dermatitis" RELATED [] synonym: "Seborrhea" EXACT [] synonym: "Seborrheic eczema" EXACT [] xref: MeSH:D012628 "Dermatitis, Seborrheic" xref: UMLS:C0036508 "Seborrheic dermatitis" is_a: HP:0000964 ! Eczema [Term] id: HP:0001052 name: Nevus flammeus def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] subset: hposlim_core synonym: "port-wine stain" EXACT [HPO:SKOEHLER] xref: MEDRA:10067193 "Naevus flammeus" xref: UMLS:C0235752 "Naevus flammeus" is_a: HP:0003764 ! Nevus is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0001053 name: Hypopigmented skin patches is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001054 name: Numerous nevi synonym: "Multiple pigmented nevi" EXACT [] xref: UMLS:C1836894 "Numerous nevi" is_a: HP:0003764 ! Nevus is_a: HP:0010566 ! Hamartoma [Term] id: HP:0001055 name: Erysipelas def: "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system." [HPO:probinson] subset: hposlim_core synonym: "St. Anthony's Fire" RELATED [] xref: MEDRA:10015145 "Erysipelas" xref: MeSH:D004886 "Erysipelas" xref: SNOMEDCT:44653001 "Erysipelas" xref: UMLS:C0014733 "Erysipelas" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001056 name: Milia def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [HPO:probinson] comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. subset: hposlim_core xref: SNOMEDCT:254679001 "Milia" xref: UMLS:C0345996 "Milia" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001057 name: Aplasia cutis congenita def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:probinson] subset: hposlim_core xref: MEDRA:10002963 "Aplasia cutis congenita" xref: SNOMEDCT:35484002 "Aplasia cutis congenita" xref: UMLS:C0282160 "Aplasia Cutis Congenita" is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0001058 name: Poor wound healing def: "A reduced ability to heal cutaneous wounds." [HPO:probinson] subset: hposlim_core xref: UMLS:C1851789 "Poor wound healing" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001059 name: Pterygium def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:probinson] synonym: "Pterygia" RELATED [] xref: SNOMEDCT:77489003 "Pterygium" xref: UMLS:C0033999 "Pterygium" is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0001060 name: Axillary pterygia xref: UMLS:C1844738 "Axillary pterygia" is_a: HP:0001059 ! Pterygium [Term] id: HP:0001061 name: Acne alt_id: HP:0005596 def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [HPO:probinson] subset: hposlim_core xref: MEDRA:10000496 "Acne" xref: SNOMEDCT:11381005 "Acne" xref: UMLS:C0702166 "Acne" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001062 name: Atypical nevi (>5mm with irregular edge and pigmentation) is_a: HP:0003764 ! Nevus [Term] id: HP:0001063 name: Acrocyanosis xref: UMLS:C0221347 "Acrocyanosis" is_a: HP:0000961 ! Cyanosis [Term] id: HP:0001065 name: Striae distensae alt_id: HP:0001023 alt_id: HP:0001066 alt_id: HP:0100680 def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:probinson] subset: hposlim_core synonym: "Purplish striae" EXACT [] synonym: "Stretch marks" RELATED [] synonym: "Striae" EXACT [] synonym: "Striae atrophicae" EXACT [] synonym: "Striae cutis distensae" EXACT [] xref: MEDRA:10040925 "Skin striae" xref: MeSH:D057896 "Striae Distensae" xref: SNOMEDCT:201066002 "Skin striae" xref: UMLS:C1963160 "Striae" is_a: HP:0004334 ! Dermal atrophy is_a: HP:0100679 ! Lack of skin elasticity [Term] id: HP:0001067 name: Neurofibromas alt_id: HP:0006746 alt_id: HP:0007386 alt_id: HP:0007612 def: "The presence of multiple cutaneous neurofibromas." [HPO:probinson] synonym: "multiple neurofibromas" RELATED [] synonym: "Neurofibromata" EXACT [] synonym: "Neurofibromatosis" EXACT [] xref: UMLS:C0027830 "Neurofibromas" is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010614 ! Fibroma is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0001069 name: Episodic hyperhidrosis def: "Intermittent episodes of abnormally increased perspiration." [HPO:probinson] synonym: "Hyperhidrosis, episodic" EXACT [] is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0001070 name: Mottled pigmentation alt_id: HP:0007584 def: "Patchy and irregular skin pigmentation." [HPO:probinson] synonym: "Stippled pigmentation" RELATED [] xref: UMLS:C0860439 "Mottled pigmentation" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum xref: UMLS:C0002986 "Angiokeratoma Corporis Diffusum" is_a: HP:0001014 ! Angiokeratoma [Term] id: HP:0001072 name: Thickened skin alt_id: HP:0007393 def: "Laminar thickening of skin." [HPO:sdoelken] subset: hposlim_core synonym: "Diffusely thickened skin" RELATED [] synonym: "Pachydermia" EXACT [] xref: MEDRA:10040936 "Skin thickening" xref: UMLS:C0241165 "Thickened skin" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001073 name: Cigarette-paper scars def: "Thin (atrophic) and wide scars." [HPO:probinson] comment: Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows. subset: hposlim_core synonym: "'cigarette paper scarring'" EXACT [] synonym: "Cigarette paper scarring" EXACT [] xref: UMLS:C1851828 "'Cigarette paper scarring'" is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0001074 name: Atypical nevi in non-sun exposed areas is_a: HP:0003764 ! Nevus [Term] id: HP:0001075 name: Atrophic scars alt_id: HP:0007567 def: "Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin." [HPO:probinson] subset: hposlim_core synonym: "Thin, atrophic scars" EXACT [] xref: SNOMEDCT:409766009 "Atrophic scar" xref: UMLS:C0162154 "Atrophic scars" is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0001076 name: Glabellar hemangioma synonym: "Glabellar capillary hemangioma" EXACT [] xref: UMLS:C1857261 "Glabellar hemangioma" is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001080 name: Biliary tract abnormality def: "An abnormality of the biliary tree." [HPO:probinson] synonym: "Biliary tract disease" RELATED [] xref: UMLS:C0549613 "BILIARY TRACT ABNORMALITY" is_a: HP:0004297 ! Abnormality of the biliary system property_value: HP:0040005 "An abnormality of the `biliary tree` (FMA:14665)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001081 name: Cholelithiasis def: "Hard, pebble-like deposits that form within the gallbladder." [HPO:probinson] comment: Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones. synonym: "Gallstones" EXACT [] xref: MeSH:D002769 "Cholelithiasis" xref: UMLS:C0947622 "CHOLELITHIASIS" is_a: HP:0012437 ! Abnormal gallbladder morphology property_value: HP:0040005 "Hard, pebble-like deposits that form within the `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001082 name: Cholecystitis def: "The presence of inflammatory changes in the gallbladder." [HPO:probinson] xref: MeSH:D002764 "Cholecystitis" xref: UMLS:C1963083 "Cholecystitis" is_a: HP:0012438 ! Abnormal gallbladder physiology property_value: HP:0040005 "The presence of `inflammatory` (PATO:0002104) changes in the `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001083 name: Ectopia lentis alt_id: HP:0000665 alt_id: HP:0007637 alt_id: HP:0007882 alt_id: HP:0008016 def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of lens position" EXACT [] synonym: "Dislocated lens" EXACT [] synonym: "Dislocated lenses" EXACT [] synonym: "Lens dislocation" EXACT [] xref: MeSH:D004479 "Ectopia lentis" xref: UMLS:C0013581 "Ectopia Lentis" xref: UMLS:C0023309 "Lens dislocation" is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0001084 name: Corneal arcus alt_id: HP:0100741 def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [HPO:curators] comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. synonym: "Anterior embryotoxon" EXACT [] synonym: "Arcus juvenilis" RELATED [] synonym: "Arcus lipoidis" EXACT [] synonym: "Arcus senilis" EXACT [] synonym: "Corneal annulus" EXACT [] synonym: "Gerontoxon" EXACT [] xref: MeSH:D001112 "Arcus Senilis" xref: UMLS:C0003742 "Corneal Arcus" is_a: HP:0008011 ! Peripheral opacification of the cornea [Term] id: HP:0001085 name: Papilledema alt_id: HP:0001130 def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:probinson] comment: The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc. subset: hposlim_core xref: MeSH:D010211 "Papilledema" xref: UMLS:C0155288 "Papilledema" is_a: HP:0012795 ! Abnormality of the optic disc [Term] id: HP:0001087 name: Congenital glaucoma xref: UMLS:C0020302 "Congenital glaucoma" is_a: HP:0000501 ! Glaucoma [Term] id: HP:0001088 name: Brushfield spots def: "The presence of whitish spots in a ring-like arrangement at the periphery of the iris." [HPO:probinson] comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). subset: hposlim_core synonym: "Iris brushfield spots" EXACT [] xref: UMLS:C1303007 "Brushfield spots" is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001089 name: Iris atrophy def: "Atrophy of the iris." [HPO:probinson] xref: UMLS:C0423319 "Iris atrophy, NOS" is_a: HP:0000525 ! Abnormality of the iris property_value: HP:0040005 "Atrophy of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001090 name: Large eyes alt_id: HP:0200093 def: "Increased size of the ocular globe (eyeball)." [HPO:probinson] xref: UMLS:C1855852 "Large eyes" is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0001092 name: Absent lacrimal punctum alt_id: HP:0007977 def: "No identifiable superior and/or inferior lacrimal punctum." [pmid:19125427] comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. subset: hposlim_core synonym: "Absent lacrimal gland puncta" EXACT [] synonym: "Absent lacrimal openings" EXACT [] synonym: "Absent lacrimal puncta" EXACT [] synonym: "Agenesis of the lacrimal punctum" RELATED [] synonym: "Aplasia of lacrimal puncta" EXACT [] synonym: "Lacrimal puncta aplasia" EXACT [] synonym: "Lacrimal punctum, absence" EXACT [] xref: UMLS:C1851881 "Absent lacrimal puncta" is_a: HP:0011479 ! Abnormality of the lacrimal punctum [Term] id: HP:0001093 name: Optic nerve dysplasia def: "The presence of developmental dysplasia of the optic nerve." [HPO:probinson] is_a: HP:0000587 ! Abnormality of the optic nerve property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `optic nerve` (FMA:50863)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001094 name: Iridocyclitis def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [HPO:probinson] xref: MeSH:D015863 "Iridocyclitis" xref: UMLS:C0022073 "Iridocyclitis" is_a: HP:0012122 ! Anterior uveitis [Term] id: HP:0001095 name: Hypertensive retinopathy subset: secondary_consequence xref: MeSH:D058437 "Hypertensive Retinopathy" xref: UMLS:C0152132 "Hypertensive Retinopathy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001096 name: Keratoconjunctivitis def: "Inflammation of the cornea and conjunctiva." [HPO:probinson] subset: hposlim_core xref: MeSH:D007637 "Keratoconjunctivitis" xref: UMLS:C0022573 "Keratoconjunctivitis" is_a: HP:0000491 ! Keratitis is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0001097 name: Keratoconjunctivitis sicca def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:probinson] subset: hposlim_core synonym: "Dry eye syndrome" RELATED [] synonym: "Keratitis sicca" EXACT [] synonym: "Xerophthalmia" EXACT [] xref: MeSH:D007638 "Keratoconjunctivitis Sicca" xref: UMLS:C0553844 "keratoconjunctivitis sicca" is_a: HP:0001096 ! Keratoconjunctivitis [Term] id: HP:0001098 name: Abnormality of the fundus is_a: HP:0004329 ! Abnormality of the posterior segment of the eye [Term] id: HP:0001099 name: Fundus atrophy is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001100 name: Heterochromia iridis def: "Heterochromia iridis is a difference in the color of the iris in the two eyes." [HPO:probinson] subset: hposlim_core synonym: "Heterochromia irides" EXACT [] xref: UMLS:C0423318 "heterochromia" is_a: HP:0008034 ! Abnormal iris pigmentation property_value: HP:0040005 "Heterochromia iridis is a difference in the color of the `iris` (FMA:58235) in the two eyes." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001101 name: Iritis def: "Inflammation of the iris." [HPO:probinson] xref: MeSH:D007500 "Iritis" xref: UMLS:C0022081 "Iritis" is_a: HP:0000525 ! Abnormality of the iris property_value: HP:0040005 "Inflammation of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001102 name: Angioid streaks of the retina def: "Bilateral, narrow, irregular lines inferior to the retina and emanating in a radiating fashion from the optic disc." [HPO:probinson] comment: Angioid streaks result from breaks in a weakened Bruch's membrane. synonym: "Angioid streaks" EXACT [] synonym: "Angioid streaks, retina" EXACT [] xref: MeSH:D000793 "Angioid streaks" xref: UMLS:C0002982 "Angioid Streaks" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001103 name: Abnormality of the macula def: "An abnormality of the macula lutea is an oval-shaped highly pigmented yellow spot near the center of the retina." [HPO:probinson] subset: hposlim_core synonym: "Macula abnormality" EXACT [] synonym: "Macular abnormality" EXACT [] xref: UMLS:C0730362 "Macula abnormality" is_a: HP:0000479 ! Abnormality of the retina property_value: HP:0040005 "An abnormality of the `macula lutea` (FMA:58637) is an oval-shaped highly pigmented yellow spot near the center of the retina." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001104 name: Macular hypoplasia def: "Underdevelopment of the macula lutea." [HPO:probinson] subset: hposlim_core xref: UMLS:C1849412 "Macular hypoplasia" is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula property_value: HP:0040005 "Underdevelopment of the `macula lutea` (FMA:58637)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001105 name: Retinal atrophy xref: UMLS:C0521694 "Retinal atrophy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001106 name: Periorbital hyperpigmentation def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [HPO:probinson] xref: UMLS:C1844606 "Periorbital hyperpigmentation" is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001107 name: Ocular albinism alt_id: HP:0007745 alt_id: HP:0007837 def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina." [HPO:probinson] comment: Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia. synonym: "Albinism, Ocular" EXACT [] xref: MeSH:D016117 "Albinism, Ocular" xref: UMLS:C0078917 "Albinism, Ocular" is_a: HP:0001098 ! Abnormality of the fundus is_a: HP:0007730 ! Iris hypopigmentation property_value: HP:0040005 "An abnormal reduction in the amount of pigmentation (reduced or absent) of the `iris` (FMA:58235) and retina." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001112 name: Leber optic atrophy alt_id: HP:0001086 def: "Degeneration of retinal ganglion cells and their axons." [HPO:probinson] synonym: "Leber optic atrophy features" EXACT [] xref: UMLS:C0917796 "Leber Optic Atrophy" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001113 name: obsolete Early cataracts xref: UMLS:C1835120 "Early cataracts" is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0001114 name: Xanthelasma def: "The presence of xanthomata in the skin of the eyelid." [HPO:curators] xref: UMLS:C0302314 "Xanthoma" is_a: HP:0000991 ! Xanthomatosis is_a: HP:0010604 ! Cyst of the eyelid [Term] id: HP:0001115 name: Posterior polar cataract def: "A polar cataract that affects the posterior pole of the lens." [HPO:probinson] xref: UMLS:C1861837 "Posterior polar cataract" is_a: HP:0010696 ! Polar cataract property_value: HP:0040005 "A `polar cataract` (HP:0010696) that affects the `posterior pole of the lens` (FMA:58898)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001116 name: Macular coloboma def: "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects." [DDD:gblack] xref: UMLS:C1857620 "Macular coloboma" is_a: HP:0000480 ! Retinal coloboma is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0001117 name: Sudden central visual loss is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001118 name: Juvenile cataract def: "A type of cataract that is not apparent at birth but that arises in childhood or adolescence." [HPO:probinson] comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). xref: UMLS:C0302254 "Juvenile cataract" is_a: HP:0000518 ! Cataract [Term] id: HP:0001119 name: Keratoglobus def: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [pmid:19667340] subset: hposlim_core xref: UMLS:C0344530 "Keratoglobus" is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0001120 name: Abnormality of corneal size def: "Any abnormality of the size or morphology of the cornea." [HPO:curators] is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001122 name: Aplasia/Hypoplasia of the choroid def: "Absence or underdevelopment of the choroid." [HPO:probinson] is_a: HP:0000610 ! Abnormality of the choroid is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus property_value: HP:0040005 "Absence or underdevelopment of the `choroid` (FMA:58298)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T03:23:00Z [Term] id: HP:0001123 name: Visual field defect synonym: "VISUAL FIELD DEFECTS" EXACT [HPO:skoehler] xref: UMLS:C0036454 "Visual field defects NOS" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0001125 name: Hemianopic blurring of vision alt_id: HP:0000583 def: "Transient hemianopsia associated with the aura phase of migraine." [HPO:probinson] comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Hemianopic blurring" RELATED [] synonym: "Hemianoptic blurring of vision" EXACT [] is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001126 name: Cryptophthalmos alt_id: HP:0008032 def: "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [HPO:curators, pmid:19125427] comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. subset: hposlim_core xref: UMLS:C0311249 "Cryptophthalmos" is_a: HP:0100886 ! Abnormality of globe location is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0001128 name: Trichiasis def: "Inversion and rubbing of the eyelashes against the globe of the eye." [HPO:curators] comment: Eyelash inversion. synonym: "Trichiasis of eyelid eyelashes" EXACT [] xref: MeSH:D058457 "Trichiasis" xref: UMLS:C0221259 "Trichiasis" is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0001129 name: Large central visual field defect is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001131 name: Corneal dystrophy alt_id: HP:0007775 def: "An abnormality of the cornea that is characterized by opacity of one or parts of the cornea." [HPO:probinson] subset: hposlim_core xref: UMLS:C0010036 "Corneal dystrophy" is_a: HP:0000481 ! Abnormality of the cornea property_value: HP:0040005 "An `abnormality of the cornea` (HP:0000481) that is characterized by opacity of one or parts of the cornea." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001132 name: Lens subluxation def: "Partial dislocation of the lens of the eye." [HPO:probinson] comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). xref: MeSH:D007906 "Lens Subluxation" xref: UMLS:C0023316 "Lens Subluxation" is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0001133 name: Constricted visual fields alt_id: HP:0007887 synonym: "Depressed visual field" EXACT [] synonym: "Reduced visual fields" EXACT [] synonym: "Visual field constriction" EXACT [] xref: UMLS:C1849268 "Reduced visual fields" is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001134 name: Anterior polar cataract def: "A polar cataract that affects the anterior pole of the lens." [HPO:probinson] xref: UMLS:C1855179 "CATARACT, ANTERIOR POLAR" is_a: HP:0010696 ! Polar cataract property_value: HP:0040005 "A `polar cataract` (HP:0010696) that affects the `anterior pole of the lens` (FMA:58897)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001135 name: Chorioretinal dystrophy xref: UMLS:C1857627 "Chorioretinal dystrophy" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001136 name: Retinal arteriolar tortuosity def: "The presence of an increased number of twists and turns of the retinal arterioles." [HPO:probinson] synonym: "Tortuous retinal arterioles" EXACT [] xref: UMLS:C1843517 "Retinal arteriolar tortuosity" is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0012841 ! Retinal vascular tortuosity [Term] id: HP:0001137 name: Alternating esotropia xref: UMLS:C0152205 "Alternating esotropia" is_a: HP:0000565 ! Esotropia [Term] id: HP:0001138 name: Optic neuropathy alt_id: HP:0007806 xref: UMLS:C0029132 "Optic Neuropathy" is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001139 name: Choroideremia xref: MeSH:D015794 "Choroideremia" xref: UMLS:C0008525 "Choroideraemia" is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001140 name: Epibulbar dermoid def: "An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:probinson] subset: hposlim_core synonym: "Epibulbar dermoids" RELATED [] xref: UMLS:C1867616 "Epibulbar dermoids" is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0001141 name: Severe visual impairment alt_id: HP:0007640 alt_id: HP:0007842 alt_id: HP:0007951 alt_id: HP:0008023 synonym: "Marked vision impairment" EXACT [] synonym: "Severely impaired vision" EXACT [] xref: UMLS:C1301509 "Severe visual impairment" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001142 name: Lenticonus def: "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly." [DDD:ncarter] comment: A conical projection of the anterior or posterior surface of the lens. subset: hposlim_core xref: UMLS:C0239119 "Lenticonus" is_a: HP:0011526 ! Abnormality of lens shape [Term] id: HP:0001144 name: Orbital cyst def: "Presence of a cyst in the region of the orbita. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium)." [HPO:probinson] synonym: "Orbital cysts" RELATED [] xref: SNOMEDCT:31021007 "Orbital cyst" xref: UMLS:C0155285 "Orbital cysts" is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0001145 name: Chorioretinopathy alt_id: HP:0007888 xref: UMLS:C0339383 "Chorioretinopathy" xref: UMLS:C1844750 "Bilateral chorioretinopathy" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001146 name: Pigmentary retinal degeneration alt_id: HP:0007934 synonym: "RETINAL EXUDATES" EXACT [HPO:skoehler] synonym: "Retinal pigmentary degeneration" EXACT [] xref: UMLS:C1833999 "Pigmentary retinal degeneration" is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0001147 name: Retinal exudate def: "Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." [HPO:probinson] comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. xref: UMLS:C0240897 "RETINAL EXUDATE" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001149 name: Lattice corneal dystrophy def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [HPO:curators] xref: UMLS:C1527170 "Lattice corneal dystrophy" is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0001150 name: Choroidal sclerosis alt_id: HP:0007884 def: "Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines." [HPO:probinson, pmid:4694397] synonym: "Choroidal vessel sclerosis" EXACT [] xref: UMLS:C0344297 "Choroidal sclerosis" is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001151 name: Impaired horizontal smooth pursuit def: "An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects." [HPO:probinson] synonym: "Impaired horizontal visual pursuit" EXACT [] xref: UMLS:C1866753 "Impaired horizontal smooth pursuit" is_a: HP:0007772 ! Impaired smooth pursuit property_value: HP:0040005 "An `abnormality of ocular smooth pursuit` (HP:0000617) characterized by an impairment of the ability to track horizontally moving objects." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001152 name: Saccadic smooth pursuit alt_id: HP:0000530 def: "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements." [HPO:probinson] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. synonym: "Saccadic pursuit movements" EXACT [] synonym: "Saccadic slow pursuit" EXACT [] xref: UMLS:C1836479 "Saccadic pursuit movements" xref: UMLS:C1853405 "Saccadic smooth pursuit" is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0001153 name: Septate vagina def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [HPO:curators] xref: UMLS:C0266411 "Septate vagina" is_a: HP:0000142 ! Abnormality of the vagina [Term] id: HP:0001155 name: Abnormality of the hand alt_id: HP:0005858 def: "An abnormality affecting one or both hands." [HPO:probinson] subset: hposlim_core synonym: "Abnormal hands" EXACT [HPO:skoehler] synonym: "Hand anomalies" EXACT [] synonym: "Hand deformities" EXACT [] xref: UMLS:C0018564 "Hand deformities" is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0001156 name: Brachydactyly syndrome alt_id: HP:0001189 alt_id: HP:0001201 alt_id: HP:0005630 alt_id: HP:0005657 alt_id: HP:0005727 alt_id: HP:0006017 alt_id: HP:0006128 alt_id: HP:0100667 def: "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely." [HPO:probinson] synonym: "BRACHYDACTYLY" EXACT [] xref: MeSH:D059327 "Brachydactyly" xref: UMLS:C1836188 "Severe brachydactyly" is_a: HP:0011927 ! Short digit [Term] id: HP:0001159 name: Syndactyly alt_id: HP:0001206 alt_id: HP:0001236 def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as \"symphalangism\"." [HPO:probinson] comment: Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. xref: MeSH:D013576 "Syndactyly" xref: UMLS:C0039075 "Syndactyly" is_a: HP:0011297 ! Abnormality of digit [Term] id: HP:0001161 name: Hand polydactyly def: "A kind of polydactyly characterized by the presence of a supernumerary finger or fingers." [HPO:probinson] subset: hposlim_core synonym: "Polydactyly (hands)" EXACT [] synonym: "Polydactyly of the hand" EXACT [] xref: MEDRA:10036064 "Polydactyly of fingers" xref: SNOMEDCT:81793007 "Polydactyly of fingers" xref: UMLS:C0158733 "Hand polydactyly" is_a: HP:0009997 ! Duplication of phalanx of hand is_a: HP:0010442 ! Polydactyly property_value: HP:0040005 "A kind of `polydactyly` (HP:0010442) characterized by the presence of a supernumerary finger or fingers." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001162 name: Postaxial hand polydactyly alt_id: HP:0004698 alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [HPO:sdoelken] subset: hposlim_core synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Polydactyly, postaxial" EXACT [] synonym: "Postaxial polydactyly (hands)" RELATED [] synonym: "Postaxial polydactyly of fingers" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] xref: UMLS:C0220697 "POLYDACTYLY, POSTAXIAL" is_a: HP:0001161 ! Hand polydactyly is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001163 name: Abnormality of the metacarpal bones def: "An abnormality of the metacarpal bones." [HPO:probinson] synonym: "Anomaly of the metacarpal bones" EXACT [] is_a: HP:0001155 ! Abnormality of the hand property_value: HP:0040005 "An abnormality of the `metacarpal bones`(FMA:71336)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001166 name: Arachnodactyly alt_id: HP:0001505 def: "Abnormally long and slender fingers (\"spider fingers\")." [HPO:probinson] synonym: "Long slender fingers" EXACT [] synonym: "Long, slender fingers" EXACT [] xref: MeSH:D054119 "Arachnodactyly" is_a: HP:0001238 ! Slender finger is_a: HP:0100807 ! Long fingers [Term] id: HP:0001167 name: Abnormality of finger alt_id: HP:0003035 def: "An anomaly of a finger." [HPO:probinson] synonym: "Abnormalities of the fingers" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011297 ! Abnormality of digit property_value: HP:0040005 "An anomaly of a `finger` (FMA:9666)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001169 name: Broad palm alt_id: HP:0001174 def: "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [HPO:probinson, pmid:19125433] comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). synonym: "Broad hand" EXACT [] synonym: "Broad hands" EXACT [HPO:skoehler] synonym: "Wide palm" EXACT [] xref: UMLS:C0264142 "Broad hands" xref: UMLS:C1849956 "Short broad hands" is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0001171 name: Split hand alt_id: HP:0001247 alt_id: HP:0003050 def: "A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands." [HPO:sdoelken] synonym: "Claw hand" EXACT [] synonym: "Claw hand deformities" EXACT [] synonym: "Claw hands" EXACT [] synonym: "Claw-hand deformities" EXACT [] synonym: "Ectrodactyly (hands)" EXACT [] synonym: "Ectrodactyly of the hand" EXACT [] synonym: "Split-hand" EXACT [] xref: SNOMEDCT:13624003 "Congenital cleft hand" xref: UMLS:C1842987 "Claw hand deformities" is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001172 name: Abnormality of the thumb def: "An anomaly of the thumb." [HPO:probinson] synonym: "Abnormality of the thumbs" EXACT [] synonym: "Thumb deformity" EXACT [] xref: UMLS:C0575897 "THUMB DEFORMITY" is_a: HP:0001167 ! Abnormality of finger property_value: HP:0040005 "An anomaly of the `thumb`(FMA:24938)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001176 name: Large hands alt_id: HP:0002820 alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] synonym: "large hand" EXACT [] xref: UMLS:C0426870 "Large hands" is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001177 name: Preaxial hand polydactyly alt_id: HP:0005629 alt_id: HP:0005634 alt_id: HP:0006182 alt_id: HP:0009604 def: "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:probinson] synonym: "Polydactyly affecting the thumb" EXACT [] synonym: "Preaxial polydactyly (hands)" EXACT [] synonym: "thumb polydactyly" EXACT [] xref: SNOMEDCT:205135003 "Radial polydactyly" xref: UMLS:C0345354 "Radial polydactyly" xref: UMLS:C1395852 "THUMB POLYDACTYLY" is_a: HP:0001161 ! Hand polydactyly is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001178 name: Ulnar claw def: "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm." [HPO:probinson] comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001180 name: Oligodactyly (hands) def: "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:probinson] is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001181 name: Adducted thumb alt_id: HP:0005646 def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [pmid:19125433] comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. synonym: "Adducted thumbs" EXACT [] xref: UMLS:C1832151 "Adducted thumbs" is_a: HP:0001172 ! Abnormality of the thumb [Term] id: HP:0001182 name: Tapered finger alt_id: HP:0005795 alt_id: HP:0005800 alt_id: HP:0006032 alt_id: HP:0006080 alt_id: HP:0006098 alt_id: HP:0006111 alt_id: HP:0006125 alt_id: HP:0006244 alt_id: HP:0007532 def: "The gradual reduction in girth of the digit from proximal to distal." [pmid:19125433] subset: hposlim_core synonym: "Distally tapering fingers" EXACT [] synonym: "TAPERED FINGERS" RELATED [HPO:skoehler] synonym: "Tapered fingertips" EXACT [] synonym: "Tapering fingers" EXACT [] xref: SNOMEDCT:249768009 "Tapering fingers" xref: UMLS:C0426886 "Tapering fingers" is_a: HP:0001167 ! Abnormality of finger is_a: HP:0100807 ! Long fingers [Term] id: HP:0001187 name: Hyperextensibility of the finger joints def: "The ability of the finger joints to move beyond their normal range of motion." [HPO:curators] synonym: "Hyperextensible digits" EXACT [] synonym: "Hyperextensible finger" EXACT [] synonym: "Hyperextensible fingers" RELATED [] xref: UMLS:C1835479 "Hyperextensible digits" is_a: HP:0001167 ! Abnormality of finger is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001188 name: Hand clenching def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints." [HPO:sdoelken, pmid:10085502] comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. subset: hposlim_core synonym: "Clenched hands" EXACT [] is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001191 name: Abnormality of the carpal bones def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:probinson] subset: hposlim_core synonym: "Abnormal carpal bones" EXACT [] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] xref: UMLS:C1861320 "Abnormal carpal bones" is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001193 name: Ulnar deviation of the hand or of fingers of the hand synonym: "Ulnar deviation of hands" EXACT [] synonym: "Ulnar deviation of the hands" EXACT [] is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0001194 name: Abnormalities of placenta or umbilical cord def: "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [HPO:curators] is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001195 name: Single umbilical artery def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [HPO:probinson] comment: The umbilical cord normally has two arteries and one vein. xref: MeSH:D058529 "Single umbilical artery" xref: UMLS:C1384670 "Single umbilical artery" is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system is_a: HP:0011403 ! Abnormal umbilical cord blood vessels is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0001196 name: Short umbilical cord def: "Decreased length of the umbilical cord." [HPO:probinson] xref: UMLS:C0266786 "Short umbilical cord" is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: HP:0040005 "Decreased length of the `umbilical cord` (FMA:85541)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001197 name: Abnormality of prenatal development or birth def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [HPO:probinson] comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001199 name: Triphalangeal thumb alt_id: HP:0005846 alt_id: HP:0006194 alt_id: HP:0009610 alt_id: HP:0009619 def: "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:probinson, pmid:19125433] comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. subset: hposlim_core synonym: "Accessory phalanx of the thumb" EXACT [] synonym: "Digitalized thumb" EXACT [] synonym: "Finger-like thumb" EXACT [] synonym: "Triphalangeal thumbs" EXACT [] synonym: "Triphalangy of thumb" EXACT [] xref: SNOMEDCT:205308004 "Triphalangeal thumb" xref: UMLS:C0241397 "Triphalangeal thumb" is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0009602 ! Abnormality of thumb phalanx [Term] id: HP:0001204 name: Distal symphalangism (hands) alt_id: HP:0006079 alt_id: HP:0006116 alt_id: HP:0009841 alt_id: HP:0009871 def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [HPO:sdoelken] synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT [] synonym: "Symphalangism, distal" EXACT [] synonym: "Synostosis of distal phalanges" EXACT [] synonym: "Terminal symphalangism" EXACT [] xref: UMLS:C1862158 "Terminal symphalangism" is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001211 name: Abnormality of the fingertips is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001212 name: Prominent fingertip pads alt_id: HP:0001235 def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:probinson] subset: hposlim_core synonym: "Persistence of fingerpads" EXACT [] synonym: "Persistent fetal fingertip pads" EXACT [] synonym: "Prominent finger pads" EXACT [] xref: UMLS:C1848512 "Prominent fingertip pads" is_a: HP:0001211 ! Abnormality of the fingertips is_a: HP:0011298 ! Prominent digit pad [Term] id: HP:0001215 name: Camptodactyly of 2nd-5th fingers def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0001216 name: Delayed ossification of carpal bones def: "Ossification of carpal bones occurs later than age-adjusted norms." [HPO:probinson] subset: hposlim_core synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] synonym: "Delayed maturation of carpal bones" EXACT [] xref: UMLS:C1841684 "Carpal delayed ossification" is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0001217 name: Clubbing alt_id: HP:0003036 alt_id: HP:0005874 def: "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [HPO:sdoelken, pmid:19125433] comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). synonym: "Clubbing of fingers and toes" EXACT [] synonym: "Digital clubbing" EXACT [] xref: UMLS:C0149651 "Clubbing" is_a: HP:0011297 ! Abnormality of digit [Term] id: HP:0001218 name: Autoamputation def: "Spontaneous detachment (amputation) of an appendage from the body." [HPO:probinson] xref: UMLS:C1833222 "Autoamputation" is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0001220 name: Interphalangeal joint contracture of finger def: "Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue." [HPO:probinson] synonym: "Interphalangeal joint flexion contractures" EXACT [] xref: UMLS:C1854605 "Interphalangeal joint flexion contractures" is_a: HP:0012785 ! Flexion contracture of finger [Term] id: HP:0001222 name: Spatulate thumbs def: "Spoon-shaped, broad thumbs." [HPO:curators] xref: UMLS:C0241395 "Spatulate thumbs" is_a: HP:0011304 ! Broad thumb [Term] id: HP:0001223 name: Pointed proximal second through fifth metacarpals def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators] is_a: HP:0006119 ! Proximal tapering of metacarpals [Term] id: HP:0001225 name: Wrist swelling xref: UMLS:C0241760 "WRIST SWELLING" is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001226 name: Acral ulceration and osteomyelitis leading to autoamputation of digits alt_id: HP:0005040 def: "Ulceration and osteomyelitis of the distal parts of the limbs associated with necrosis and spontaneous detachment of digits or parts of digits." [HPO:probinson] synonym: "Acral ulceration and osteomyelitis leading to autoamputation" EXACT [] is_a: HP:0007460 ! Autoamputation of digits is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001227 name: Abnormality of the thenar eminence def: "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb." [HPO:curators] synonym: "Thenar abnormality" EXACT [] is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0001230 name: Broad metacarpals alt_id: HP:0006024 alt_id: HP:0006065 def: "Abnormally broad metacarpal bones." [HPO:probinson] subset: hposlim_core synonym: "Wide metacarpals" EXACT [] xref: UMLS:C1842229 "Broad metacarpals" is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0001231 name: Abnormality of the fingernails def: "An abnormality of the fingernails." [HPO:probinson] synonym: "ABNORMAL FINGERNAILS" EXACT [HPO:skoehler] is_a: HP:0001597 ! Abnormality of the nail property_value: HP:0040005 "An abnormality of the `fingernails` (FMA:54327)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001232 name: Nail bed telangiectasia def: "Telangiectases in the area of the nails." [HPO:probinson] synonym: "Nail bed telangiectases" EXACT [] xref: UMLS:C1838167 "Nail bed telangiectases" is_a: HP:0001009 ! Telangiectasia is_a: HP:0001597 ! Abnormality of the nail property_value: HP:0040005 "Telangiectases in the area of the `nails` (FMA:54326)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001233 name: 2-3 finger syndactyly alt_id: HP:0006039 alt_id: HP:0006122 def: "Syndactyly with fusion of fingers two and three." [HPO:sdoelken] synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] xref: UMLS:C1839283 "Syndactyly 2nd-3rd fingers" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers two and three." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0001234 name: Hitchhiker thumb def: "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand." [HPO:probinson, pmid:19125433] comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. subset: hposlim_core synonym: "Abducted thumb" EXACT [] xref: UMLS:C1857269 "Hitchhiker thumb" is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009603 ! Deviation of the thumb is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0001238 name: Slender finger def: "Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [pmid:19125433] subset: hposlim_core synonym: "Narrow fingers" EXACT [] synonym: "SLENDER FINGERS" EXACT [HPO:skoehler] synonym: "thin fingers" EXACT [] xref: UMLS:C1857482 "Slender fingers" is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001239 name: Wrist flexion contracture alt_id: HP:0006049 alt_id: HP:0006137 def: "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist." [HPO:probinson] synonym: "Wrist contracture" EXACT [] synonym: "Wrist flexion deformity" EXACT [] xref: UMLS:C1850646 "Wrist contractures" is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0001241 name: Capitate-hamate fusion synonym: "Capitate-hamate fusions" EXACT [] synonym: "Fused capitate and hamate" EXACT [] synonym: "Fusion of capitate and hamate" EXACT [] synonym: "Fusion of hamate and capitate" EXACT [] xref: UMLS:C1857002 "Capitate-hamate fusion" is_a: HP:0004259 ! Abnormality of the hamate bone is_a: HP:0004262 ! Abnormality of the capitate bone is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0001245 name: Small thenar eminence alt_id: HP:0006188 def: "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb." [HPO:probinson, pmid:19125433] comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. subset: hposlim_core synonym: "Hypoplastic thenar eminences" EXACT [] synonym: "Thenar hypoplasia" EXACT [] synonym: "Thenar muscle hypoplasia" EXACT [] xref: UMLS:C1846474 "Thenar hypoplasia" is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001248 name: Short tubular bones (hand) is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001249 name: Intellectual disability alt_id: HP:0000730 alt_id: HP:0001267 alt_id: HP:0001286 alt_id: HP:0002122 alt_id: HP:0002192 alt_id: HP:0002316 alt_id: HP:0002382 alt_id: HP:0002386 alt_id: HP:0002402 alt_id: HP:0002458 alt_id: HP:0002482 alt_id: HP:0002499 alt_id: HP:0002543 alt_id: HP:0003767 alt_id: HP:0006833 alt_id: HP:0007154 alt_id: HP:0007176 alt_id: HP:0007180 def: "Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] comment: This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). synonym: "Dull intelligence" RELATED [] synonym: "Low intelligence" RELATED [] synonym: "Mental deficiency" EXACT [] synonym: "Mental retardation" EXACT [] synonym: "Mental retardation, nonspecific" EXACT [] synonym: "Mental-retardation" EXACT [] synonym: "Nonprogressive intellectual disability" EXACT [] synonym: "Nonprogressive mental retardation" EXACT [] synonym: "Poor school performance" RELATED [] xref: MeSH:D008607 "Intellectual Disability" xref: UMLS:C0025362 "Mental Retardation" xref: UMLS:C0423903 "Low intelligence" is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001250 name: Seizures alt_id: HP:0001275 alt_id: HP:0001303 alt_id: HP:0002125 alt_id: HP:0002182 alt_id: HP:0002279 alt_id: HP:0002306 alt_id: HP:0002348 alt_id: HP:0002391 alt_id: HP:0002417 alt_id: HP:0002430 alt_id: HP:0002431 alt_id: HP:0002432 alt_id: HP:0002434 alt_id: HP:0002437 alt_id: HP:0002466 alt_id: HP:0002479 alt_id: HP:0002794 alt_id: HP:0006997 alt_id: HP:0010520 def: "Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures." [HPO:probinson] comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. synonym: "Epilepsy" RELATED [] synonym: "Seizure" EXACT [] xref: MeSH:D012640 "Seizures" xref: UMLS:C0036572 "Seizure" is_a: HP:0012638 ! Abnormality of nervous system physiology property_value: HP:0040005 "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001251 name: Ataxia alt_id: HP:0001253 alt_id: HP:0002513 alt_id: HP:0007050 alt_id: HP:0007157 def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [HPO:probinson] comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. synonym: "Cerebellar ataxia" EXACT [] xref: MeSH:D001259 "Ataxia" xref: UMLS:C0004134 "Ataxia" is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001252 name: Muscular hypotonia alt_id: HP:0001318 def: "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] synonym: "Hypotonia" EXACT [] synonym: "Muscle hypotonia" EXACT [] xref: MeSH:D009123 "Muscle Hypotonia" xref: UMLS:C0026827 "Hypotonia" is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001254 name: Lethargy def: "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [HPO:probinson] xref: MeSH:D053609 "Lethargy" xref: UMLS:C0023380 "Lethargy" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001256 name: Intellectual disability, mild alt_id: HP:0006908 alt_id: HP:0007119 def: "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] synonym: "Mental retardation, borderline-mild" EXACT [] synonym: "Mental retardation, mild" RELATED [] synonym: "Mild and nonprogressive mental retardation" EXACT [] synonym: "Mild mental retardation" EXACT [] xref: UMLS:C0026106 "Mild Mental Retardation" is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0001257 name: Spasticity def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] synonym: "Muscle spasticity" EXACT [] synonym: "Muscular spasticity" EXACT [] xref: UMLS:C0026838 "Spasticity" is_a: HP:0001276 ! Hypertonia [Term] id: HP:0001258 name: Spastic paraplegia alt_id: HP:0007062 alt_id: HP:0007124 alt_id: HP:0007216 def: "Spasticity and weakness of the leg and hip muscles." [HPO:probinson] comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. synonym: "Spastic paraplegia, lower limb" EXACT [] xref: UMLS:C0037772 "Spastic Paraplegia" is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0010550 ! Paraplegia [Term] id: HP:0001259 name: Coma def: "Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli." [HPO:probinson] comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. xref: ICD-10:R40.2 "Coma, unspecified" xref: MeSH:D003128 "Coma" xref: UMLS:C0009421 "Coma" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001260 name: Dysarthria alt_id: HP:0002327 def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] synonym: "Dysarthric speech" EXACT [] xref: MeSH:D004401 "Dysarthria" xref: UMLS:C0013362 "Dysarthria" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001262 name: Somnolence xref: UMLS:C0013144 "Drowsiness" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001263 name: Global developmental delay alt_id: HP:0000754 alt_id: HP:0001255 alt_id: HP:0001277 alt_id: HP:0001292 alt_id: HP:0002433 alt_id: HP:0002473 alt_id: HP:0002532 alt_id: HP:0006793 alt_id: HP:0006867 alt_id: HP:0006885 alt_id: HP:0006935 alt_id: HP:0007005 alt_id: HP:0007094 alt_id: HP:0007106 alt_id: HP:0007174 alt_id: HP:0007224 alt_id: HP:0007228 alt_id: HP:0007342 def: "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. synonym: "Cognitive delay" RELATED [] synonym: "Delayed cognitive development" EXACT [] synonym: "Delayed development" EXACT [] synonym: "Delayed developmental milestones" EXACT [] synonym: "Delayed intellectual development" EXACT [] synonym: "Delayed milestones" EXACT [] synonym: "Delayed psychomotor development" EXACT [] synonym: "Developmental delay" EXACT [] synonym: "Developmental delay in early childhood" EXACT [] synonym: "Developmental delay, global" EXACT [] synonym: "Developmental retardation" EXACT [] synonym: "Lack of psychomotor development" EXACT [] synonym: "Mental and motor retardation" RELATED [] synonym: "Motor and developmental delay" EXACT [] synonym: "Psychomotor delay" EXACT [] synonym: "Psychomotor development deficiency" EXACT [] synonym: "Psychomotor development failure" EXACT [] synonym: "Psychomotor developmental delay" EXACT [] synonym: "Psychomotor retardation" EXACT [] synonym: "Retarded development" EXACT [] synonym: "Retarded mental development" EXACT [] synonym: "Retarded psychomotor development" EXACT [] xref: UMLS:C0557874 "Global developmental delay" is_a: HP:0012758 ! Neurodevelopmental delay [Term] id: HP:0001264 name: Spastic diplegia def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] is_a: HP:0001257 ! Spasticity [Term] id: HP:0001265 name: Hyporeflexia alt_id: HP:0002467 def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] synonym: "Decreased deep tendon reflexes" EXACT [] synonym: "Decreased tendon reflexes" EXACT [] synonym: "Depressed tendon reflexes" EXACT [] synonym: "Diminished deep tendon reflexes" EXACT [] xref: UMLS:C0151888 "Hyporeflexia" is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001266 name: Choreoathetosis alt_id: HP:0002469 alt_id: HP:0006811 alt_id: HP:0007028 alt_id: HP:0007337 def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [HPO:probinson] synonym: "Choreoathetoid movements" EXACT [] xref: UMLS:C0085583 "Choreoathetosis" is_a: HP:0002072 ! Chorea [Term] id: HP:0001268 name: Mental deterioration alt_id: HP:0002303 alt_id: HP:0006822 alt_id: HP:0007155 alt_id: HP:0007253 alt_id: HP:0007264 alt_id: HP:0007298 def: "Loss of previously present mental abilities, generally in adults." [HPO:probinson] synonym: "Cognitive decline" EXACT [] synonym: "Cognitive decline, progressive" EXACT [] synonym: "Intellectual deterioration" EXACT [] synonym: "Progressive cognitive decline" EXACT [] xref: UMLS:C0234985 "Mental deterioration" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001269 name: Hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength." [HPO:probinson, UKB:tklockgether] xref: UMLS:C0018989 "Hemiparesis" is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0001270 name: Motor delay alt_id: HP:0001307 alt_id: HP:0002130 alt_id: HP:0006788 alt_id: HP:0006826 alt_id: HP:0006909 alt_id: HP:0006950 alt_id: HP:0006968 alt_id: HP:0007219 alt_id: HP:0007251 def: "A type of Developmental delay characterized by a delay in acquiring motor skills." [HPO:probinson] synonym: "Delay in motor development" EXACT [] synonym: "Delayed early motor milestones" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Delayed motor milestones" EXACT [] synonym: "Locomotor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Motor developmental milestones not achieved" EXACT [] synonym: "Motor retardation" EXACT [] synonym: "No development of motor milestones" RELATED [] synonym: "Retarded motor development" EXACT [] xref: UMLS:C1854301 "Motor delay" xref: UMLS:C1858119 "Delayed early motor milestones" is_a: HP:0012758 ! Neurodevelopmental delay property_value: HP:0040005 "A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001271 name: Polyneuropathy alt_id: HP:0006941 alt_id: HP:0007287 def: "A generalized disorder of peripheral nerves." [HPO:curators] xref: MeSH:D011115 "Polyneuropathies" xref: UMLS:C0152025 "Polyneuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001272 name: Cerebellar atrophy alt_id: HP:0002364 alt_id: HP:0006839 alt_id: HP:0007072 alt_id: HP:0007203 def: "Atrophy (wasting) of the cerebellum." [HPO:probinson, pmid:12169461] comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. synonym: "Infratentorial atrophy" RELATED [] xref: UMLS:C0740279 "Cerebellar atrophy" is_a: HP:0001317 ! Abnormality of the cerebellum property_value: HP:0040005 "Atrophy (wasting) of the cerebellum`(FMA:67944)." xsd:string {xref="HPO:probinson", xref="pmid:12169461"} [Term] id: HP:0001273 name: Abnormality of the corpus callosum alt_id: HP:0007323 def: "Abnormality of the corpus callosum." [HPO:probinson, pmid:21263138] comment: The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. synonym: "Abnormal corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] xref: UMLS:C1842581 "Abnormal corpus callosum" is_a: HP:0002500 ! Abnormality of the cerebral white matter property_value: HP:0040005 "Abnormality of the `corpus callosum` (FMA:86464)." xsd:string {xref="HPO:probinson", xref="pmid:21263138"} [Term] id: HP:0001274 name: Agenesis of corpus callosum alt_id: HP:0006800 def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] synonym: "Absence of corpus callosum" EXACT [] synonym: "Absent corpus callosum" EXACT [] synonym: "Agenesis of the corpus callosum" EXACT [] synonym: "Callosal agenesis" EXACT [] synonym: "Corpus callosum agenesis" EXACT [] synonym: "Dysplastic or absent corpus callosum" EXACT [] xref: MeSH:D061085 "Agenesis of Corpus Callosum" xref: UMLS:C0175754 "Absent corpus callosum" is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001276 name: Hypertonia alt_id: HP:0002388 def: "A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. " [HPO:probinson] comment: Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. synonym: "Hypertonicity" EXACT [] synonym: "Increased muscle tone" EXACT [] synonym: "Muscle hypertonia" RELATED [] xref: MeSH:D009122 "Muscle Hypertonia" xref: UMLS:C0026826 "increased muscle tone" is_a: HP:0002493 ! Upper motor neuron dysfunction is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001278 name: Orthostatic hypotension alt_id: HP:0004932 alt_id: HP:0006700 def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:probinson] synonym: "Postural hypotension" EXACT [] xref: MeSH:D007024 "Hypotension, Orthostatic" is_a: HP:0002615 ! Hypotension is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0001279 name: Syncope def: "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow." [HPO:probinson] xref: MeSH:D013575 "Syncope" xref: UMLS:C0039070 "Syncope" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology created_by: peter creation_date: 2008-02-25T10:37:00Z [Term] id: HP:0001281 name: Tetany def: "A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system." [MeSH:D013746] xref: MeSH:D013746 "Tetany" xref: UMLS:C0039621 "Tetany" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0001283 name: Bulbar palsy alt_id: HP:0003441 alt_id: HP:0003709 def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] synonym: "Bulbar muscle weakness" EXACT [] synonym: "Bulbar palsies" EXACT [] synonym: "Bulbar weakness" EXACT [] xref: UMLS:C0030442 "Bulbar Palsy" is_a: HP:0001324 ! Muscle weakness is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001284 name: Areflexia alt_id: HP:0001314 def: "Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] comment: The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). synonym: "Absent deep tendon reflexes" EXACT [] synonym: "Absent tendon reflexes" EXACT [] synonym: "Deep tendon reflexes absent" EXACT [] synonym: "Loss of deep tendon reflexes" EXACT [] xref: UMLS:C0234146 "Areflexia" is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001285 name: Spastic tetraparesis alt_id: HP:0002393 def: "Spastic weakness affecting all four limbs." [HPO:curators] synonym: "Spastic quadriparesis" EXACT [] xref: UMLS:C1853397 "Spastic tetraparesis" is_a: HP:0001257 ! Spasticity [Term] id: HP:0001287 name: Meningitis def: "Inflammation of the meninges." [HPO:probinson] xref: MeSH:D008581 "Meningitis" xref: UMLS:C0025289 "Meningitis" is_a: HP:0011450 ! CNS infection property_value: HP:0040005 "`Inflammation` (MPATH:212) of the `meninges` (FMA:231572)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001288 name: Gait disturbance alt_id: HP:0006953 def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:probinson] comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. synonym: "Abnormal gait" EXACT [] synonym: "Gait abnormalities" EXACT [] synonym: "Gait difficulties" EXACT [] synonym: "Gait disturbances" EXACT [] synonym: "Impaired gait" EXACT [] xref: UMLS:C0575081 "Gait disturbance" xref: UMLS:C1839568 "Impaired gait" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001289 name: Confusion alt_id: HP:0000731 def: "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] synonym: "Disorientation" EXACT [] xref: MeSH:D003221 "Confusion" xref: UMLS:C1963086 "Confusion" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001290 name: Generalized hypotonia def: "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] synonym: "Generalized muscular hypotonia" EXACT [] synonym: "Hypotonia, generalized" EXACT [] xref: UMLS:C1858120 "Generalized hypotonia" is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001291 name: Abnormality of the cranial nerves alt_id: HP:0003480 def: "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:probinson] synonym: "Cranial nerve abnormality" RELATED [] synonym: "Cranial nerve disease" EXACT [] synonym: "Cranial nerve involvement" EXACT [] xref: UMLS:C1854510 "Cranial nerve involvement" is_a: HP:0000759 ! Abnormal peripheral nervous system morphology property_value: HP:0040005 "Abnormality affecting one or more of the `cranial nerves` (FMA:5865), which emerge directly from the brain stem." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001293 name: Cranial nerve compression xref: UMLS:C0521670 "Cranial nerve compression" is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0001297 name: Stroke alt_id: HP:0002452 def: "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain." [HPO:probinson] synonym: "Cerebral vascular events" EXACT [] synonym: "Cerebrovascular accident" EXACT [] synonym: "CEREBROVASCULAR ACCIDENTS" RELATED [HPO:skoehler] xref: MeSH:D020521 "Stroke" xref: UMLS:C0038454 "Stroke" xref: UMLS:C1849743 "Cerebral vascular events" is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0001298 name: Encephalopathy def: "Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state." [HPO:probinson, KI:phemming] comment: This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. xref: UMLS:C1963101 "Encephalopathy" is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001300 name: Parkinsonism def: "Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [HPO:probinson] synonym: "Parkinsonian disease" RELATED [] xref: UMLS:C0242422 "Parkinsonism" is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0001301 name: Chronic sensorineural polyneuropathy xref: UMLS:C1167650 "Chronic Polyneuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001302 name: Pachygyria def: "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] synonym: "Cerebral pachygyria" EXACT [] xref: UMLS:C0266483 "Macrogyria" is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001304 name: Torsion dystonia def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [HPO:probinson] synonym: "Dystonia musculorum deformans" EXACT [] xref: UMLS:C0013423 "Torsion Dystonia" is_a: HP:0001332 ! Dystonia [Term] id: HP:0001305 name: Dandy-Walker malformation alt_id: HP:0001313 alt_id: HP:0006809 def: "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:probinson] synonym: "Dandy-walker anomaly" EXACT [] synonym: "Dandy-Walker cyst" EXACT [] xref: MeSH:D003616 "Dandy-Walker Syndrome" xref: UMLS:C1856021 "Dandy-Walker anomaly" is_a: HP:0001320 ! Cerebellar vermis hypoplasia is_a: HP:0002198 ! Dilated fourth ventricle is_a: HP:0002350 ! Cerebellar cyst is_a: HP:0005445 ! Widened posterior fossa [Term] id: HP:0001308 name: Tongue fasciculations alt_id: HP:0003727 def: "Fasciculations or fibrillation affecting the tongue muscle." [HPO:probinson] synonym: "Tongue fasciculation" EXACT [] synonym: "Tongue fasciculations/fibrillations" EXACT [] xref: UMLS:C0239548 "Fasciculation, Tongue" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation [Term] id: HP:0001310 name: Dysmetria def: "A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [HPO:probinson] comment: Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. xref: UMLS:C0234162 "Dysmetria" is_a: HP:0001251 ! Ataxia property_value: HP:0040005 "A type of `ataxia` (HP:0001251) characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001311 name: Abnormal nervous system electrophysiology alt_id: HP:0002531 alt_id: HP:0003129 def: "An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations." [HPO:probinson] synonym: "Neurophysiologic abnormalities" EXACT [] synonym: "Neurophysiologic abnormality" EXACT [] is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001312 name: Giant somatosensory evoked potentials def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [HPO:curators] synonym: "Giant somatosensory evoked potentials (SEPS)" EXACT [] is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001315 name: Reduced tendon reflexes alt_id: HP:0001316 def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [HPO:probinson, pmid:20941667] comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. synonym: "Absent or decreased deep tendon reflexes" EXACT [] synonym: "Decreased to absent deep tendon reflexes" EXACT [] synonym: "Decreased/absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent tendon reflexes" EXACT [] synonym: "Hypoactive to absent deep tendon reflexes" EXACT [] synonym: "Impaired tendon reflexes" EXACT [] synonym: "Reduced/absent deep tendon reflexes" EXACT [] synonym: "Weak or absent deep tendon reflexes" EXACT [] is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0001317 name: Abnormality of the cerebellum def: "An abnormality of the cerebellum." [HPO:probinson] synonym: "Cerebellar abnormalities" EXACT [] synonym: "Cerebellar abnormality" EXACT [] synonym: "Cerebellar anomaly" EXACT [] synonym: "Cerebellar signs" EXACT [] xref: UMLS:C0007760 "Cerebellar abnormalities" is_a: HP:0011283 ! Abnormality of the metencephalon property_value: HP:0040005 "An abnormality of the `cerebellum` (FMA:67944)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001319 name: Neonatal hypotonia alt_id: HP:0008976 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] synonym: "Hypotonia, in neonatal onset" EXACT [] synonym: "Hypotonia, neonatal" EXACT [] xref: UMLS:C2267233 "Neonatal Hypotonia" is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia def: "Underdevelopment of the vermis of cerebellum." [HPO:probinson] synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis" EXACT [] xref: UMLS:C1865061 "Cerebellar vermis hypoplasia" is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis property_value: HP:0040005 "Underdevelopment of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001321 name: Cerebellar hypoplasia alt_id: HP:0006806 alt_id: HP:0006910 alt_id: HP:0007038 alt_id: HP:0007053 def: "Underdevelopment of the cerebellum." [HPO:probinson] comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] xref: UMLS:C0266470 "Cerebellar hypoplasia" xref: UMLS:C1261175 "Pontocerebellar hypoplasia" is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum property_value: HP:0040005 "Underdevelopment of the `cerebellum` (FMA:67944)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001322 name: Brain very small is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0001324 name: Muscle weakness alt_id: HP:0002309 alt_id: HP:0008979 alt_id: HP:0009012 alt_id: HP:0009061 def: "Reduced strength of muscles." [HPO:probinson, pmid:15832536] comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. synonym: "Muscular weakness" EXACT [] synonym: "Weakness" RELATED [] xref: MeSH:D018908 "Muscle weakness" xref: UMLS:C0151786 "Muscle Weakness" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0001325 name: Hypoglycemic coma synonym: "Coma, hypoglycemic" EXACT [] synonym: "Hypoglycaemic coma" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] xref: UMLS:C0020617 "Hypoglycaemic coma" is_a: HP:0001259 ! Coma [Term] id: HP:0001326 name: EEG with irregular generalized spike and wave complexes def: "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency." [HPO:jalbers] is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0001327 name: Photomyoclonic seizures xref: UMLS:C0036572 "Seizure" is_a: HP:0002123 ! Generalized myoclonic seizures [Term] id: HP:0001328 name: Specific learning disability alt_id: HP:0007234 def: "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson] comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. xref: UMLS:C0751265 "Learning disability" is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0001331 name: Absent septum pellucidum alt_id: HP:0006969 def: "Absence of the septum pellucidum." [HPO:probinson] comment: TODO: Bundled term. Revise annotations and split this term. synonym: "Absence of septum pellucidum" EXACT [] synonym: "Absence of the septum pellucidum" EXACT [] synonym: "Agenesis of the septum pellucidum" EXACT [] xref: UMLS:C1848502 "Absent septum pellucidum" is_a: HP:0007375 ! Abnormality of the septum pellucidum property_value: HP:0040005 "Absence of the `septum pellucidum` (FMA:61844)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001332 name: Dystonia alt_id: HP:0002328 def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:probinson] synonym: "Dystonic disease" RELATED [] synonym: "Dystonic movements" EXACT [] xref: MeSH:D004421 "Dystonia" xref: UMLS:C0013421 "Dystonia" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001334 name: Communicating hydrocephalus def: "A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, HPO:probinson] comment: Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. xref: UMLS:C0009451 "Communicating Hydrocephalus" is_a: HP:0000238 ! Hydrocephalus property_value: HP:0040005 "A form of `hydrocephalus` (HP:0000238) in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." xsd:string {xref="HPO:probinson", xref="eMedicine:1135286"} [Term] id: HP:0001335 name: Bimanual synkinesia def: "Mirror hand movements." [HPO:probinson] synonym: "Hand mirror movements" EXACT [] synonym: "Mirror hand movements" EXACT [] synonym: "Mirror movements" EXACT [] xref: UMLS:C0454455 "Mirror movements" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001336 name: Myoclonus alt_id: HP:0002535 def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:probinson] synonym: "Myoclonic jerks" EXACT [] xref: MeSH:D009207 "Myoclonus" xref: UMLS:C0027066 "Myoclonus" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001337 name: Tremor alt_id: HP:0001295 alt_id: HP:0001309 def: "An unintentional, oscillating to-and-fro muscle movement." [HPO:probinson, pmid:16344298] comment: Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. xref: MeSH:D014202 "Tremor" xref: UMLS:C1963252 "Tremor" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum alt_id: HP:0006982 alt_id: HP:0007090 alt_id: HP:0007128 def: "A partial failure of the development of the corpus callosum." [HPO:curators] synonym: "Corpus callosum agenesis, partial" EXACT [] synonym: "Partial agenesis of corpus callosum" EXACT [] synonym: "Partial corpus callosum agenesis" EXACT [] synonym: "Partial or complete agenesis of corpus callosum" EXACT [] synonym: "PARTIAL OR COMPLETE AGENESIS OF THE CORPUS CALLOSUM" RELATED [HPO:skoehler] synonym: "Partial to complete agenesis of corpus callosum" EXACT [] synonym: "Partial-total agenesis of corpus callosum" EXACT [] xref: UMLS:C0431368 "Corpus callosum agenesis, partial" is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0001339 name: Lissencephaly alt_id: HP:0002537 def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure." [HPO:curators] synonym: "Agyria" EXACT [] xref: MeSH:D054082 "Lissencephaly" xref: UMLS:C0266463 "Lissencephaly" is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001340 name: Enhancement of the C-reflex def: "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [HPO:probinson, pmid:4819909] is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001341 name: Olfactory lobe agenesis synonym: "Olfactory lobe absence" EXACT [] xref: UMLS:C1855331 "Olfactory lobe absence" is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0001342 name: Cerebral hemorrhage alt_id: HP:0002137 def: "Hemorrhage into the parenchyma of the brain." [HPO:gcarletti] comment: A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. synonym: "Intracerebral hemorrhage" EXACT [] xref: MeSH:D002543 "Cerebral hemorrhage" xref: UMLS:C0007784 "CEREBRAL HAEMORRHAGE" is_a: HP:0002170 ! Intracranial hemorrhage property_value: HP:0040005 "`Hemorrhage` (MPATH:119) into the parenchyma of the `brain` (FMA:50801)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0001343 name: Kernicterus def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [HPO:probinson] xref: MeSH:D007647 "Kernicterus" xref: UMLS:C0022610 "Kernicterus" is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0001344 name: Absent speech alt_id: HP:0001617 alt_id: HP:0006798 def: "Complete lack of development of speech and language abilities." [HPO:probinson] comment: This term should not be used in very young children. synonym: "Absent speech development" EXACT [] synonym: "Lack of language development" EXACT [] synonym: "Lack of speech" EXACT [] synonym: "No speech development" EXACT [] synonym: "No speech or language development" EXACT [] xref: UMLS:C1856200 "Absent speech" is_a: HP:0000750 ! Delayed speech and language development is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001345 name: Psychotic mentation is_a: HP:0000709 ! Psychosis [Term] id: HP:0001347 name: Hyperreflexia alt_id: HP:0001282 alt_id: HP:0006820 alt_id: HP:0007184 alt_id: HP:0007318 def: "Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson] comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. synonym: "Increased deep tendon reflexes" EXACT [] synonym: "Increased reflexes" EXACT [] xref: UMLS:C0151889 "Hyperreflexia" is_a: HP:0002493 ! Upper motor neuron dysfunction [Term] id: HP:0001348 name: Brisk reflexes is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001349 name: Facial diplegia alt_id: HP:0005334 alt_id: HP:0007085 def: "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:probinson] subset: hposlim_core synonym: "Bilateral facial palsy" EXACT [] synonym: "Bilateral facial weakness" EXACT [] synonym: "Facial paresis, bilateral" EXACT [] xref: UMLS:C1836003 "Facial diplegia" is_a: HP:0010628 ! Facial palsy [Term] id: HP:0001350 name: Slurred speech def: "Abnormal coordination of muscles involved in speech." [DDD:fmunitoni] xref: UMLS:C0234518 "Slurred speech" is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001351 name: Jerk-locked premyoclonus spikes def: "Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. " [HPO:probinson, pmid:1464676] is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0001355 name: Megalencephaly def: "Enlargement of all or parts of the cerebral hemispheres." [HPO:probinson] synonym: "Macrencephaly" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0001357 name: Plagiocephaly alt_id: HP:0001121 def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [pmid:19125436] comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. subset: hposlim_core xref: MeSH:D059041 "Plagiocephaly" xref: UMLS:C0265529 "Plagiocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0001360 name: Holoprosencephaly alt_id: HP:0009807 def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [HPO:probinson] comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. synonym: "Single brain ventricle" EXACT [] xref: MeSH:D016142 "Holoprosencephaly" xref: UMLS:C0079541 "Holoprosencephaly" is_a: HP:0012443 ! Abnormality of brain morphology [Term] id: HP:0001361 name: Nystagmus-induced head nodding def: "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision." [HPO:probinson] is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001362 name: Skull defect def: "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:probinson] is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0001363 name: Craniosynostosis alt_id: HP:0001365 alt_id: HP:0004494 alt_id: HP:0005448 alt_id: HP:0005457 alt_id: HP:0005467 alt_id: HP:0008492 def: "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:probinson] comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. subset: hposlim_core synonym: "Craniostenosis" RELATED [] synonym: "Craniosyostosis" EXACT [] synonym: "Early fusion of cranial sutures" EXACT [] synonym: "Premature closure of cranial sutures" EXACT [] synonym: "Premature fontanel closure" EXACT [] xref: MeSH:D003398 "Craniosynostoses" xref: UMLS:C0010278 "Craniosynostosis" is_a: HP:0002648 ! Abnormality of calvarial morphology is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0001367 name: Abnormal joint morphology def: "An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join." [HPO:probinson] synonym: "Abnormality of the joints" EXACT [] synonym: "Anomaly of the joints" EXACT [] synonym: "Joint disease" RELATED [] is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: HP:0040005 "An abnormal structure or form of the `joints` (FMA:73023), i.e., one or more of the articulations where two bones join." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001369 name: Arthritis def: "Inflammation of a joint." [HPO:probinson] xref: MeSH:D001168 "Arthritis" xref: UMLS:C0003864 "Arthritis" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001370 name: Rheumatoid arthritis def: "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [HPO:probinson] xref: MeSH:D001172 "Arthritis, Rheumatoid" xref: UMLS:C0003873 "Rheumatoid Arthritis" is_a: HP:0001369 ! Arthritis [Term] id: HP:0001371 name: Flexion contracture alt_id: HP:0001372 alt_id: HP:0001381 alt_id: HP:0005053 alt_id: HP:0005189 alt_id: HP:0005660 def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] synonym: "Contracture" EXACT [] synonym: "CONTRACTURES" RELATED [HPO:skoehler] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] synonym: "Joint contracture" EXACT [] synonym: "Joint contractures" EXACT [] xref: MeSH:D003286 "Contracture" xref: UMLS:C0333068 "Flexion contracture" is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0011729 ! Abnormality of joint mobility is_a: HP:0011805 ! Abnormality of muscle morphology is_a: HP:0100261 ! Abnormal tendon morphology [Term] id: HP:0001373 name: Joint dislocation alt_id: HP:0002772 def: "Displacement or malalignment of joints." [HPO:curators] synonym: "Dislocations" EXACT [] synonym: "Recurrent joint dislocations" EXACT [] is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001374 name: Congenital hip dislocation synonym: "Congenital dislocation of the hip" EXACT [] synonym: "Congenital dislocation of the hips" EXACT [] synonym: "Congenital hip anomaly" EXACT [] synonym: "Congenital hip dislocations" EXACT [] xref: MeSH:D006618 "Hip Dislocation, Congenital" is_a: HP:0002827 ! Hip dislocation [Term] id: HP:0001376 name: Limitation of joint mobility alt_id: HP:0003101 def: "A reduction in the freedom of movement of one or more joints." [HPO:probinson] synonym: "Decreased joint mobility" EXACT [] synonym: "Decreased mobility of joints" EXACT [] synonym: "Limited joint mobility" EXACT [] synonym: "Limited joint motion" EXACT [] xref: UMLS:C1856088 "Limited joint mobility" is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001377 name: Limited elbow extension alt_id: HP:0005073 def: "Limited ability to straighten the arm at the elbow joint." [HPO:probinson] subset: hposlim_core synonym: "Decreased elbow extension" EXACT [] synonym: "Elbow limited extension" EXACT [] synonym: "Limitation of elbow extension" EXACT [] synonym: "Limited extension at elbows" EXACT [] synonym: "Limited forearm extension" EXACT [] synonym: "Restricted elbow extension" EXACT [] xref: UMLS:C1865003 "Limited elbow extension" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0001379 name: Degenerative joint disease xref: UMLS:C0029408 "Osteoarthritis" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001380 name: Ligamentous laxity synonym: "Joint ligamentous laxity" EXACT [] xref: UMLS:C1850677 "Ligamentous laxity" is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001382 name: Joint hypermobility alt_id: HP:0001378 alt_id: HP:0005034 def: "The ability of a joint to move beyond its normal range of motion." [HPO:probinson] synonym: "Extensible joints" EXACT [] synonym: "Hyperextensible joints" EXACT [] synonym: "Increased mobility of joints" EXACT [] synonym: "Joint hyperextensibility" EXACT [] xref: MeSH:D007593 "Joint Instability" xref: UMLS:C1833778 "Mild joint hypermobility" is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001384 name: Abnormality of the hip joint def: "An abnormality of the hip joint." [HPO:probinson] synonym: "Abnormality of the hip joints" RELATED [] is_a: HP:0003272 ! Abnormality of the hip bone is_a: HP:0005262 ! Abnormality of the synovia is_a: HP:0100491 ! Abnormality of lower limb joint property_value: HP:0040005 "An abnormality of the `hip joint` (FMA:35178)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001385 name: Hip dysplasia alt_id: HP:0008787 def: "The presence of developmental dysplasia of the hip." [HPO:probinson] synonym: "Congenital hip dysplasia" EXACT [] xref: UMLS:C1328407 "Hip dysplasia" is_a: HP:0003272 ! Abnormality of the hip bone property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `hip` (FMA:24964)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001386 name: Joint swelling xref: UMLS:C0152031 "Joint swelling" is_a: HP:0000969 ! Edema is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001387 name: Joint stiffness alt_id: HP:0002775 alt_id: HP:0003033 def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:probinson] comment: This term may be made obsolete in the future. The mild degree can be indicated in the annotation file. synonym: "Joint stiffness (hands, shoulder, elbows, knees, and ankles)" EXACT [] synonym: "Mild joint stiffness" EXACT [] synonym: "Stiff joint" EXACT [] synonym: "Stiff joints" EXACT [] xref: UMLS:C0162298 "Stiff joint" is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0001388 name: Joint laxity alt_id: HP:0001383 alt_id: HP:0002771 def: "Lack of stability of a joint." [HPO:probinson] comment: Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. synonym: "Lax joints" EXACT [] synonym: "Loose-jointedness" EXACT [] synonym: "Loosejointedness" EXACT [] xref: MeSH:D007593 "Joint Instability" xref: UMLS:C0086437 "Laxity, Joint" is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001392 name: Abnormality of the liver def: "An abnormality of the liver." [HPO:probinson] synonym: "Liver abnormality" EXACT [] synonym: "Liver disease" RELATED [] is_a: HP:0002012 ! Abnormality of the abdominal organs property_value: HP:0040005 "An abnormality of the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001394 name: Cirrhosis def: "A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." [HPO:probinson] comment: Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. synonym: "Hepatic cirrhosis" EXACT [] synonym: "LIVER CIRRHOSIS" RELATED [HPO:skoehler] xref: MeSH:D008103 "Liver Cirrhosis" xref: UMLS:C0023890 "Cirrhosis" is_a: HP:0001392 ! Abnormality of the liver property_value: HP:0040005 "A chronic disorder of the `liver` (FMA:7197) in which liver tissue becomes `scarred` (PATO:0001850) and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001395 name: Hepatic fibrosis def: "The presence of fibrosis of the liver tissue." [HPO:probinson] xref: UMLS:C0239946 "Hepatic fibrosis" is_a: HP:0001392 ! Abnormality of the liver property_value: HP:0040005 "The presence of `fibrosis` (MPATH:181) of the `liver` (FMA:7197) tissue." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001396 name: Cholestasis def: "Impairment of bile flow due to obstruction in bile ducts." [HPO:probinson] xref: MeSH:D002779 "Cholestasis" xref: UMLS:C0008370 "Cholestasis" is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001397 name: Hepatic steatosis alt_id: HP:0002252 alt_id: HP:0200121 def: "The presence of steatosis in the liver." [eMedicine:175472, HPO:probinson] comment: Steatosis refers to an abnormal accumulation of lipids within a cell or tissue. synonym: "Fatty infiltration of liver" EXACT [] synonym: "Fatty liver" EXACT [] synonym: "Liver steatosis" EXACT [] synonym: "Steatosis" EXACT [] xref: MeSH:D005234 "Fatty Liver" xref: UMLS:C0015695 "Hepatic steatosis" is_a: HP:0001392 ! Abnormality of the liver property_value: HP:0040005 "The presence of `steatosis` (MPATH:622) in the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson", xref="eMedicine:175472"} [Term] id: HP:0001399 name: Hepatic failure synonym: "Liver failure" EXACT [] xref: MeSH:D017093 "Liver Failure" xref: UMLS:C0085605 "Liver Failure" is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0001400 name: Hepatic abscesses due to immunodeficiency is_a: HP:0002721 ! Immunodeficiency is_a: HP:0100523 ! Liver abscess [Term] id: HP:0001401 name: Intrahepatic biliary dysgenesis xref: UMLS:C1859235 "Intrahepatic biliary dysgenesis" is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0001402 name: Hepatocellular carcinoma alt_id: HP:0002899 alt_id: HP:0003007 alt_id: HP:0006750 def: "A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." [HPO:probinson] comment: Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis. synonym: "Increased hepatocellular carcinoma risk" RELATED [] synonym: "Increased incidence of hepatocellular carcinoma" RELATED [] xref: MeSH:D006528 "Carcinoma, Hepatocellular" xref: UMLS:C1512411 "Hepatocellular carcinoma" is_a: HP:0002896 ! Neoplasm of the liver property_value: HP:0040005 "A kind of `neoplasm of the liver` (HP:0002896) that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001403 name: Macrovesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] synonym: "Macrovesicular steatosis" EXACT [] xref: UMLS:C1837256 "Macrovesicular steatosis" is_a: HP:0001397 ! Hepatic steatosis property_value: HP:0040005 "A form of `hepatic steatosis` (HP:0001397) characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001404 name: Hepatocellular necrosis synonym: "Hepatocellular loss" EXACT [] xref: UMLS:C1855038 "Hepatocellular loss" is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0001405 name: Periportal fibrosis def: "The presence of fibrosis affecting the interlobular stroma of liver." [HPO:probinson] comment: Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells. xref: UMLS:C1849766 "Periportal fibrosis" is_a: HP:0001395 ! Hepatic fibrosis property_value: HP:0040005 "The presence of `fibrosis` (MPATH:181) affecting the `interlobular stroma of liver` (FMA:17525)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001406 name: Intrahepatic cholestasis def: "Impairment of bile flow due to obstruction in the small bile ducts within the liver." [HPO:probinson] xref: MeSH:D002780 "Cholestasis, Intrahepatic" xref: UMLS:C0008372 "Intrahepatic Cholestasis" is_a: HP:0001396 ! Cholestasis [Term] id: HP:0001407 name: Hepatic cysts xref: UMLS:C0267834 "Hepatic cysts" is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0001408 name: Bile duct proliferation def: "Proliferative changes of the bile ducts." [HPO:probinson] synonym: "Proliferation of bile canaliculi" EXACT [] xref: UMLS:C0267818 "Bile duct proliferation" is_a: HP:0012439 ! Abnormal biliary tract physiology property_value: HP:0040005 "Proliferative changes of the `bile ducts` (FMA:9706)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001409 name: Portal hypertension def: "Increased pressure in the portal vein." [HPO:probinson] comment: Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg. xref: MeSH:D006975 "Hypertension, Portal" xref: UMLS:C0020541 "Hypertension, Portal" is_a: HP:0000822 ! Hypertension is_a: HP:0006707 ! Abnormality of the hepatic vasculature property_value: HP:0040005 "`Increased pressure` (PATO:0001576) in the `portal vein` (FMA:66645)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001410 name: Decreased liver function alt_id: HP:0004393 alt_id: HP:0005228 alt_id: HP:0006570 def: "Reduced ability of the liver to perform its functions." [HPO:probinson] synonym: "Liver dysfunction" EXACT [] synonym: "LIVER DYSFUNCTION, MILD" RELATED [HPO:skoehler] xref: UMLS:C0086565 "Liver Dysfunction" xref: UMLS:C0232744 "Decreased liver function" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001412 name: Enteroviral hepatitis xref: UMLS:C1843995 "Enteroviral hepatitis" is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0001413 name: Micronodular cirrhosis def: "A type of cirrhosis characterized by the presence of small regenerative nodules." [HPO:probinson] comment: In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy. xref: UMLS:C0267812 "Micronodular cirrhosis" is_a: HP:0001394 ! Cirrhosis property_value: HP:0040005 "A type of `cirrhosis` (HP:0001394) characterized by the presence of small regenerative nodules." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001414 name: Microvesicular hepatic steatosis def: "A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] comment: This finding can be demonstrated by liver biopsy. synonym: "Microvesicular steatosis" EXACT [] xref: UMLS:C1850415 "Microvesicular steatosis" is_a: HP:0001397 ! Hepatic steatosis property_value: HP:0040005 "A form of `hepatic steatosis` (HP:0001397) characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001417 name: X-linked inheritance alt_id: HP:0001418 def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] synonym: "X-linked" EXACT [] synonym: "X-LINKED FORM" RELATED [HPO:skoehler] xref: UMLS:C0241764 is_a: HP:0010985 ! Gonosomal inheritance [Term] id: HP:0001419 name: X-linked recessive inheritance def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] synonym: "X-LINKED RECESSIVE" EXACT [HPO:skoehler] xref: UMLS:C0241764 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001421 name: Abnormality of the musculature of the hand is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:59:00Z [Term] id: HP:0001423 name: X-linked dominant inheritance def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] synonym: "X-LINKED DOMINANT" EXACT [HPO:skoehler] is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001425 name: Heterogeneous synonym: "Genetic heterogeneity" EXACT [] synonym: "Heterogeneity" EXACT [] synonym: "Heterogeneity." EXACT [] synonym: "Heterogeneous." EXACT [] is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001426 name: Multifactorial inheritance alt_id: HP:0001429 def: "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [HPO:probinson] xref: MeSH:D020412 "Multifactorial Inheritance" is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001427 name: Mitochondrial inheritance alt_id: HP:0001431 alt_id: HP:0001458 alt_id: HP:0001506 def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [HPO:probinson] synonym: "Mitochondrial" EXACT [] is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001428 name: Somatic mutation xref: UMLS:C0544886 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001430 name: Abnormality of the calf musculature alt_id: HP:0004300 synonym: "Abnormality of calf musculature" EXACT [] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:18:00Z [Term] id: HP:0001433 name: Hepatosplenomegaly def: "Simultaneous enlargement of the liver and spleen." [HPO:probinson] xref: UMLS:C0019214 "Hepatosplenomegaly" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0001743 ! Abnormality of the spleen is_a: HP:0003271 ! Visceromegaly property_value: HP:0040005 "Simultaneous `enlargement` (PATO:0000586) of the `liver` (FMA:7197) and `spleen` (FMA:7196)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T10:51:00Z [Term] id: HP:0001435 name: Abnormality of the shoulder girdle musculature alt_id: HP:0004301 synonym: "Abnormality of shoulder musculature" EXACT [] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:19:00Z [Term] id: HP:0001436 name: Abnormality of the foot musculature def: "An anomaly of the musculature of foot." [HPO:probinson] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs property_value: HP:0040005 "An anomaly of the `musculature of foot` (FMA:50214)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001437 name: Abnormality of the musculature of the lower limbs is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001438 name: Abnormality of the abdomen def: "Abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson] synonym: "Abdomen abnormality" RELATED [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "Abnormality of the `abdomen` (FMA:9577) ('belly'), that is, the part of the body between the pelvis and the thorax." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001440 name: Synostosis involving metatarsal bones alt_id: HP:0004705 alt_id: HP:0008098 synonym: "Fusion of metatarsals" EXACT [] synonym: "Metatarsal synostosis" EXACT [] xref: UMLS:C1834165 "Metatarsal synostosis" is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals created_by: peter creation_date: 2008-04-17T02:36:00Z [Term] id: HP:0001441 name: Abnormality of the musculature of the thigh is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:27:00Z [Term] id: HP:0001442 name: Somatic mosaicism def: "The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations." [HPO:probinson, pmid:12360233] xref: UMLS:C1866227 is_a: HP:0001428 ! Somatic mutation [Term] id: HP:0001443 name: Abnormality of the gluteal musculature is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001444 name: Autosomal dominant somatic cell mutation is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001445 name: Abnormality of the hip-girdle musculature is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001446 name: Abnormality of the musculature of the upper limbs is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T10:40:00Z [Term] id: HP:0001449 name: Duplication of metatarsal bones is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0009136 ! Duplication involving bones of the feet created_by: peter creation_date: 2008-04-17T02:37:00Z [Term] id: HP:0001450 name: Y-linked inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators] xref: UMLS:C0814045 is_a: HP:0010985 ! Gonosomal inheritance [Term] id: HP:0001452 name: Autosomal dominant contiguous gene syndrome is_a: HP:0000006 ! Autosomal dominant inheritance is_a: HP:0001466 ! Contiguous gene syndrome [Term] id: HP:0001454 name: Abnormality of the upper arm is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2008-04-07T10:41:00Z [Term] id: HP:0001457 name: Abnormality of the musculature of the upper arm is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001454 ! Abnormality of the upper arm created_by: peter creation_date: 2008-04-07T10:42:00Z [Term] id: HP:0001459 name: 1-3 toe syndactyly def: "Syndactyly with fusion of toes one to three." [HPO:sdoelken] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes one to three." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0001460 name: Aplasia/Hypoplasia involving the skeletal musculature def: "Absence or underdevelopment of the musculature." [HPO:curators] is_a: HP:0030236 ! Abnormality of muscle size created_by: peter creation_date: 2008-04-07T10:46:00Z [Term] id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature def: "Absence or underdevelopment of the muscles of the shoulder." [HPO:curators] is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:49:00Z [Term] id: HP:0001465 name: Amyotrophy involving the shoulder musculature is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature created_by: peter creation_date: 2008-04-07T10:50:00Z [Term] id: HP:0001466 name: Contiguous gene syndrome xref: UMLS:C1855496 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001467 name: Aplasia/Hypoplasia involving the musculature of the upper limbs def: "Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities created_by: peter creation_date: 2008-04-07T10:51:00Z [Term] id: HP:0001468 name: Aplasia/Hypoplasia involving the musculature of the upper arm def: "Absence or underdevelopment of the muscles of the upper arm." [HPO:curators] is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:52:00Z [Term] id: HP:0001469 name: Abnormality of the musculature of the pelvis is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2008-04-07T10:55:00Z [Term] id: HP:0001470 name: Sex-limited autosomal dominant is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001471 name: Aplasia/Hypoplasia of the musculature of the pelvis is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:56:00Z [Term] id: HP:0001472 name: Familial predisposition is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001473 name: Metatarsal osteolysis alt_id: HP:0001866 def: "Osteolysis involving metatarsal bones." [HPO:probinson] synonym: "Osteolysis involving metatarsal bones" EXACT [] xref: UMLS:C1854614 "Metatarsal osteolysis" is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0009134 ! Osteolysis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:38:00Z [Term] id: HP:0001474 name: Sclerotic scapulae def: "Increased density of the bony tissue of the scapula." [HPO:probinson] subset: hposlim_core xref: UMLS:C1849263 "Sclerotic scapulae" is_a: HP:0000782 ! Abnormality of the scapula [Term] id: HP:0001475 name: Male-limited autosomal dominant is_a: HP:0001470 ! Sex-limited autosomal dominant [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson] synonym: "Delayed anterior fontanelle closure" EXACT [] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure anterior fontanelle" EXACT [] synonym: "Delayed closure of anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] synonym: "Late closure of large anterior fontanel" EXACT [] synonym: "Persistent anterior fontanelle" EXACT [] xref: UMLS:C1855653 "Delayed closure anterior fontanel" is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000270 ! Delayed cranial suture closure [Term] id: HP:0001477 name: Compensatory chin elevation def: "A tendency to hold the child elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [HPO:probinson] synonym: "Compensatory head tilt/chin elevation" EXACT [] xref: UMLS:C1846911 "Compensatory chin elevation" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0001480 name: Freckling def: "The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] xref: UMLS:C0016689 "Freckles" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001482 name: Subcutaneous nodule alt_id: HP:0005903 def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [HPO:probinson] comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. subset: hposlim_core synonym: "Multiple, subcutaneous nodules" RELATED [] synonym: "Subcutaneous nodules" RELATED [] xref: SNOMEDCT:95325000 "Subcutaneous nodule" xref: UMLS:C0151811 "subcutaneous nodules" is_a: HP:0200036 ! Skin nodule [Term] id: HP:0001483 name: Eye poking def: "Repetitive pressing, poking, and/or rubbing in the eyes." [HPO:probinson, pmid:8881355] comment: Eye poking is usually observed in children with an intellectual and visual handicap. xref: UMLS:C0233593 "Eye poking" is_a: HP:0000733 ! Stereotypic behavior [Term] id: HP:0001487 name: Hypopigmented fundi synonym: "Hypopigmented ocular fundus" EXACT [] xref: UMLS:C1856885 "Hypopigmented fundi" is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001488 name: Bilateral ptosis xref: UMLS:C1865916 "Bilateral ptosis" is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Vitreous detachment xref: MeSH:D020255 "Vitreous Detachment" xref: UMLS:C0042907 "Vitreous Detachment" is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0001491 name: Congenital fibrosis of extraocular muscles def: "Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements." [HPO:probinson] subset: hposlim_core synonym: "Congenital fibrosis of extraocular muscles (CFEOM)" EXACT [] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0001492 name: Axenfeld anomaly def: "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [HPO:probinson] subset: hposlim_core xref: UMLS:C0266548 "Axenfeld anomaly" is_a: HP:0007700 ! Anterior segment dysgenesis [Term] id: HP:0001493 name: Falciform retinal fold alt_id: HP:0008013 def: "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [HPO:probinson] synonym: "Congenital retinal fold" EXACT [] xref: UMLS:C0344550 "Congenital retinal fold" xref: UMLS:C1866177 "Falciform retinal folds" is_a: HP:0008052 ! Abnormal retinal folds [Term] id: HP:0001495 name: Carpal osteolysis def: "Osteolysis affecting carpal bones." [HPO:probinson] subset: hposlim_core synonym: "Carpal bone osteolysis" EXACT [] xref: UMLS:C1854608 "Carpal osteolysis" is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0002797 ! Osteolysis [Term] id: HP:0001498 name: Carpal bone hypoplasia alt_id: HP:0001209 alt_id: HP:0006029 alt_id: HP:0006072 alt_id: HP:0006117 alt_id: HP:0006130 alt_id: HP:0006227 def: "Underdevelopment of one or more carpal bones." [HPO:probinson] subset: hposlim_core synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] synonym: "Small carpal bones" EXACT [] synonym: "Small carpals" EXACT [] xref: UMLS:C1873508 "Carpal bone hypoplasia" is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones property_value: HP:0040005 "Underdevelopment of one or more `carpal bones` (FMA:23889)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001500 name: Broad finger alt_id: HP:0001497 def: "Increased width of a non-thumb digit of the hand." [pmid:19125433] comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". subset: hposlim_core synonym: "Broad fingers" EXACT [] synonym: "Wide fingers" EXACT [] xref: UMLS:C1844906 "Broad fingers" is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001501 name: 6 metacarpals xref: UMLS:C0025526 "Metacarpals" is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0001504 name: Metacarpal osteolysis synonym: "Metacarpals osteolysis" EXACT [] xref: UMLS:C1854610 "Metacarpal osteolysis" is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0002797 ! Osteolysis [Term] id: HP:0001507 name: Growth abnormality alt_id: HP:0008904 synonym: "ABNORMAL GROWTH" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001508 name: Failure to thrive alt_id: HP:0001535 alt_id: HP:0008853 alt_id: HP:0008878 alt_id: HP:0008916 def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). synonym: "Poor weight gain" RELATED [] synonym: "Postnatal failure to thrive" EXACT [] xref: MeSH:D005183 "Failure to thrive" xref: UMLS:C0015544 "Failure to Thrive" xref: UMLS:C0231246 "Poor weight gain" xref: UMLS:C1838628 "Postnatal failure to thrive" xref: UMLS:C1854925 "Progressive failure to thrive" is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001510 name: Growth delay alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001514 alt_id: HP:0001517 alt_id: HP:0001532 alt_id: HP:0008847 alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008893 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [HPO:probinson] comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT [] synonym: "Growth deficiency" EXACT [] synonym: "Growth failure" EXACT [] synonym: "Growth retardation" EXACT [] synonym: "Poor growth" EXACT [] synonym: "Retarded growth" EXACT [] synonym: "VERY POOR GROWTH" RELATED [HPO:skoehler] xref: UMLS:C0476243 "Physical retardation" xref: UMLS:C0878787 "Growth failure" is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001511 name: Intrauterine growth retardation alt_id: HP:0001515 alt_id: HP:0008862 alt_id: HP:0008892 alt_id: HP:0008931 def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. synonym: "In utero growth retardation" EXACT [] synonym: "Intrauterine growth failure" EXACT [] synonym: "Intrauterine growth restriction" EXACT [] synonym: "Intrauterine growth retardation (IUGR)" EXACT [] synonym: "Intrauterine growth retardation, IUGR" EXACT [] synonym: "Intrauterine retardation" EXACT [] synonym: "Prenatal growth deficiency" EXACT [] synonym: "Prenatal growth failure" EXACT [] synonym: "Prenatal growth retardation" EXACT [] synonym: "Prenatal onset growth retardation" EXACT [] synonym: "Prenatal-onset growth retardation" EXACT [] synonym: "Small for gestational age infant" EXACT [] xref: UMLS:C1844889 "Prenatal growth deficiency" xref: UMLS:C1855336 "Variable prenatal growth deficiency" xref: UMLS:C1855652 "Intrauterine growth failure" is_a: HP:0001510 ! Growth delay [Term] id: HP:0001513 name: Obesity def: "Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese." [HPO:probinson, MeSH:D009765] xref: MeSH:D009765 "Obesity" xref: UMLS:C1963185 "Obesity" is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001518 name: Small for gestational age alt_id: HP:0001422 alt_id: HP:0008849 alt_id: HP:0008919 alt_id: HP:0008927 def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth] synonym: "Birth weight less than 10th percentile" EXACT [] synonym: "Low birth weight" EXACT [] is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001519 name: Disproportionate tall stature alt_id: HP:0003511 alt_id: HP:0008864 def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [DDD:hfirth, HPO:probinson] synonym: "Dolichostenomelia" EXACT [] synonym: "Marfanoid body habitus" EXACT [] synonym: "Marfanoid habitus" EXACT [] synonym: "Reduced upper-lower segment ratio" EXACT [] xref: UMLS:C0003706 "Dolichostenomelia" xref: UMLS:C1836997 "Reduced upper-lower segment ratio" is_a: HP:0000098 ! Tall stature [Term] id: HP:0001520 name: Large for gestational age alt_id: HP:0001825 def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, HPO:probinson] comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. synonym: "Birth weight > 90th percentile" EXACT [] synonym: "Birthweight > 90th percentile" EXACT [] synonym: "Fetal macrosomia" EXACT [] synonym: "Macrosomia" EXACT [] synonym: "Macrosomia, neonatal" EXACT [HPO:skoehler] xref: MeSH:D005320 "Fetal Macrosomia" is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001522 name: Death in infancy alt_id: HP:0003816 alt_id: HP:0003817 alt_id: HP:0003818 alt_id: HP:0003823 alt_id: HP:0003827 def: "Death within the first 24 months of life." [HPO:probinson] synonym: "Death in early childhood" RELATED [] synonym: "Infantile death" EXACT [] synonym: "Lethal in infancy" EXACT [] is_a: HP:0011420 ! Time of death [Term] id: HP:0001525 name: Severe failure to thrive alt_id: HP:0008876 synonym: "Marked failure to thrive" EXACT [] synonym: "Severe postnatal failure to thrive" EXACT [] xref: UMLS:C1855514 "Severe failure to thrive" xref: UMLS:C1857668 "Severe postnatal failure to thrive" is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001528 name: Hemihypertrophy alt_id: HP:0006416 def: "Overgrowth of only one side of the body." [HPO:probinson] synonym: "Asymmetric limb hypertrophy" EXACT [] xref: UMLS:C0332890 "Hemihypertrophy" is_a: HP:0040064 ! Abnormality of limbs is_a: HP:0100555 ! Asymmetric growth [Term] id: HP:0001530 name: Mild postnatal growth retardation alt_id: HP:0008860 alt_id: HP:0008917 def: "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [DDD:hfirth] synonym: "Mild growth deficiency" RELATED [] synonym: "Postnatal onset of mild growth retardation" EXACT [] xref: UMLS:C1860835 "Mild growth deficiency" is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0001531 name: Failure to thrive in infancy alt_id: HP:0008863 alt_id: HP:0008925 synonym: "Failure to thrive in first year of life" EXACT [] is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001533 name: Slender build alt_id: HP:0001529 def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:probinson] comment: Slender, long-limbed habitus. synonym: "Asthenic habitus" EXACT [] xref: UMLS:C1861200 "Asthenic habitus" is_a: HP:0000098 ! Tall stature is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001537 name: Umbilical hernia def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:probinson] subset: hposlim_core synonym: "Umbilical hernias" EXACT [] xref: MeSH:D006554 "Hernia, Umbilical" xref: SNOMEDCT:396347007 "Umbilical hernia" xref: UMLS:C0019322 "Umbilical Hernias" is_a: HP:0001551 ! Abnormality of the umbilicus is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001538 name: Protuberant abdomen def: "A thrusting or bulging out of the abdomen." [HPO:probinson] synonym: "Abdominal protuberance" EXACT [] xref: UMLS:C1849208 "Protuberant abdomen" is_a: HP:0003270 ! Abdominal distention [Term] id: HP:0001539 name: Omphalocele def: "A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord." [HPO:probinson] subset: hposlim_core synonym: "Omphalocoele" EXACT [] xref: MEDRA:10030309 "Omphalocoele" xref: SNOMEDCT:18735004 "Congenital omphalocele" xref: UMLS:C0795690 "Omphalocele" is_a: HP:0004299 ! Hernia of the abdominal wall property_value: HP:0040005 "A midline anterior `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054) in which there is herniation of the abdominal viscera into the base of the abdominal cord." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001540 name: Diastasis recti def: "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [HPO:probinson] comment: Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns. subset: hposlim_core xref: SNOMEDCT:62629000 "Diastasis recti" xref: UMLS:C0221766 "Diastasis recti" is_a: HP:0010991 ! Abnormality of the abdominal musculature [Term] id: HP:0001541 name: Ascites def: "Accumulation of fluid in the peritoneal cavity." [HPO:probinson] comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. subset: hposlim_core xref: MeSH:D001201 "Ascites" xref: UMLS:C0003962 "Ascites" is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001543 name: Gastroschisis def: "A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs to extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." [HPO:probinson] subset: hposlim_core xref: MEDRA:10018046 "Gastroschisis" xref: MeSH:D020139 "Gastroschisis" xref: SNOMEDCT:72951007 "Gastroschisis" xref: UMLS:C0265706 "Gastroschisis" is_a: HP:0010866 ! Abdominal wall defect property_value: HP:0040005 "A type of congenital ventral `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054) in which the intestines and sometimes other organs to extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001544 name: Prominent umbilicus def: "Abnormally prominent umbilicus (belly button)." [HPO:curators] xref: UMLS:C1837795 "Prominent umbilicus" is_a: HP:0001551 ! Abnormality of the umbilicus [Term] id: HP:0001545 name: Anteriorly placed anus def: "Anterior malposition of the anus." [HPO:probinson] subset: hposlim_core synonym: "Anteriorly displaced anus" EXACT [] synonym: "Anus anteposition" EXACT [] is_a: HP:0004397 ! Ectopic anus [Term] id: HP:0001547 name: Abnormality of the rib cage def: "A morphological anomaly of the rib cage." [HPO:probinson] is_a: HP:0000765 ! Abnormality of the thorax property_value: HP:0040005 "A morphological anomaly of the `rib cage` (FMA:7480)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001548 name: Overgrowth def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [HPO:probinson] synonym: "FETAL OVERGROWTH" RELATED [HPO:skoehler] synonym: "GENERALIZED OVERGROWTH" RELATED [HPO:skoehler] xref: UMLS:C1849265 "Overgrowth" is_a: HP:0000098 ! Tall stature is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0001549 name: Abnormality of the ileum is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2008-02-20T11:05:00Z [Term] id: HP:0001551 name: Abnormality of the umbilicus def: "Abnormality of the umbilicus." [HPO:probinson] comment: The umbilicus is also known as the belly button or the navel. synonym: "Abnormal umbilicus" EXACT [] xref: UMLS:C1849338 "Abnormal umbilicus" is_a: HP:0004298 ! Abnormality of the abdominal wall property_value: HP:0040005 "Abnormality of the `umbilicus` (FMA:61584)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001552 name: Barrel-shaped chest alt_id: HP:0000781 alt_id: HP:0001553 def: "A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis." [HPO:probinson] comment: Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease. subset: hposlim_core synonym: "Barrel chest" EXACT [] xref: SNOMEDct:24228002 "Barrel chest" xref: UMLS:C0264172 "Barrel chest" xref: UMLS:C1839322 "Barrel-shaped chest" is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001555 name: Asymmetry of the thorax def: "Lack of symmetry between the left and right halves of the thorax." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric chest" EXACT [] xref: SNOMEDCT:249672002 "Asymmetrical thorax" xref: UMLS:C1858033 "Asymmetric chest" is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0001557 name: Prenatal movement abnormality alt_id: HP:0007629 def: "An abnormality of fetal movement." [HPO:probinson] comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. synonym: "Abnormal intrauterine movements" EXACT [] xref: UMLS:C1849510 "Abnormal intrauterine movements" is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001558 name: Decreased fetal movement alt_id: HP:0001559 alt_id: HP:0006840 alt_id: HP:0007630 alt_id: HP:0007631 def: "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] synonym: "Decreased fetal activity" EXACT [] synonym: "Decreased fetal movements" EXACT [] synonym: "Decreased movement in utero" EXACT [] synonym: "Fetal hypokinesia" EXACT [] synonym: "Reduced fetal movement" EXACT [] synonym: "Reduced fetal movements" EXACT [] xref: UMLS:C0235659 "Decreased fetal movements" is_a: HP:0001557 ! Prenatal movement abnormality [Term] id: HP:0001560 name: Abnormality of the amniotic fluid def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators] synonym: "abnormal amniotic fluid" EXACT [] is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001561 name: Polyhydramnios alt_id: HP:0005098 def: "The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. synonym: "Hydramnios" EXACT [] xref: MeSH:D006831 "Polyhydramnios" xref: UMLS:C0020224 "Hydramnios" is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001562 name: Oligohydramnios alt_id: HP:0004638 def: "Diminished amniotic fluid volume in pregnancy." [HPO:probinson] comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. synonym: "Maternal oligohydramnios" EXACT [] xref: MeSH:D016104 "Oligohydramnios" xref: UMLS:C0079924 "Oligohydramnios" is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001563 name: Fetal polyuria def: "Abnormally increased production of urine by the fetus resulting in polyhydramnios." [HPO:probinson, pmid:21460147] comment: The fetal urine production rate can be measured by ultrasonography. xref: UMLS:C1865279 "Fetal polyuria" is_a: HP:0001560 ! Abnormality of the amniotic fluid property_value: HP:0040005 "Abnormally increased production of urine by the fetus resulting in `polyhydramnios` (HP:0001561)." xsd:string {xref="HPO:probinson", xref="pmid:21460147"} [Term] id: HP:0001566 name: Widely-spaced maxillary central incisors alt_id: HP:0000669 alt_id: HP:0001570 alt_id: HP:0006300 alt_id: HP:0006324 def: "Increased distance between the maxillary central permanent incisor tooth." [HPO:ibailleulforestier] synonym: "Central incisor gap" EXACT [] synonym: "Diastasis of the central incisors" EXACT [] synonym: "Separated superior central incisors" EXACT [] synonym: "Wide gap between upper central incisors" EXACT [] synonym: "Wide upper central incisors" EXACT [] synonym: "Widely spaced upper incisors" EXACT [] xref: UMLS:C1835762 "Wide upper central incisors" is_a: HP:0000699 ! Diastema is_a: HP:0006304 ! Widely-spaced incisors property_value: HP:0040005 "Increased distance between the `maxillary central permanent incisor tooth` (FMA:55722)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0001571 name: Multiple impacted teeth def: "The presence of multiple impacted teeth." [HPO:ibailleulforestier] synonym: "Impacted teeth" EXACT [] is_a: HP:0011079 ! Impacted tooth property_value: HP:0040005 "The presence of `multiple` (PATO:0002118) `impacted teeth` (HP:0011079)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0001572 name: Macrodontia def: "Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [HPO:ibailleulforestier, pmid:19125428] comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. subset: hposlim_core synonym: "Large teeth" EXACT [] xref: SNOMEDCT:71485000 "Macrodontia" xref: UMLS:C0266036 "Macrodontia" is_a: HP:0006482 ! Abnormality of dental morphology property_value: HP:0040005 "`Increased size` (PATO:0000586) of the `teeth` (FMA:12516), which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." xsd:string {xref="HPO:ibailleulforestier", xref="pmid:19125428"} [Term] id: HP:0001574 name: Abnormality of the integument def: "An abnormality of the integument, which consists of the skin and the superficial fascia." [HPO:probinson] comment: Abnormality of skin, hair, or nails. is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `integument` (FMA:74657), which consists of the skin and the superficial fascia." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001575 name: Mood changes xref: UMLS:C0085633 "Mood change" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0001578 name: Hypercortisolism alt_id: HP:0000850 alt_id: HP:0004316 def: "Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features." [DDD:spark, HPO:probinson] synonym: "Cushing syndrome" EXACT [] synonym: "Increased cortisol production" EXACT [] xref: UMLS:C0010481 "Hypercortisolism" is_a: HP:0002717 ! Adrenal overactivity property_value: HP:0040005 "Overproduction of the hormone of `cortisol` (CHEBI:17650) by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features." xsd:string {xref="DDD:spark", xref="HPO:probinson"} [Term] id: HP:0001579 name: Primary hypercorticolism def: "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol." [HPO:probinson] synonym: "ACTH-independent hypercortisolemia" RELATED [] xref: UMLS:C1968852 "ACTH-independent hypercortisolemia" is_a: HP:0001578 ! Hypercortisolism [Term] id: HP:0001580 name: Pigmented micronodular adrenocortical disease xref: UMLS:C1968851 "Pigmented micronodular adrenocortical disease" is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0001581 name: Recurrent skin infections alt_id: HP:0007563 def: "Infections of the skin that happen multiple times." [HPO:curators] synonym: "Cutaneous infections" EXACT [] synonym: "Skin infections" EXACT [] synonym: "Skin infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C1853193 "Recurrent skin infections" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001582 name: Redundant skin alt_id: HP:0007391 def: "Loose and sagging skin often associated with loss of skin elasticity." [HPO:probinson] synonym: "Loose redundant skin" EXACT [] synonym: "Redundant skin folds" EXACT [] synonym: "Sagging, redundant skin" EXACT [] xref: UMLS:C1855241 "Redundant skin folds" is_a: HP:0000973 ! Cutis laxa [Term] id: HP:0001583 name: Rotary nystagmus def: "A form of nystagmus in which the eyeball makes rotary motions around the axis." [HPO:probinson] subset: hposlim_core synonym: "Rotatory Nystagmus" EXACT [] xref: UMLS:C0240595 "Rotary Nystagmus" is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001586 name: Vesicovaginal fistula def: "The presence of a fistula connecting the urinary bladder to the vagina." [HPO:probinson] xref: MeSH:D014719 "Vesicovaginal Fistula" xref: UMLS:C0042582 "Vesico-vaginal fistula" is_a: HP:0004320 ! Vaginal fistula is_a: HP:0004321 ! Bladder fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) connecting the `urinary bladder` (FMA:15900) to the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001587 name: Primary ovarian failure def: "Malfunctioning of the ovaries such that a girl never begins menstruation." [HPO:probinson] synonym: "Primary ovarian insufficiency" EXACT [] xref: MeSH:D016649 "Primary Ovarian Insufficiency" xref: UMLS:C0271606 "Primary ovarian failure" is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0001591 name: Bell-shaped thorax alt_id: HP:0006626 alt_id: HP:0006664 def: "The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, follwed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter." [HPO:probinson] comment: A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities. subset: hposlim_core synonym: "Bell-shaped chest" EXACT [] synonym: "Constricted, bell-shaped thorax" EXACT [] synonym: "Narrow, bell-shaped thorax" EXACT [] xref: UMLS:C1865186 "Bell-shaped chest" is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0001592 name: Selective tooth agenesis def: "Agenesis specifically affecting one of the classes incisor, premolar, or molar." [HPO:ibailleulforestier] xref: UMLS:C1970308 "Selective tooth agenesis" is_a: HP:0009804 ! Reduced number of teeth property_value: HP:0040005 "`Agenesis` (MPATH:57) specifically affecting one of the classes `incisor` (FMA:12823), `premolar` (FMA:55637), or `molar` (FMA:55638)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0001593 name: Maxillary lateral incisor microdontia def: "Decreased size of the maxillary permanent incisor." [HPO:ibailleulforestier] is_a: HP:0000691 ! Microdontia is_a: HP:0011063 ! Abnormality of incisor morphology property_value: HP:0040005 "`Decreased size` (PATO:0000587) of the `maxillary permanent incisor` (FMA:55713)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0001595 name: Abnormality of the hair def: "An abnormality of the hair." [HPO:probinson] subset: hposlim_core synonym: "Hair abnormality" EXACT [] xref: UMLS:C0157733 "Hair abnormality" is_a: HP:0011138 ! Abnormality of skin adnexa property_value: HP:0040005 "An abnormality of the `hair` (FMA:53667)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001596 name: Alopecia alt_id: HP:0002238 alt_id: HP:0008068 def: "Loss of hair from the head or body." [HPO:probinson] subset: hposlim_core synonym: "Hair loss" EXACT [] xref: MEDRA:10001760 "Alopecia" xref: MeSH:D000505 "Alopecia" xref: SNOMEDCT:56317004 "Alopecia" xref: UMLS:C0002170 "Alopecia" is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001597 name: Abnormality of the nail def: "Abnormality of the nail." [HPO:probinson] comment: Abnormality of the fingernails and/or toenails. synonym: "Nail disease" RELATED [] xref: MeSH:D009260 "Nail Diseases" is_a: HP:0011138 ! Abnormality of skin adnexa property_value: HP:0040005 "Abnormality of the `nail` (FMA:54326)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001598 name: Concave nail alt_id: HP:0001815 def: "The natural longitudinal (posterodistal) convex arch is not present or is inverted." [pmid:19125433] comment: Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. subset: hposlim_core synonym: "Koilonychia" EXACT [] synonym: "Spoon-shaped nails" EXACT [] xref: UMLS:C0221261 "Koilonychia" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001600 name: Abnormality of the larynx def: "An abnormality of the larynx." [HPO:probinson] synonym: "Laryngeal abnormalities" EXACT [] synonym: "Laryngeal anomalies" EXACT [] is_a: HP:0002087 ! Abnormality of the upper respiratory tract property_value: HP:0040005 "An abnormality of the `larynx` (FMA:55097)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001601 name: Laryngomalacia def: "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [HPO:probinson] comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. xref: MeSH:D055092 "Laryngomalacia" xref: UMLS:C0264303 "Laryngomalacia" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001602 name: Laryngeal stenosis def: "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [HPO:probinson] xref: MeSH:D007829 "Laryngostenosis" xref: UMLS:C0023075 "Laryngeal Stenosis" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001604 name: Vocal cord paresis alt_id: HP:0001603 alt_id: HP:0001616 alt_id: HP:0008745 def: "Decreased strength of the vocal folds." [HPO:probinson] comment: Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat. synonym: "Hoarse voice due to vocal cord paresis" EXACT [] synonym: "Vocal cord paresis in severe cases" EXACT [] synonym: "Weakness of the vocal cords" EXACT [] xref: UMLS:C0751576 "Vocal Cord Paresis" is_a: HP:0008777 ! Abnormality of the vocal cords property_value: HP:0040005 "`Decreased strength` (PATO:0001779) of the `vocal folds` (FMA:55457)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001605 name: Vocal cord paralysis alt_id: HP:0006847 def: "A loss of the ability to move the vocal folds." [HPO:probinson] comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. xref: MeSH:D014826 "Vocal Cord Paralysis" xref: UMLS:C0042928 "Vocal Cord Paralysis" is_a: HP:0008777 ! Abnormality of the vocal cords property_value: HP:0040005 "A loss of the ability to move the `vocal folds` (FMA:55457)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001606 name: Vocal cord paralysis (caused by tumor impingement) is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0001607 name: Subglottic stenosis xref: UMLS:C0238441 "Subglottic stenosis" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001608 name: Abnormality of the voice def: "Any abnormality of the voice." [HPO:probinson, MeSH:D014831] comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. synonym: "Voice abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001609 name: Hoarse voice alt_id: HP:0001619 def: "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [HPO:probinson] synonym: "Hoarseness" EXACT [] synonym: "Husky voice" EXACT [] xref: MeSH:D006685 "Hoarseness" xref: UMLS:C0019825 "Hoarse voice" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001611 name: Nasal speech alt_id: HP:0001614 def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech, associated with incomplete or weak closure of the velum." [HPO:sdoelken] comment: Examination is by nasal endoscopy. synonym: "Hypernasal speech" EXACT [] synonym: "Hypernasal voice" EXACT [] synonym: "Nasal voice" EXACT [] xref: UMLS:C1839742 "Nasal speech" xref: UMLS:C1861154 "Hypernasal speech" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001612 name: Weak cry xref: UMLS:C0234860 "Weak cry" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001613 name: Hoarse voice (caused by tumor impingement) is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001615 name: Hoarse cry xref: UMLS:C0019825 "Hoarse voice" is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001618 name: Dysphonia def: "An impairment in the ability to produce voice sounds." [HPO:probinson] xref: MeSH:D055154 "Dysphonia" xref: UMLS:C1527344 "Dysphonia" is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001620 name: High pitched voice alt_id: HP:0001610 alt_id: HP:0008374 alt_id: HP:0008377 alt_id: HP:0008378 alt_id: HP:0008379 alt_id: HP:0009146 def: "An abnormal increase in the pitch (frequency) of the voice." [HPO:probinson] synonym: "High-pitched voice" EXACT [] xref: UMLS:C0241703 "High pitched voice" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001621 name: Weak voice def: "Reduced intensity (volume) of speech." [HPO:probinson] comment: Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization. synonym: "Hypophonia" RELATED [] synonym: "Soft voice" EXACT [] is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001622 name: Premature birth def: "The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] synonym: "Premature delivery" EXACT [] synonym: "Premature delivery of affected infants" EXACT [] synonym: "Preterm delivery" EXACT [] synonym: "Shortened gestation time" EXACT [] xref: MeSH:D047928 "Premature Birth" xref: UMLS:C2028283 "premature birth" is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001623 name: Breech presentation def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson] synonym: "Breech presentation at birth" EXACT [] xref: MeSH:D001946 "Breech Presentation" xref: UMLS:C2053609 "breech presentation" is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001626 name: Abnormality of the cardiovascular system def: "Any abnormality of the cardiovascular system." [HPO:probinson] comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system. synonym: "Cardiovascular abnormality" EXACT [] synonym: "Cardiovascular disease" RELATED [] xref: MeSH:D018376 "Cardiovascular Abnormalities" xref: UMLS:C0243050 "CARDIOVASCULAR ABNORMALITY" is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "Any abnormality of the `cardiovascular system` (FMA:7161)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001627 name: Abnormality of cardiac morphology def: "An abnormality of the heart." [HPO:probinson] synonym: "Abnormality of the heart" EXACT [] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: HP:0040005 "An abnormality of the `heart` (FMA:7088)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001629 name: Ventricular septal defect alt_id: HP:0001652 def: "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] synonym: "Ventricular septal defects" EXACT [] synonym: "Ventriculoseptal defect" EXACT [] xref: UMLS:C1859213 "Ventriculoseptal defect" is_a: HP:0010438 ! Abnormality of the ventricular septum [Term] id: HP:0001631 name: Defect in the atrial septum alt_id: HP:0001630 def: "Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson] synonym: "Atria septal defect" EXACT [] synonym: "Atrial septal defect" EXACT [] synonym: "ATRIAL SEPTAL DEFECT (ASD)" EXACT [HPO:skoehler] xref: ICD-10:Q21.1 xref: UMLS:C0018817 "Atrial septal defect" is_a: HP:0005120 ! Abnormality of cardiac atrium is_a: HP:0011994 ! Abnormality of the atrial septum property_value: HP:0040005 "Atrial septal defect (ASD) is a congenital abnormality of the `interatrial septum` (FMA:7108) that enables blood flow between the left and right atria via the interatrial septum." xsd:string {xref="DDD:dbrown", xref="HPO:probinson"} [Term] id: HP:0001633 name: Abnormality of the mitral valve def: "An abnormality of the mitral valve." [HPO:probinson] is_a: HP:0006705 ! Abnormality of the atrioventricular valves property_value: HP:0040005 "An abnormality of the `mitral valve` (FMA:7235)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001634 name: Mitral valve prolapse def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] comment: Mitral valve prolapse can be associated with mitral regurgitation. xref: MeSH:D008945 "Mitral Valve Prolapse" is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001635 name: Congestive heart failure alt_id: HP:0006686 def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:probinson] synonym: "Cardiac failure" EXACT [] synonym: "Cardiac insufficiency" EXACT [] synonym: "Heart failure" EXACT [] xref: MeSH:D006333 "Heart Failure" xref: UMLS:C0018802 "Congestive heart failure" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0001636 name: Tetralogy of Fallot def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:probinson] synonym: "Tetrology of fallot" EXACT [] xref: ICD-10:Q21.3 xref: MeSH:D013771 "Tetralogy of Fallot" xref: UMLS:C0039685 "Tetralogy of Fallot" is_a: HP:0001710 ! Conotruncal defect [Term] id: HP:0001637 name: Abnormality of the myocardium is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001638 name: Cardiomyopathy def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, pmid:17916581] xref: MeSH:D009202 "Cardiomyopathy" xref: UMLS:C0878544 "Cardiomyopathy" is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001639 name: Hypertrophic cardiomyopathy def: "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [pmid:17916581] synonym: "Cardiomyopathy, hypertrophic" EXACT [] xref: MeSH:D002312 "Cardiomyopathy, Hypertrophic" xref: UMLS:C0340425 "Hypertrophic Cardiomyopathy" is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001640 name: Cardiomegaly def: "Increased size of the heart." [HPO:probinson] xref: MeSH:D006332 "Cardiomegaly" xref: UMLS:C0018800 "Cardiomegaly" is_a: HP:0001627 ! Abnormality of cardiac morphology property_value: HP:0040005 "`Increased size` (PATO:0000586) of the `heart` (FMA:7088)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001641 name: Abnormality of the pulmonary valve def: "An abnormality of the pulmonary valve." [HPO:probinson] synonym: "Anomaly of the pulmonary valve" EXACT [] is_a: HP:0001654 ! Abnormality of the heart valves property_value: HP:0040005 "An abnormality of the `pulmonary valve` (FMA:7246)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001642 name: Pulmonic stenosis def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] comment: Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] xref: UMLS:C1956257 "Pulmonic stenosis" is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0001643 name: Patent ductus arteriosus def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, pmid:20421261] synonym: "Ductus arteriosus" EXACT [] synonym: "Persistent arterial duct" EXACT [] synonym: "Persistent ductus arteriosus" EXACT [] xref: MeSH:D004374 "Ductus Arteriosus, Patent" xref: UMLS:C0013274 "Patent ductus arteriosus" is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001644 name: Dilated cardiomyopathy alt_id: HP:0001725 alt_id: HP:0005159 alt_id: HP:0200130 def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [pmid:17916581] synonym: "Cardiomyopathy, dilated" EXACT [] synonym: "Congestive cardiomyopathy" EXACT [] xref: MeSH:D002311 "Cardiomyopathy, Dilated" xref: UMLS:C0007193 "Cardiomyopathy, Dilated" is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001645 name: Sudden cardiac death alt_id: HP:0005161 def: "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [HPO:probinson] synonym: "Premature sudden cardiac death" EXACT [] xref: MeSH:D016757 "Sudden Cardiac Death" xref: UMLS:C0085298 "Sudden Cardiac Death" xref: UMLS:C1968862 "Premature sudden cardiac death" is_a: HP:0001695 ! Cardiac arrest [Term] id: HP:0001646 name: Abnormality of the aortic valve def: "Any abnormality of the aortic valve." [HPO:curators] is_a: HP:0001654 ! Abnormality of the heart valves property_value: HP:0040005 "Any abnormality of the `aortic valve` (FMA:7236)." xsd:string {xref="HPO:curators"} [Term] id: HP:0001647 name: Bicuspid aortic valve def: "The presence of an aortic valve with two instead of the normal three cusps (flaps)." [HPO:probinson] comment: The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. xref: UMLS:C0149630 "Bicuspid aortic valve" is_a: HP:0001646 ! Abnormality of the aortic valve property_value: HP:0040005 "The presence of an `aortic valve` (FMA:7236) with two instead of the normal three cusps (flaps)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001648 name: Cor pulmonale def: "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [HPO:probinson] comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. xref: UMLS:C0238074 "Cor Pulmonale" is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0001649 name: Tachycardia alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:probinson] synonym: "Elevated heart rate" RELATED [] synonym: "Increased heart rate" RELATED [] synonym: "Rapid heart beat" RELATED [] xref: MeSH:D013610 "Tachycardia" xref: UMLS:C0039231 "Tachycardia" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001650 name: Aortic valve stenosis alt_id: HP:0005140 def: "The presence of a stenosis (narrowing) of the aortic valve." [HPO:probinson] comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. synonym: "Aortic stenosis" EXACT [] synonym: "Valvular aortic stenosis" EXACT [] xref: MeSH:D001024 "Aortic Valve Stenosis" xref: UMLS:C0003507 "Aortic Stenosis" is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001651 name: Dextrocardia def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken] synonym: "Thoracic situs inversus" EXACT [] xref: EPCC:02.01.02 xref: ICD-10:Q24.0 xref: MeSH:D003914 "Dextrocardia" xref: UMLS:C0011813 "Dextrocardia" is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001653 name: Mitral regurgitation def: "An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." [HPO:probinson] synonym: "Mitral incompetence" EXACT [] synonym: "Mitral insufficiency" EXACT [] synonym: "MITRAL REGURGITATION, MILD" RELATED [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] xref: MeSH:D008944 "Mitral Valve Insufficiency" xref: UMLS:C0026266 "Mitral Incompetence" is_a: HP:0001633 ! Abnormality of the mitral valve property_value: HP:0040005 "An `abnormality of the mitral valve` (HP:0001633) characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001654 name: Abnormality of the heart valves alt_id: HP:0001703 def: "An abnormality of a Cardiac valve." [HPO:probinson] synonym: "Valvular abnormality" EXACT [] synonym: "Valvular heart disease" EXACT [] xref: MeSH:D006349 "Heart Valve Diseases" xref: UMLS:C1963123 "Valvular heart disease" is_a: HP:0002564 ! Malformation of the heart and great vessels property_value: HP:0040005 "An abnormality of a `Cardiac valve` (FMA:7110)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001655 name: Patent foramen ovale def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [DDD:dbrown, HPO:probinson] comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. xref: ICD-10:Q21.1 is_a: HP:0001631 ! Defect in the atrial septum [Term] id: HP:0001657 name: Prolonged QT interval def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles. synonym: "Long Q-T syndrome" RELATED [] synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] xref: MeSH:D008133 "Long QT Syndrome" xref: UMLS:C0023976 "Long Q-T syndrome" is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0001658 name: Myocardial infarction def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [HPO:probinson] xref: Mesh:D009203 "Myocardial Infarction" xref: UMLS:C0027051 "Myocardial Infarction" is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001659 name: Aortic regurgitation def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:probinson] synonym: "Aortic insufficiency" EXACT [] synonym: "Aortic valve regurgitation" EXACT [] xref: MeSH:D001022 "Aortic Valve Insufficiency" xref: UMLS:C0003504 "Regurgitation, Aortic Valve" is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001660 name: Truncus arteriosus def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [DDD:dbrown, HPO:probinson] synonym: "Common arterial trunk" EXACT [] synonym: "Persistant truncus arteriosus" RELATED [] xref: ICD-10:Q20.0 xref: MeSH:D014338 "Truncus Arteriosus" xref: UMLS:C0041206 "Truncus Arteriosus" is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001662 name: Bradycardia def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [HPO:probinson] xref: MeSH:D001919 "Bradycardia" xref: UMLS:C0428977 "Bradycardia" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001663 name: Ventricular fibrillation alt_id: HP:0005166 def: "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [HPO:probinson] xref: MeSH:D014693 "Ventricular Fibrillation" xref: UMLS:C1962976 "Ventricular fibrillation" is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001664 name: Torsade de pointes def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [HPO:probinson] synonym: "Torsades de pointes" EXACT [] xref: MeSH:D016171 "Torsade de pointes" xref: UMLS:C1963250 "Torsade de pointes" is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001667 name: Right ventricular hypertrophy def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [HPO:probinson] xref: UMLS:C0232305 "right ventricular hypertrophy" is_a: HP:0001707 ! Abnormality of the right ventricle is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001669 name: Transposition of the great arteries def: "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, HPO:probinson, pmid:10798431] synonym: "Transposition of great vessels" EXACT [] xref: MeSH:D014188 "Transposition of Great Vessels" xref: UMLS:C0040761 "Transposition of Great Vessels" is_a: HP:0011563 ! Abnormal ventriculo-arterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001670 name: Asymmetric septal hypertrophy def: "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray." [HPO:probinson, pmid:17916581] xref: UMLS:C0205700 "Asymmetric Septal Hypertrophy" is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0001671 name: Abnormality of the cardiac septa alt_id: HP:0001690 def: "An anomaly of the intra-atrial or intraventricular septum." [HPO:probinson] synonym: "Heart septal defect" EXACT [] synonym: "Septal defects" EXACT [] is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001673 name: Tachycardia (with pheochromocytoma) is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001674 name: Complete atrioventricular canal defect alt_id: HP:0001689 alt_id: HP:0006697 def: "A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect." [DDD:dbrown, HPO:probinson, pmid:16722604] comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. synonym: "Atrioventricular canal" EXACT [] synonym: "Common atrioventricular canal" EXACT [] synonym: "Complete atrioventricular septal defect" EXACT [] synonym: "Complete common AV canal" EXACT [] xref: UMLS:C0231081 "Atrioventricular canal" is_a: HP:0006695 ! Atrioventricular canal defect [Term] id: HP:0001675 name: Rhythm disturbances associated with pheochromocytoma is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001676 name: Palpitations (with pheochromocytoma) is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001677 name: Coronary artery disease alt_id: HP:0005138 def: "Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [HPO:probinson] synonym: "Coronary disease" EXACT [] xref: MeSH:D003324 "Coronary Artery Disease" xref: UMLS:C0010068 "Coronary Artery Disease" is_a: HP:0002621 ! Atherosclerosis is_a: HP:0006704 ! Abnormality of the coronary arteries is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001678 name: Atrioventricular block alt_id: HP:0001668 alt_id: HP:0005142 alt_id: HP:0006672 def: "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles." [HPO:probinson] synonym: "Atrioventricular nodal disease" RELATED [] xref: MeSH:D054537 "Atrioventricular Block" xref: UMLS:C0004245 "Atrioventricular Block" xref: UMLS:C1841659 "Atrioventricular nodal disease" is_a: HP:0005150 ! Abnormal atrioventricular conduction is_a: HP:0012722 ! Heart block [Term] id: HP:0001679 name: Abnormality of the aorta def: "An abnormality of the aorta." [HPO:probinson] is_a: HP:0011004 ! Abnormality of the systemic arterial tree property_value: HP:0040005 "An abnormality of the `aorta` (FMA:3734)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001680 name: Coarctation of aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [HPO:probinson] comment: Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. synonym: "Aortic coarctation" EXACT [] synonym: "Coaractation of the aorta" EXACT [] synonym: "Coarctation of the aorta" EXACT [] xref: MeSH:D001017 "Aortic Coarctation" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0001681 name: Angina pectoris def: "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia." [HPO:probinson] xref: MeSH:D000787 "Angina Pectoris" xref: UMLS:C0002962 "Angina Pectoris" is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001682 name: Subaortic stenosis def: "A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve." [HPO:probinson] comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. synonym: "Subvalvular aortic stenosis" EXACT [] xref: MeSH:D001020 "Aortic Stenosis, Subvalvular" xref: UMLS:C0340375 "Subaortic stenosis" is_a: HP:0011103 ! Abnormality of the left ventricular outflow tract property_value: HP:0040005 "A fixed form of obstruction to blood flow across the `left-ventricular outflow tract` (FMA:9473) related to stenosis (narrowing) below the level of the aortic valve." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001683 name: Ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [DDD:dbrown] comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). xref: MeSH:D054083 "Ectopia Cordis" xref: UMLS:C0013580 "Ectopia Cordis" is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001684 name: Secundum atrial septal defect alt_id: HP:0200131 def: "A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." [DDD:dbrown, HPO:probinson] synonym: "ATRIAL SEPTAL DEFECT, OSTIUM SECUNDUM TYPE" EXACT [HPO:skoehler] synonym: "Ostium secundum atrial septal defect" EXACT [] synonym: "Patent ostium secundum" EXACT [] xref: ICD-10:Q21.1 xref: UMLS:C0016522 "Secundum atrial septal defect" is_a: HP:0001631 ! Defect in the atrial septum property_value: HP:0040005 "A kind of `atrial septum defect` (HP:0001631) arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum." xsd:string {xref="DDD:dbrown", xref="HPO:probinson"} [Term] id: HP:0001685 name: Myocardial fibrosis xref: UMLS:C0151654 "Myocardial fibrosis" is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001686 name: Loss of voice is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001688 name: Sinus bradycardia alt_id: HP:0005137 def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [HPO:probinson] xref: UMLS:C2108107 "sinus bradycardia" is_a: HP:0001662 ! Bradycardia is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin [Term] id: HP:0001691 name: Muscular subvalvular aortic stenosis def: "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow though the left-ventricular outflow tract." [HPO:probinson] synonym: "Muscular subaortic stenosis" EXACT [] xref: UMLS:C0700053 "MUSCULAR SUBAORTIC STENOSIS" is_a: HP:0001682 ! Subaortic stenosis [Term] id: HP:0001692 name: Primary atrial arrhythmia def: "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance." [DDD:dbrown] synonym: "Atrial arrhythmia" RELATED [] xref: UMLS:C0085611 "Atrial arrhythmias" is_a: HP:0004755 ! Supraventricular tachycardia [Term] id: HP:0001693 name: Cardiac shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [HPO:probinson] xref: UMLS:C0542331 "Shunts" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0001694 name: Right-to-left shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left." [HPO:mhaendel] is_a: HP:0001693 ! Cardiac shunt [Term] id: HP:0001695 name: Cardiac arrest xref: MeSH:D006323 "Heart Arrest" xref: UMLS:C0018790 "Cardiac Arrest" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001696 name: Situs inversus totalis def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson] synonym: "Situs inversus" RELATED [] synonym: "situs oppositus" EXACT [] synonym: "situs transversus" EXACT [] xref: UMLS:C0037221 "Situs inversus viscerum" is_a: HP:0001651 ! Dextrocardia is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments [Term] id: HP:0001697 name: Abnormality of the pericardium def: "An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [HPO:probinson] is_a: HP:0002564 ! Malformation of the heart and great vessels property_value: HP:0040005 "An abnormality of the `pericardium` (FMA:9869), i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001698 name: Pericardial effusion def: "Accumulation of fluid within the pericardium." [HPO:probinson] synonym: "Pericardial effusions" EXACT [] xref: MeSH:D010490 "Pericardial effusion" xref: UMLS:C0031039 "Pericardial effusion" is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001699 name: Sudden death def: "Rapid and unexpected death." [HPO:probinson] xref: MeSH:D003645 "Death, Sudden" is_a: HP:0011420 ! Time of death [Term] id: HP:0001700 name: Myocardial necrosis xref: UMLS:C1442837 "Myocardial necrosis" is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001701 name: Pericarditis def: "Inflammation of the sac-like covering around the heart (pericardium)." [HPO:probinson] xref: MeSH:D010493 "Pericarditis" xref: UMLS:C0031046 "Pericarditis" is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001702 name: Abnormality of the tricuspid valve def: "An abnormality of the tricuspid valve." [HPO:probinson] xref: EPCC:06.01.00 is_a: HP:0006705 ! Abnormality of the atrioventricular valves property_value: HP:0040005 "An abnormality of the `tricuspid valve` (FMA:7234)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001704 name: Tricuspid valve prolapse def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [HPO:probinson] xref: MeSH:D014263 "Tricuspid Valve Prolapse" xref: UMLS:C0040962 "Tricuspid Valve Prolapse" is_a: HP:0001702 ! Abnormality of the tricuspid valve [Term] id: HP:0001705 name: Right ventricular outlet obstruction xref: UMLS:C1849344 "Right ventricular outlet obstruction" is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0001706 name: Endocardial fibroelastosis xref: MeSH:D004695 "Endocardial Fibroelastosis" xref: UMLS:C0014117 "Endocardial Fibroelastosis" is_a: HP:0004306 ! Abnormality of the endocardium [Term] id: HP:0001707 name: Abnormality of the right ventricle def: "An abnormality of the right ventricle of the heart." [HPO:probinson] comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. synonym: "Right ventricular abnormality" EXACT [] xref: UMLS:C0344887 "Right ventricular abnormality" is_a: HP:0001713 ! Abnormality of cardiac ventricle property_value: HP:0040005 "An abnormality of the `right ventricle` (FMA:7098) of the heart." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001708 name: Right ventricular failure def: "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading top pitting peripheral edema, ascites, and hepatomegaly." [HPO:probinson] xref: UMLS:C0235527 "Right ventricular failure" is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0001709 name: Third degree atrioventricular block def: "A form of atrioventricular block in which atrial impulse propagates to the ventricles." [HPO:probinson] synonym: "Complete heart block" EXACT [] synonym: "Third-degree heart block" RELATED [] xref: UMLS:C0151517 "Complete heart block" is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0001710 name: Conotruncal defect def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [HPO:probinson] synonym: "Conotruncal heart defects" EXACT [] xref: UMLS:C1853238 "Conotruncal heart defects" is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001711 name: Abnormality of the left ventricle def: "An abnormality of the left ventricle of the heart." [HPO:probinson] synonym: "Left ventricular abnormality" EXACT [] xref: UMLS:C0344905 "Left ventricular abnormality" is_a: HP:0001713 ! Abnormality of cardiac ventricle property_value: HP:0040005 "An abnormality of the `left ventricle` (FMA:7101) of the heart." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001712 name: Left ventricular hypertrophy alt_id: HP:0005171 synonym: "Left ventricular wall hypertrophy" EXACT [] xref: UMLS:C0149721 "Left Ventricular Hypertrophy" xref: UMLS:C1845018 "Left ventricular wall hypertrophy" is_a: HP:0001711 ! Abnormality of the left ventricle is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001713 name: Abnormality of cardiac ventricle def: "An abnormality of a cardiac ventricle." [HPO:probinson] is_a: HP:0002564 ! Malformation of the heart and great vessels property_value: HP:0040005 "An abnormality of a `cardiac ventricle` (FMA:7100)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001714 name: Ventricular hypertrophy alt_id: HP:0005167 def: "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [HPO:probinson] xref: UMLS:C0340279 "Ventricular hypertrophy" is_a: HP:0001713 ! Abnormality of cardiac ventricle [Term] id: HP:0001716 name: Wolff-Parkinson-White syndrome def: "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway." [HPO:probinson] xref: MeSH:D014927 "Wolff-Parkinson-White Syndrome" xref: UMLS:C0043202 "Wolf-Parkinson-White Syndrome" is_a: HP:0004309 ! Ventricular preexcitation [Term] id: HP:0001717 name: Coronary artery calcification def: "Calcification, that is, pathological deposition of calcium salts, affecting the coronary arteries." [HPO:probinson] xref: UMLS:C1611184 "Coronary artery calcification" is_a: HP:0003207 ! Arterial calcification is_a: HP:0006704 ! Abnormality of the coronary arteries property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts, affecting the `coronary arteries` (FMA:3800)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001718 name: Mitral stenosis alt_id: HP:0005163 def: "Ab abnormal narrowing of the orifice of the mitral valve." [DDD:dbrown] synonym: "Mitral valve stenosis" EXACT [] xref: EPCC:06.02.92 xref: ICD-10:Q23.2 xref: MeSH:D008946 "Mitral Valve Stenosis" xref: UMLS:C0026269 "Mitral Stenosis" is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001719 name: Double outlet right ventricle def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [HPO:probinson, pmid:10798433] comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. synonym: "Double-outlet right ventricle" EXACT [] xref: MeSH:D004310 "Double Outlet Right Ventricle" xref: UMLS:C0013069 "Double Outlet Right Ventricle" is_a: HP:0001710 ! Conotruncal defect is_a: HP:0011723 ! Congenital malformation of the right heart [Term] id: HP:0001722 name: High-output congestive heart failure def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [HPO:curators] is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0001723 name: Restrictive cardiomyopathy def: "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness." [HPO:probinson, pmid:17916581] comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. xref: MeSH:D002313 "Cardiomyopathy, Restrictive" xref: UMLS:C1963079 "Restrictive cardiomyopathy" is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001724 name: Aortic dilatation xref: UMLS:C0265004 "AORTA DILATION" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0001726 name: Increased prevalence of valvular disease is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001727 name: Thromboembolic stroke def: "A cerebrovascular accident (stroke) that occurs because of thromboembolism." [HPO:probinson] is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001730 name: Progressive hearing impairment alt_id: HP:0008590 def: "A progressive form of hearing impairment." [HPO:probinson] synonym: "Progressive hearing loss" EXACT [] xref: UMLS:C1842138 "Progressive hearing loss" is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "A `progressive` (PATO:0001818) form of `hearing impairment` (HP:0000365)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001732 name: Abnormality of the pancreas def: "An abnormality of the pancreas." [HPO:probinson] synonym: "Pancreatic disease" RELATED [] is_a: HP:0002012 ! Abnormality of the abdominal organs property_value: HP:0040005 "An abnormality of the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001733 name: Pancreatitis def: "The presence of inflammation in the pancreas." [HPO:probinson] xref: MeSH:D010195 "Pancreatitis" xref: UMLS:C0030305 "Pancreatitis" is_a: HP:0012091 ! Abnormality of pancreas physiology property_value: HP:0040005 "The presence of `inflammation` (MPATH:212) in the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001734 name: Annular pancreas def: "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [HPO:probinson] xref: UMLS:C0149955 "Annular pancreas" is_a: HP:0012090 ! Abnormality of pancreas morphology [Term] id: HP:0001735 name: Acute pancreatitis alt_id: HP:0004512 def: "A acute form of pancreatitis." [HPO:probinson] synonym: "Pancreatitis, acute" EXACT [] is_a: HP:0001733 ! Pancreatitis property_value: HP:0040005 "A `acute` (PATO:0000389) form of `pancreatitis` (HP:0001733)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001737 name: Pancreatic cysts def: "A cyst of the pancreas that possess a lining of mucous epithelium." [HPO:probinson] comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. synonym: "Multiple pancreatic cysts" RELATED [] synonym: "Pancreatic cyst" RELATED [] xref: MeSH:D010181 "Pancreatic Cyst" xref: UMLS:C0030283 "Pancreatic cysts" is_a: HP:0012090 ! Abnormality of pancreas morphology [Term] id: HP:0001738 name: Exocrine pancreatic insufficiency alt_id: HP:0002581 alt_id: HP:0004508 alt_id: HP:0004509 def: "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [HPO:probinson] synonym: "Pancreatic insufficiency" RELATED [] xref: MeSH:D010188 "Exocrine Pancreatic Insufficiency" xref: UMLS:C0267963 "Pancreatic Insufficiency" is_a: HP:0012092 ! Abnormality of exocrine pancreas physiology [Term] id: HP:0001739 name: Abnormality of the nasopharynx comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0001741 name: Phimosis def: "The male foreskin cannot be fully retracted from the head of the penis." [HPO:sdoelken] xref: MeSH:D010688 "Phimosis" xref: UMLS:C0345326 "Phimosis" is_a: HP:0100587 ! Abnormality of the preputium [Term] id: HP:0001742 name: Nasal obstruction def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [HPO:probinson] xref: MeSH:D015508 "Nasal Obstruction" is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001743 name: Abnormality of the spleen def: "An abnormality of the spleen." [HPO:probinson] comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: HP:0040005 "An abnormality of the `spleen` (FMA:7196)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001744 name: Splenomegaly alt_id: HP:0001745 alt_id: HP:0006269 def: "Abnormal increased size of the spleen." [HPO:probinson] xref: MeSH:D013163 "Splenomegaly" xref: UMLS:C0038002 "Splenomegaly" is_a: HP:0001743 ! Abnormality of the spleen is_a: HP:0003271 ! Visceromegaly property_value: HP:0040005 "Abnormal `increased size` (PATO:0000586) of the `spleen` (FMA:7196)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001746 name: Asplenia def: "Absence (aplasia) of the spleen." [HPO:curators] xref: UMLS:C0600031 "Asplenia" is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen property_value: HP:0040005 "Absence (aplasia) of the `spleen` (FMA:7196)." xsd:string {xref="HPO:curators"} [Term] id: HP:0001747 name: Accessory spleen def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:probinson] xref: UMLS:C0266631 "Supernumerary spleen" is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001748 name: Polysplenia alt_id: HP:0001749 alt_id: HP:0006271 alt_id: HP:0006272 def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] synonym: "Accessory spleens" EXACT [] synonym: "Multiple accessory spleens" EXACT [] xref: UMLS:C1856659 "Multiple accessory spleens" is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001750 name: Single ventricle xref: UMLS:C0152424 "Single ventricle" is_a: HP:0001713 ! Abnormality of cardiac ventricle [Term] id: HP:0001751 name: Vestibular dysfunction alt_id: HP:0006917 alt_id: HP:0007921 def: "An abnormality of the functioning of the vestibular apparatus." [HPO:probinson] comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. synonym: "Impaired vestibular function" EXACT [] synonym: "Interictal vestibular dysfunction" EXACT [] synonym: "Vestibular function defect" EXACT [] xref: UMLS:C1843865 "Vestibular dysfunction" is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0001756 name: Vestibular hypofunction def: "Reduced functioning of the vestibular apparatus." [HPO:probinson] xref: UMLS:C1848606 "Vestibular hypofunction" is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0001757 name: High-frequency sensorineural hearing impairment def: "A form of sensorineural hearing impairment that affects primarily the higher frequencies." [HPO:probinson] synonym: "High frequency sensorineural hearing impairment" EXACT [] synonym: "High-tone sensorineural deafness" EXACT [] synonym: "High-tone sensorineural hearing impairment" EXACT [] xref: UMLS:C1835182 "High-tone sensorineural deafness" is_a: HP:0000407 ! Sensorineural hearing impairment property_value: HP:0040005 "A form of `sensorineural hearing impairment` (HP:0008538) that affects primarily the higher frequencies." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001760 name: Abnormality of the foot alt_id: HP:0010216 alt_id: HP:0010611 def: "An abnormality of the skeleton of foot." [HPO:probinson] comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. synonym: "Abnormal feet morphology" EXACT [] synonym: "Abnormality of the feet" EXACT [] synonym: "Foot deformities" EXACT [] synonym: "Foot deformity" EXACT [] xref: UMLS:C0016506 "Foot Deformity" is_a: HP:0002814 ! Abnormality of the lower limb property_value: HP:0040005 "An abnormality of the `skeleton of foot` (FMA:24222)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001761 name: Pes cavus def: "The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, pmid:19125433] subset: hposlim_core xref: MEDRA:10034743 "Pes cavus" xref: SNOMEDCT:249802001 "Pes cavus" xref: UMLS:C0728829 "Pes cavus" is_a: HP:0001760 ! Abnormality of the foot property_value: HP:0040005 "The presence of an unusually high `plantar arch` (FMA:43942). Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} [Term] id: HP:0001762 name: Talipes equinovarus def: "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson] comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. subset: hposlim_core synonym: "Club feet" EXACT [] synonym: "Club foot" EXACT [] synonym: "Clubfeet" EXACT [] synonym: "Clubfoot" EXACT [] synonym: "Equinovarus" EXACT [] synonym: "Foot, talipes equinovarus" EXACT [] synonym: "Pes equinovarus" EXACT [] synonym: "Pes equinus" EXACT [] xref: MEDRA:10043106 "Talipes equinovarus, congenital" xref: MeSH:D003025 "Clubfoot" xref: UMLS:C0009081 "Talipes Equinovarus" is_a: HP:0001883 ! Talipes [Term] id: HP:0001763 name: Pes planus def: "A foot where the plantar arch is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Dropped arches" RELATED [] synonym: "Fallen arches" RELATED [] synonym: "Flat feet" EXACT [] xref: MeSH:D005413 "Flatfoot" xref: SNOMEDCT:53226007 "Pes planus" xref: UMLS:C0016202 "Flatfoot" xref: UMLS:C0264133 "Pes planus" is_a: HP:0001760 ! Abnormality of the foot property_value: HP:0040005 "A foot where the `plantar arch` (FMA:43942) is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} [Term] id: HP:0001765 name: Hammertoe def: "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [pmid:19125433] subset: hposlim_core synonym: "Hammer toe" EXACT [] synonym: "Hammertoes" EXACT [] xref: MeSH:D037801 "Hammer Toe Syndrome" xref: UMLS:C2239184 "hammer toe" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001769 name: Broad foot def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [pmid:19125433] subset: hposlim_core synonym: "Broad feet" EXACT [] xref: UMLS:C1866241 "Broad feet" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001770 name: Toe syndactyly alt_id: HP:0001828 alt_id: HP:0005677 def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as \"Symphalangism\"." [HPO:curators] synonym: "Syndactyly (feet)" EXACT [] synonym: "Syndactyly of toes" EXACT [] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001159 ! Syndactyly is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001771 name: Achilles tendon contracture alt_id: HP:0004711 alt_id: HP:0005031 alt_id: HP:0006430 def: "A contracture of the Achilles tendon." [HPO:probinson] synonym: "ACHILLES TENDON CONTRACTURES" EXACT [HPO:skoehler] synonym: "Contractures of the Achilles tendon" EXACT [] synonym: "Shortening of the achilles tendon" EXACT [] synonym: "Tight achilles tendon" EXACT [] xref: UMLS:C1857538 "Tight Achilles tendon" is_a: HP:0005109 ! Abnormality of the Achilles tendon is_a: HP:0008366 ! Contractures involving the joints of the feet property_value: HP:0040005 "A contracture of the `Achilles tendon` (FMA:51061)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001772 name: Talipes equinovalgus def: "A deformity of foot and ankle in which the foot is bent down and outwards." [HPO:probinson] synonym: "Equinovalgus deformity" RELATED [] xref: UMLS:C0265642 "Talipes equinovalgus" is_a: HP:0001883 ! Talipes [Term] id: HP:0001773 name: Short foot alt_id: HP:0001764 alt_id: HP:0001766 alt_id: HP:0001778 alt_id: HP:0008135 def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [HPO:probinson, pmid:19125433] synonym: "Hypoplastic feet" EXACT [] synonym: "Short feet" EXACT [] synonym: "Small feet" EXACT [] xref: UMLS:C0576224 "Small feet" xref: UMLS:C1848673 "Hypoplastic feet" is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001775 name: Tarsal osteovalgus xref: UMLS:C1550316 "Tarsal" is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001776 name: Bilateral talipes equinovarus def: "Bilateral clubfoot deformity (see HP:0001762)." [HPO:probinson] synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] xref: UMLS:C1844847 "Bilateral club feet" is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001780 name: Abnormality of toe def: "An anomaly of a toe." [HPO:probinson] subset: hposlim_core synonym: "Abnormalities of the toes" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0011297 ! Abnormality of digit property_value: HP:0040005 "An anomaly of a `toe` (FMA:25046)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001782 name: Bulbous tips of toes def: "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous." [HPO:probinson] xref: UMLS:C1839520 "'Tree-frog' feet" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001783 name: Broad metatarsal alt_id: HP:0005907 alt_id: HP:0008106 def: "Increased side-to-side width of a metatarsal bone." [HPO:probinson] synonym: "Broad metatarsals" RELATED [] synonym: "Widened metatarsal shaft" RELATED [] xref: UMLS:C1842231 "Broad metatarsals" xref: UMLS:C1850161 "Widened metatarsal shaft" is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0001785 name: Ankle swelling xref: UMLS:C0235439 "Ankle swelling" is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0001786 name: Narrow foot def: "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [pmid:19125433] subset: hposlim_core synonym: "Slender feet" EXACT [] xref: SNOMEDCT:299464006 "Narrow foot" xref: UMLS:C0576227 "Narrow foot" xref: UMLS:C1833151 "Slender feet" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001787 name: Abnormal delivery def: "An abnormality of the birth process." [HPO:probinson] xref: UMLS:C0549629 "Abnormal delivery" is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001788 name: Premature rupture of membranes alt_id: HP:0002163 def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [HPO:probinson] is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001789 name: Hydrops fetalis def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [HPO:probinson] comment: The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. xref: MeSH:D015160 "Hydrops fetalis" xref: UMLS:C0020305 "Hydrops Fetalis" is_a: HP:0000969 ! Edema is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001790 name: Nonimmune hydrops fetalis def: "A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens ." [HPO:probinson] synonym: "Hydrops fetalis, non-immune" EXACT [] synonym: "Hydrops fetalis, nonimmune" EXACT [] synonym: "Non-immune fetal hydrops" EXACT [] synonym: "Nonimmune hydrops" EXACT [] xref: UMLS:C0455988 "Hydrops Fetalis, Non-Immune" is_a: HP:0001789 ! Hydrops fetalis property_value: HP:0040005 "A type of `hydrops fetalis` (HP:0001789) in which there is no identifiable circulating antibody to red blood cell antigens ." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001791 name: Fetal ascites def: "Accumulation of fluid in the peritoneal cavity during the fetal period." [HPO:probinson] xref: UMLS:C1285291 "Fetal ascites" is_a: HP:0001197 ! Abnormality of prenatal development or birth is_a: HP:0001541 ! Ascites [Term] id: HP:0001792 name: Small nail alt_id: HP:0001813 def: "A nail that is diminished in length and width, i.e., underdeveloped nail." [HPO:probinson, pmid:19125433] synonym: "Hypoplastic nail" EXACT [] synonym: "Hypoplastic nails" EXACT [] synonym: "Nail hypoplasia" EXACT [] synonym: "Small nails" EXACT [] xref: UMLS:C0240439 "Nail hypoplasia" is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails property_value: HP:0040005 "A nail that is diminished in length and width, i.e., underdeveloped `nail` (FMA:54326)." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} [Term] id: HP:0001795 name: Hyperconvex nail alt_id: HP:0008413 def: "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433] comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. subset: hposlim_core synonym: "Nail overcurvature" EXACT [] xref: UMLS:C0221260 "Dystrophic nails" xref: UMLS:C1846074 "Hyperconvex nails" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001798 name: Anonychia alt_id: HP:0007593 alt_id: HP:0008384 def: "Aplasia of the nail." [HPO:probinson] comment: Total absence of nails. subset: hposlim_core synonym: "Absent nails" EXACT [] synonym: "Aplastic nails" EXACT [] xref: UMLS:C0265998 "ANONYCHIA" is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails property_value: HP:0040005 "`Aplasia` (MPATH:58) of the `nail` (FMA:54326)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001799 name: Short nail alt_id: HP:0200075 def: "Decreased length of nail." [pmid:19125433] comment: Use this designation when the length is reduced but the width is normal. subset: hposlim_core xref: UMLS:C0423808 "Short nails" is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001800 name: Hypoplastic toenails def: "Underdevelopment of the toenail." [HPO:probinson] xref: UMLS:C1837279 "Hypoplastic toenails" is_a: HP:0001792 ! Small nail is_a: HP:0010624 ! Aplastic/hypoplastic toenail property_value: HP:0040005 "Underdevelopment of the `toenail`(FMA:54328)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001802 name: Absent toenail def: "Congenital absence of the toenail." [HPO:probinson] subset: hposlim_core synonym: "Absent toenails" RELATED [] synonym: "ABSENT TOENAILS (ANONYCHIA)" RELATED [HPO:skoehler] synonym: "ANONYCHIA OF TOENAILS" RELATED [HPO:skoehler] xref: UMLS:C1844555 "Absent toenails" is_a: HP:0001798 ! Anonychia is_a: HP:0010624 ! Aplastic/hypoplastic toenail property_value: HP:0040005 "Congenital absence of the `toenail`(FMA:54328)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001803 name: Nail pits def: "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [pmid:19125433] subset: secondary_consequence synonym: "Nail pitting" EXACT [] synonym: "Pitted nails" EXACT [] xref: MEDRA:10028702 "Nail pitting" xref: SNOMEDCT:89704006 "Pitting of nails" xref: UMLS:C0150993 "Pitted nails" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001804 name: Hypoplastic fingernail def: "Underdevelopment of a fingernail." [HPO:curators] xref: UMLS:C1856786 "Hypoplastic fingernails" is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0001792 ! Small nail property_value: HP:0040005 "Underdevelopment of a `fingernail`(FMA:54327)." xsd:string {xref="HPO:curators"} [Term] id: HP:0001805 name: Thick nail alt_id: HP:0001819 alt_id: HP:0200088 def: "Nail that appears thick when viewed on end." [pmid:19125433] comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity. synonym: "Dystrophic thickened nails" EXACT [] synonym: "Onychogryposis" EXACT [] synonym: "Thickened nails" EXACT [] xref: UMLS:C0240444 "Thickened nails" xref: UMLS:C0263537 "Onychogryphosis" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001806 name: Onycholysis def: "Detachment of the nail from the nail bed." [HPO:probinson] subset: hposlim_core synonym: "Oncholysis" EXACT [] xref: MEDRA:10030337 "Onycholysis" xref: MeSH:D054039 "Onycholysis" xref: UMLS:C0085661 "Onycholysis" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001807 name: Ridged nail alt_id: HP:0001801 alt_id: HP:0001811 def: "Longitudinal, linear prominences in the nail plate." [pmid:19125433] comment: There may be only one, or several ridges. The affected digits should be specified. subset: hposlim_core synonym: "Grooved nails" EXACT [] synonym: "Longitudinal ridging" EXACT [] synonym: "Nail ridging" EXACT [] synonym: "RIDGED NAILS" RELATED [HPO:skoehler] xref: UMLS:C0423818 "Grooved nails" xref: UMLS:C0423820 "Nail ridging" xref: UMLS:C1844641 "Longitudinal ridging" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001808 name: Fragile nails alt_id: HP:0001796 def: "Nails that easily break." [HPO:probinson] synonym: "Brittle nails" EXACT [] xref: UMLS:C1856963 "Fragile nails" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001809 name: Split nail def: "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." [pmid:19125433] comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. synonym: "Longitudinal splitting of nail" EXACT [] xref: UMLS:C1844642 "Longitudinal splitting" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001810 name: Dystrophic toenail alt_id: HP:0007558 def: "Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate." [HPO:probinson] synonym: "Dystrophic toenail changes" EXACT [] synonym: "Dystrophic toenails" RELATED [] xref: UMLS:C1858546 "Dystrophic toenails" is_a: HP:0008388 ! Abnormality of the toenails is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0001812 name: Hyperconvex fingernails alt_id: HP:0008380 def: "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433] synonym: "Tubular fingernails" EXACT [] xref: UMLS:C1844825 "Hyperconvex fingernails" is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0001814 name: Deep-set nails def: "Deeply placed nails." [HPO:probinson] is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001816 name: Thin nail def: "Nail that appears thin when viewed on end." [HPO:probinson, pmid:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. subset: hposlim_core synonym: "Thin nails" EXACT [] xref: UMLS:C0423823 "Thin nails" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001817 name: Absent fingernail def: "Absence of a fingernail." [HPO:probinson] subset: hposlim_core synonym: "ANONYCHIA OF FINGERNAILS" RELATED [HPO:skoehler] xref: UMLS:C1844554 "Absent fingernails" is_a: HP:0001798 ! Anonychia property_value: HP:0040005 "Absence of a `fingernail`(FMA:54327)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001818 name: Paronychia def: "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [HPO:probinson] subset: hposlim_core xref: MEDRA:10034016 "Paronychia" xref: MeSH:D010304 "Paronychia" xref: SNOMEDCT:71906005 "Paronychia" xref: UMLS:C0030578 "Paronychia" is_a: HP:0100803 ! Abnormality of the periungual region [Term] id: HP:0001820 name: Leukonychia def: "White discoloration of the nails." [HPO:probinson] xref: MEDRA:10050658 "Leukonychia" xref: SNOMEDCT:111202002 "Leukonychia" xref: UMLS:C0240182 "Leuconychia" is_a: HP:0100643 ! Abnormality of nail color property_value: HP:0040005 "White discoloration of the `nails` (FMA:54326)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001821 name: Broad nail alt_id: HP:0008406 def: "Increased width of nail." [HPO:probinson] synonym: "Broad fingernails" EXACT [] synonym: "Wide fingernails" EXACT [] xref: UMLS:C1843112 "Broad fingernails" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001822 name: Hallux valgus alt_id: HP:0004682 def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] synonym: "Lateral deviation of great toe" EXACT [] synonym: "Lateral deviation of halluces" EXACT [] xref: MeSH:D006215 "Hallux Valgus" xref: UMLS:C0018536 "Hallux Valgus" is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0001824 name: Weight loss def: "Reduction inexisting body weight." [HPO:probinson] xref: MeSH:D015431 "Weight Loss" xref: UMLS:C0043096 "Decreased body weight" is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001827 name: Genital tract atresia alt_id: HP:0001534 def: "Congenital occlusion of a tube in the genital tract." [HPO:probinson] is_a: HP:0012243 ! Abnormal genital system morphology created_by: peter creation_date: 2008-02-27T04:08:00Z [Term] id: HP:0001829 name: Foot polydactyly alt_id: HP:0009135 def: "A kind of polydactyly characterized by the presence of a supernumerary toe or toes." [HPO:probinson] subset: hposlim_core synonym: "Duplication of bones of the toes" EXACT [] synonym: "Polydactyly (feet)" EXACT [] synonym: "Polydactyly of the foot" EXACT [] is_a: HP:0001780 ! Abnormality of toe is_a: HP:0009136 ! Duplication involving bones of the feet is_a: HP:0010442 ! Polydactyly property_value: HP:0040005 "A kind of `polydactyly` (HP:0010442) characterized by the presence of a supernumerary toe or toes." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001830 name: Postaxial foot polydactyly alt_id: HP:0010346 def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators] comment: The modifier postaxial means that the supernumerary digit is not a hallux. synonym: "Fibular polydactyly" RELATED [] synonym: "Polydactyly affecting the 5th toe" EXACT [] synonym: "Postaxial polydactyly of feet" EXACT [] synonym: "Postaxial polydactyly of foot" EXACT [] synonym: "Posterior polydactyly of foot" EXACT [] is_a: HP:0001829 ! Foot polydactyly is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001831 name: Short toe alt_id: HP:0001767 alt_id: HP:0001781 alt_id: HP:0001855 alt_id: HP:0004701 alt_id: HP:0005889 alt_id: HP:0008099 def: "A toe that appears disproportionately short compared to the foot." [HPO:probinson] comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. subset: hposlim_core synonym: "Brachydactyly of the foot" EXACT [] synonym: "Hypoplasia of the toe" EXACT [] synonym: "Hypoplastic or dysplastic toes" EXACT [] synonym: "Hypoplastic toes" EXACT [] synonym: "Short phalanges (feet)" EXACT [] synonym: "Short toes" EXACT [] xref: UMLS:C1835156 "Hypoplastic toes" is_a: HP:0001991 ! Aplasia/Hypoplasia of toe is_a: HP:0011927 ! Short digit property_value: HP:0040005 "A `toe` (FMA:25046) that appears disproportionately short compared to the foot." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001832 name: Abnormality of the metatarsal bones def: "Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [HPO:probinson] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0040069 ! Abnormality of lower limb bone property_value: HP:0040005 "Abnormalities of the `metatarsal bones` (FMA:24492) (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001833 name: Long foot alt_id: HP:0008136 alt_id: HP:0008143 def: "Increased back to front length of the foot." [UHPO:probinson] subset: hposlim_core synonym: "Disproportionately large feet" EXACT [] synonym: "large feet" EXACT [] synonym: "long feet" EXACT [] xref: UMLS:C1837801 "Large feet" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001836 name: Camptodactyly of toe def: "Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes." [HPO:probinson] synonym: "Camptodactyly (feet)" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0012385 ! Camptodactyly is_a: HP:0100492 ! Joint contractures involving the joints of the feet [Term] id: HP:0001837 name: Broad toe def: "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." [pmid:19125433] comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. subset: hposlim_core xref: UMLS:C1865038 "Broad toes" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001838 name: Rocker bottom foot alt_id: HP:0001835 alt_id: HP:0004693 alt_id: HP:0010218 def: "The presence of both a prominent heel and a convex contour of the sole." [HPO:probinson, pmid:19125433] comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. subset: hposlim_core synonym: "Congenital vertical talus" EXACT [] synonym: "Rocker bottom feet" EXACT [] synonym: "Rocker-bottom feet" EXACT [] synonym: "Rockerbottom feet" EXACT [] xref: MEDRA:10066242 "Vertical talus" xref: UMLS:C0431979 "Congenital vertical talus" is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001839 name: Split foot alt_id: HP:0003062 alt_id: HP:0005904 def: "A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet." [HPO:sdoelken] subset: hposlim_core synonym: "Ectrodactyly (feet)" EXACT [] synonym: "Lobster-claw foot deformity" EXACT [] synonym: "Split-foot" EXACT [] xref: SNOMEDCT:205358006 "Split foot" xref: UMLS:C0432028 "Split foot" is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001840 name: Metatarsus adductus alt_id: HP:0001768 alt_id: HP:0010217 def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [HPO:probinson, pmid:19125433] comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. subset: hposlim_core synonym: "Forefoot varus" EXACT [] synonym: "Intoe" RELATED [] synonym: "Metatarsus adductovarsus" EXACT [] synonym: "Metatarsus varus" EXACT [] xref: SNOMEDCT:23568008 "Metatarsus adductus" xref: UMLS:C0265647 "Metatarsus varus" xref: UMLS:C0265648 "Metatarsus adductus" is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0001841 name: Preaxial foot polydactyly alt_id: HP:0009607 alt_id: HP:0010050 def: "Duplication of all or part of the first ray." [HPO:probinson, pmid:19125433] comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. synonym: "Partial/complete duplication of the phalanges of the big toe" EXACT [HPO:curators] synonym: "Polydactyly affecting the hallux" EXACT [] synonym: "Preaxial hallucal polydactyly" EXACT [] synonym: "Preaxial polydactyly (feet)" EXACT [] synonym: "Preaxial polydactyly of feet" EXACT [] synonym: "Preaxial polydactyly of foot" EXACT [] synonym: "Preaxial polydactyly of the feet" EXACT [HPO:curators] synonym: "Preaxial polydactyly, feet" EXACT [] xref: UMLS:C1866339 "PREAXIAL HALLUCAL POLYDACTYLY" is_a: HP:0001829 ! Foot polydactyly is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001842 name: Acroosteolysis (feet) is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes [Term] id: HP:0001844 name: Abnormality of the hallux def: "This term applies for all abnormalities of the big toe, also called hallux." [HPO:probinson] subset: hposlim_core synonym: "Abnormalities of the hallux" EXACT [] is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001845 name: Overlapping toe def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest." [HPO:probinson, pmid:19125433] comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. subset: hposlim_core synonym: "Crossover toe" RELATED [] synonym: "OVERLAPPING TOES" EXACT [HPO:skoehler] synonym: "Overriding toes" EXACT [] xref: UMLS:C0920299 "Crossover toe" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001847 name: Long hallux alt_id: HP:0001867 def: "Increased length of the big toe." [HPO:probinson] subset: hposlim_core synonym: "Increased length of the hallux" EXACT [] synonym: "Large halluces" EXACT [] synonym: "Long halluces" EXACT [] is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010511 ! Long toe property_value: HP:0040005 "Increased length of the `big toe` (FMA:25047)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001848 name: Calcaneovalgus deformity alt_id: HP:0001774 alt_id: HP:0008120 def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [HPO:probinson] comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. synonym: "Calcaneovalgus" EXACT [] synonym: "Calcaneovalgus Foot" EXACT [] synonym: "Valgus position of the calcaneus" EXACT [] xref: UMLS:C1866492 "Calcaneovalgus deformities" is_a: HP:0008119 ! Deformed tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0001849 name: Oligodactyly (feet) alt_id: HP:0001777 def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:probinson] subset: hposlim_core synonym: "Missing toes" EXACT [] synonym: "Oligodactyly of feet" EXACT [] xref: UMLS:C2144104 "Missing toes" is_a: HP:0010760 ! Absent toe is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001850 name: Abnormality of the tarsal bones def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [HPO:curators] synonym: "ABNORMAL TARSALS" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0040069 ! Abnormality of lower limb bone [Term] id: HP:0001852 name: Sandal gap def: "A widely spaced gap between the first toe (the great toe) and the second toe." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Gap between 1st and 2nd toes" EXACT [] synonym: "Gap between first and second toe" EXACT [] synonym: "Increased space between first and second toes" EXACT [] synonym: "Sandal gap between first and second toes" EXACT [] synonym: "Space between great toe and second toe" EXACT [] synonym: "Wide space between 1st, 2nd ties" EXACT [] synonym: "Wide space between first and second toes" EXACT [] synonym: "Widely spaced 1st-2nd toes" EXACT [] synonym: "Widely spaced first and second toes" EXACT [] synonym: "Widened gap 1st-2nd toes" EXACT [] synonym: "Widened gap first and second toe" EXACT [] xref: UMLS:C1859769 "Widened gap 1st-2nd toes" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001853 name: Bifid distal phalanx of toe alt_id: HP:0005615 synonym: "Bifid distal phalanges of toes" EXACT [] synonym: "Bifid terminal phalanx of toe" EXACT [] is_a: HP:0009136 ! Duplication involving bones of the feet [Term] id: HP:0001854 name: Gout (feet) def: "Gout affecting the Metatarsophalangeal joint of big toe." [HPO:sdoelken] synonym: "Podagra" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0001997 ! Gout property_value: HP:0040005 "`Gout` (HP:0001997) affecting the `Metatarsophalangeal joint of big toe`." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0001857 name: Short distal phalanx of toe def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe." [pmid:19125433] comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. synonym: "Hypoplastic distal phalanges (feet)" EXACT [] is_a: HP:0001831 ! Short toe is_a: HP:0005035 ! Shortening of all phalanges of the toes is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes property_value: HP:0040005 "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short `distal phalanx of toe` (FMA:75830)." xsd:string {xref="pmid:19125433"} [Term] id: HP:0001859 name: Distal symphalangism (feet) alt_id: HP:0100236 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001862 name: Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) is_a: HP:0001868 ! Autoamputation (feet) is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001863 name: Toe clinodactyly def: "Bending or curvature of a toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Clinodactyly of feet" EXACT [] is_a: HP:0030084 ! Clinodactyly is_a: HP:0100498 ! Deviation of toes property_value: HP:0040005 "Bending or curvature of a `toe` (FMA:25046) in the tibial direction (i.e., towards the big toe)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001864 name: Clinodactyly of the 5th toe def: "Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] xref: UMLS:C1861397 "Fifth toe clinodactyly" is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010344 ! Deviation of the 5th toe property_value: HP:0040005 "Bending or curvature of a `fifth toe` (FMA:25053) in the tibial direction (i.e., towards the big toe)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001868 name: Autoamputation (feet) is_a: HP:0001218 ! Autoamputation is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001869 name: Deep plantar creases def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot." [HPO:probinson] xref: UMLS:C1857953 "Deep plantar creases" is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: HP:0040005 "The presence of unusually deep creases (ridges/wrinkles) on the `skin of sole of foot` (FMA:37849)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001870 name: Acroosteolysis of distal phalanges (feet) is_a: HP:0001842 ! Acroosteolysis (feet) is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes [Term] id: HP:0001871 name: Abnormality of blood and blood-forming tissues alt_id: HP:0003135 def: "An abnormality of the hematopoietic system." [HPO:probinson] comment: The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. synonym: "Abnormality of the haematopoietic system" RELATED [] synonym: "Abnormality of the hematopoietic system" EXACT [] synonym: "Hematologic disease" RELATED [] synonym: "Hematological abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `hematopoietic system` (FMA:9667)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001872 name: Abnormality of thrombocytes alt_id: HP:0004807 alt_id: HP:0005554 def: "An abnormality of platelets." [HPO:probinson] comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. synonym: "Blood platelet disease" RELATED [] synonym: "Platelet abnormalities" EXACT [] synonym: "Thrombasthenia" RELATED [] xref: MeSH:D013915 "Thrombasthenia" xref: UMLS:C0040015 "Thrombasthenia" xref: UMLS:C0151854 "Abnormal platelets" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: HP:0040005 "An abnormality of `platelets` (CL:0000233)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001873 name: Thrombocytopenia alt_id: HP:0001906 alt_id: HP:0004838 alt_id: HP:0008175 alt_id: HP:0008268 alt_id: HP:0008302 def: "A reduction in the number of circulating thrombocytes." [HPO:probinson] comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). synonym: "Low platelet count" EXACT [] xref: MeSH:D013921 "Thrombocytopenia" is_a: HP:0011873 ! Abnormal platelet count property_value: HP:0040005 "A reduction in the number of circulating `thrombocytes` (CL:0000762)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001874 name: Abnormality of neutrophils def: "A neutrophil abnormality." [HPO:probinson] comment: Neutrophils are granular leukocytes with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. synonym: "Abnormality of polymorphonuclear neutrophils" EXACT [] is_a: HP:0001911 ! Abnormality of granulocytes property_value: HP:0040005 "A `neutrophil` (CL:0000775) abnormality." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001875 name: Neutropenia alt_id: HP:0005515 alt_id: HP:0005533 def: "An abnormally low number of neutrophils in the peripheral blood." [HPO:probinson] comment: Mild neutropenia is defined as an absolute neutrophil cont between 1000 and 1500 cells per microliter, moderte as between 500 and 100, and severe as less than 500 cells. synonym: "Peripheral neutropenia" EXACT [] xref: MeSH:D009503 "Neutropenia" xref: UMLS:C0027947 "Neutropenia" is_a: HP:0011991 ! Abnormal neutrophil cell number property_value: HP:0040005 "An abnormally low number of `neutrophils` (CL:0000775) in the peripheral `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001876 name: Pancytopenia def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [HPO:probinson] xref: MeSH:D010198 "Pancytopenia" xref: UMLS:C0030312 "Pancytopenia" is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001877 name: Abnormality of erythrocytes alt_id: HP:0010973 def: "An abnormality of erythrocytes (red-blood cells)." [HPO:probinson] synonym: "Abnormality of erythroid lineage cell" RELATED [] synonym: "Abnormality of red blood cells" EXACT [] is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0012130 ! Abnormality of cells of the erythroid lineage property_value: HP:0040005 "An abnormality of `erythrocytes` (CL:0000232) (red-blood cells)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001878 name: Hemolytic anemia alt_id: HP:0001910 alt_id: HP:0004827 alt_id: HP:0004853 alt_id: HP:0004868 alt_id: HP:0005503 def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [HPO:probinson] comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. synonym: "Haemolytic anaemia" EXACT [] synonym: "Increased hemolysis" EXACT [] xref: MeSH:D000743 "Anemia, Hemolytic" xref: UMLS:C0002878 "Anemia, Hemolytic" is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0001879 name: Abnormality of eosinophils def: "An eosinophil abnormality." [HPO:probinson] is_a: HP:0001911 ! Abnormality of granulocytes property_value: HP:0040005 "An `eosinophil` (CL:0000771) abnormality." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001880 name: Eosinophilia def: "Increased count of eosinophils in the blood." [HPO:sdoelken] xref: MeSH:D004802 "Eosinophilia" xref: UMLS:C0014457 "Eosinophilia" is_a: HP:0001879 ! Abnormality of eosinophils is_a: HP:0001913 ! Granulocytopenia is_a: HP:0001974 ! Leukocytosis property_value: HP:0040005 "Increased count of `eosinophils` (CL:0000771) in the `blood` (FMA:9670)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0001881 name: Abnormality of leukocytes def: "An abnormality of leukocytes." [HPO:probinson] comment: Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. synonym: "Abnormal leukocyte function" EXACT [] xref: UMLS:C1856364 "Abnormal leukocyte function" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0010987 ! Abnormality of cellular immune system property_value: HP:0040005 "An abnormality of `leukocytes` (CL:0000738)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001882 name: Leukopenia def: "An abnormal decreased number of leukocytes in the blood." [HPO:probinson] xref: MeSH:D007970 "Leukopenia" xref: UMLS:C0023530 "Leukopenia" is_a: HP:0011893 ! Abnormal leukocyte count property_value: HP:0040005 "An abnormal decreased number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001883 name: Talipes def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [HPO:sdoelken] comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down. synonym: "TALIPES FOOT DEFORMITIES" RELATED [HPO:skoehler] xref: UMLS:C1301937 "Talipes" is_a: HP:0005656 ! Positional foot deformity [Term] id: HP:0001884 name: Talipes calcaneovalgus def: "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [HPO:curators] synonym: "Pes calcaneovarus" EXACT [] is_a: HP:0001883 ! Talipes [Term] id: HP:0001885 name: Short 2nd toe def: "Underdevelopment (hypoplasia) of the second toe." [HPO:probinson] synonym: "Short second toe" EXACT [] is_a: HP:0001831 ! Short toe property_value: HP:0040005 "Underdevelopment (hypoplasia) of the `second toe` (FMA:25048)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001886 name: Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001888 name: Lymphopenia def: "A reduced number of lymphocytes in the blood." [HPO:probinson] synonym: "Lymphocytopenia" EXACT [] xref: MeSH:D008231 "Lymphopenia" xref: UMLS:C0024312 "Lymphopenia" is_a: HP:0001882 ! Leukopenia is_a: HP:0004332 ! Abnormality of lymphocytes is_a: HP:0012140 ! Abnormality of cells of the lymphoid lineage property_value: HP:0040005 "A reduced number of `lymphocytes` (CL:0000542) in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001889 name: Megaloblastic anemia alt_id: HP:0004858 def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [HPO:probinson] comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. xref: MeSH:D000749 "Anemia, Megaloblastic" is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0001890 name: Autoimmune hemolytic anemia def: "An autoimmune form of hemolytic anemia." [HPO:probinson] synonym: "Autoimmune haemolytic anaemia" EXACT [] synonym: "Hemolytic anemia, autoimmune" EXACT [] xref: MeSH:D000744 "Anemia, Hemolytic, Autoimmune" xref: UMLS:C0002880 "Autoimmune haemolytic anaemia" is_a: HP:0001878 ! Hemolytic anemia is_a: HP:0002960 ! Autoimmunity property_value: HP:0040005 "An autoimmune form of `hemolytic anemia` (HP:0001878)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001891 name: Iron deficiency anemia synonym: "Iron-deficiency anemia" EXACT [] xref: MeSH:D018798 "Anemia, iron-deficiency" xref: UMLS:C0162316 "Iron deficiency anaemia" is_a: HP:0001931 ! Hypochromic anemia [Term] id: HP:0001892 name: Abnormal bleeding alt_id: HP:0004830 alt_id: HP:0004834 alt_id: HP:0004849 alt_id: HP:0004862 alt_id: HP:0004865 alt_id: HP:0008183 def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [HPO:probinson] comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. synonym: "Bleeding diathesis" EXACT [] synonym: "Bleeding tendency" EXACT [] synonym: "Hemorrhagic diathesis" EXACT [] xref: UMLS:C1458140 "Bleeding diathesis" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001894 name: Thrombocytosis def: "Increased numbers of platelets in the peripheral blood." [HPO:probinson] comment: Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. synonym: "Increased platelet count" EXACT [] synonym: "Thrombocythaemia" RELATED [] synonym: "Thrombocythemia" RELATED [] xref: MeSH:D013922 "Thrombocytosis" xref: UMLS:C0836924 "thrombocytosis" is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001895 name: Normochromic anemia xref: UMLS:C0235983 "Normochromic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001896 name: Reticulocytopenia def: "A reduced number of reticulocytes in the peripheral blood." [HPO:probinson] xref: UMLS:C0858867 "Reticulocytopenia" is_a: HP:0004312 ! Abnormality of reticulocytes property_value: HP:0040005 "A reduced number of `reticulocytes` (CL:0000558) in the peripheral blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001897 name: Normocytic anemia def: "A kind of anemia in which the volume of the red blood cells is normal." [HPO:probinson] comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). xref: UMLS:C0085577 "Normocytic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001898 name: Increased red blood cell mass def: "The presence of an increased mass of red blood cells in the circulation." [HPO:probinson] xref: UMLS:C1853288 "Increased red blood cell mass" is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001899 name: Increased hematocrit def: "An increase in the volume of packed erythrocytes in a blood specimen." [HPO:probinson] xref: UMLS:C0239935 "Increased hematocrit" is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001900 name: Increased hemoglobin xref: UMLS:C0549448 "Increased haemoglobin" is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001901 name: Polycythemia alt_id: HP:0001893 def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [HPO:probinson] synonym: "Erythrocytosis" EXACT [] xref: MeSH:D011086 "Polycythemia" xref: UMLS:C1527405 "Erythrocytosis" is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001902 name: Giant platelets def: "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [HPO:probinson] xref: UMLS:C0333864 "Giant platelets" is_a: HP:0011877 ! Increased mean platelet volume [Term] id: HP:0001903 name: Anemia alt_id: HP:0001926 alt_id: HP:0003136 alt_id: HP:0005509 def: "A reduction in erythrocytes volume or hemoglobin concentration." [HPO:probinson] comment: Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias. synonym: "Anaemia" EXACT [] synonym: "Decreased hemoglobin" RELATED [] xref: MeSH:D000740 "Anemia" xref: UMLS:C0162119 "Decreased haemoglobin" xref: UMLS:C1000483 "Anemia" is_a: HP:0001877 ! Abnormality of erythrocytes property_value: HP:0040005 "A reduction in `erythrocytes` (CL:0000232) volume or hemoglobin concentration." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001904 name: Autoimmune neutropenia def: "Autoimmune-induced neutropenia." [HPO:probinson] xref: UMLS:C0340971 "Autoimmune neutropenia" is_a: HP:0001875 ! Neutropenia is_a: HP:0002960 ! Autoimmunity property_value: HP:0040005 "Autoimmune-induced `neutropenia` (HP:0001875)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001905 name: Congenital thrombocytopenia alt_id: HP:0004869 def: "Thrombocytopenia with congenital onset." [HPO:probinson] synonym: "thrombocytopenia, congenital" EXACT [] xref: UMLS:C0272278 "Congenital thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001907 name: Thromboembolism def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [HPO:probinson] synonym: "Embolism and thrombosis" RELATED [] synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] xref: MeSH:D013923 "Thromboembolism" xref: UMLS:C0040038 "Thromboembolic disease" is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0001908 name: Hypoplastic anemia def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [HPO:probinson] xref: UMLS:C0178416 "Hypoplastic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001909 name: Leukemia alt_id: HP:0005519 alt_id: HP:0006726 def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:probinson] xref: MeSH:D007938 "Leukemia" xref: UMLS:C0023418 "LEUKAEMIA" is_a: HP:0001881 ! Abnormality of leukocytes is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0001911 name: Abnormality of granulocytes alt_id: HP:0005438 def: "An abnormality of granulocytes." [HPO:probinson] synonym: "Abnormality of neutrophil" EXACT [] is_a: HP:0010974 ! Abnormality of myeloid leukocytes property_value: HP:0040005 "An abnormality of `granulocytes` (CL:0000094)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001912 name: Abnormality of basophils def: "A basophils abnormality." [HPO:probinson] is_a: HP:0001911 ! Abnormality of granulocytes property_value: HP:0040005 "A `basophils` (CL:0000767) abnormality." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001913 name: Granulocytopenia def: "An abnormally reduced number of granulocytes in the blood." [HPO:probinson] xref: UMLS:C0001824 "Granulocytopenia" is_a: HP:0001911 ! Abnormality of granulocytes property_value: HP:0040005 "An abnormally reduced number of `granulocytes` (CL:0000094) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001915 name: Aplastic anemia def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, pmid:21239768] comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. xref: MeSH:D000741 "Anemia, Aplastic" xref: UMLS:C0002874 "Aplastic Anemia" is_a: HP:0001876 ! Pancytopenia [Term] id: HP:0001917 name: Renal amyloidosis def: "A form of amyloidosis that affects the kidney." [HPO:probinson] xref: UMLS:C0268382 "Renal amyloidosis" is_a: HP:0011034 ! Amyloidosis is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "A form of `amyloidosis` (HP:0011034) that affects the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001919 name: Acute kidney injury def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [HPO:probinson] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. synonym: "Acute renal failure" EXACT [] xref: MeSH:D058186 "Acute Kidney Injury" xref: UMLS:C0022660 "Renal Failure, Acute" is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0001920 name: Renal artery stenosis def: "The presence of stenosis of the renal artery." [HPO:probinson] xref: UMLS:C0035067 "Renal Artery Stenosis" is_a: HP:0008776 ! Abnormality of the renal artery is_a: HP:0100545 ! Arterial stenosis property_value: HP:0040005 "The presence of `stenosis` (MPATH:80) of the `renal artery` (FMA:14751)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001922 name: Vacuolated lymphocytes alt_id: HP:0008147 alt_id: HP:0008329 def: "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [HPO:probinson, pmid:20633042] comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. synonym: "Enlarged lysosomal vacuoles in lymphocytes" EXACT [] synonym: "Vacuolated blood lymphocytes" EXACT [] xref: UMLS:C1836855 "Vacuolated lymphocytes" is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001923 name: Reticulocytosis def: "An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation." [HPO:probinson] synonym: "Increased reticulocyte count" EXACT [] synonym: "Increased reticulocytes" EXACT [] xref: MeSH:D045262 "Reticulocytosis" xref: UMLS:C0206160 "Reticulocytosis" is_a: HP:0004312 ! Abnormality of reticulocytes property_value: HP:0040005 "An elevation in the number of `reticulocytes` (CL:0000558) (immature erythrocytes) in the peripheral blood circulation." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001924 name: Sideroblastic anemia alt_id: HP:0100791 def: "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [HPO:probinson] comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. synonym: "Hypersideremic anemia" EXACT [] xref: MeSH:D000756 "Anemia, Sideroblastic" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001927 name: Acanthocytosis alt_id: HP:0005552 def: "Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars." [HPO:probinson] subset: hposlim_core synonym: "Acanthocytes" EXACT [] synonym: "Red cell acanthocytosis" EXACT [] xref: MeSH:D000050 "Acanthocytes" xref: UMLS:C0000886 "Acanthocytes" is_a: HP:0004447 ! Poikilocytosis property_value: HP:0040005 "Acanthocytosis is a type of `poikilocytosis` (HP:0004447) characterized by the presence of spikes on the cell surface. The cells have an irregular shaped resembling many-pointed stars." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001928 name: Abnormality of coagulation def: "An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot." [HPO:probinson] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Blood coagulation disorder" RELATED [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] synonym: "Haemorrhagic disorders" EXACT [HPO:sdoelken] xref: UMLS:C1846821 "Coagulation abnormalities" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: HP:0040005 "An abnormality of the process of `blood coagulation` (GO:0007596). That is, altered ability or inability of the blood to clot." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001929 name: Reduced factor XI activity def: "Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [HPO:probinson] synonym: "Factor XI deficiency" RELATED [] xref: UMLS:C1414498 "Factor XI deficiency" is_a: HP:0010989 ! Abnormality of the intrinsic pathway property_value: HP:0040005 "Decreased activity of `coagulation factor XI` (PR:000007295). Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001930 name: Nonspherocytic hemolytic anemia xref: UMLS:C0002878 "Anemia, Hemolytic" is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001931 name: Hypochromic anemia def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [HPO:probinson] comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). synonym: "Hypochromic anaemia" EXACT [] xref: MeSH:D000747 "Anemia, Hypochromic" xref: UMLS:C0002884 "Hypochromic anaemia, NOS" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001933 name: Subcutaneous hemorrhage def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [HPO:probinson] comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011276 ! Vascular skin abnormality created_by: peter creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001934 name: Persistent bleeding after trauma alt_id: HP:0007463 synonym: "Excessive bleeding after minor trauma" EXACT [] synonym: "Frequent bleeding with trauma" EXACT [] synonym: "Prolonged bleeding after minor trauma" EXACT [] is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0001935 name: Microcytic anemia def: "A kind of anemia in which the volume of the red blood cells is reduced." [HPO:probinson] comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). xref: UMLS:C0085576 "Microcytic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001937 name: Microangiopathic hemolytic anemia xref: UMLS:C1268935 "MICROANGIOPATHIC HEMOLYTIC ANEMIA" is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001939 name: Abnormality of metabolism/homeostasis alt_id: HP:0002146 synonym: "Laboratory abnormality" EXACT [] synonym: "Metabolism abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001941 name: Acidosis alt_id: HP:0001940 def: "Abnormal acid accumulation or depletion of base." [HPO:probinson] comment: Acidosis is a condition in which there is excessive acid in the body fluids. synonym: "acidemia" EXACT [HPO:SKOEHLER] xref: MeSH:D000138 "Acidosis" xref: UMLS:C0001122 "Acidosis" is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001942 name: Metabolic acidosis alt_id: HP:0004895 alt_id: HP:0004907 def: "Acid accumulation or depletion of base in the body due to buildup of metabolic acids." [HPO:probinson] xref: UMLS:C0220981 "Metabolic acidosis" is_a: HP:0001941 ! Acidosis [Term] id: HP:0001943 name: Hypoglycemia alt_id: HP:0003356 def: "A decreased concentration of glucose in the blood." [HPO:curators] synonym: "Hypoglycaemia" EXACT [] xref: MeSH:D007003 "Hypoglycemia" xref: UMLS:C0020615 "Hypoglycemia" is_a: HP:0011015 ! Abnormality of blood glucose concentration property_value: HP:0040005 "A `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." xsd:string {xref="HPO:curators"} [Term] id: HP:0001944 name: Dehydration xref: MeSH:D003681 "Dehydration" xref: UMLS:C0011175 "Dehydration" is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0001945 name: Fever def: "Elevated body temperature due to failed thermoregulation." [HPO:sdoelken] comment: Hyperthermia is defined as a temperature greater than 37.5-38.3 ??C (100-101 ??F). synonym: "Hyperthermia" EXACT [] synonym: "Pyrexia" EXACT [] xref: MeSH:D005334 "Fever" xref: UMLS:C0424755 "fever" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0001946 name: Ketosis alt_id: HP:0003543 def: "Presence of elevated levels of ketone bodies in the body." [HPO:probinson] comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. synonym: "Ketonemia" EXACT [] xref: MeSH:D007662 "Ketosis" xref: UMLS:C0022638 "Ketosis" xref: UMLS:C0235430 "Ketonaemia" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001947 name: Renal tubular acidosis def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [HPO:probinson] xref: MeSH:D000141 "Acidosis, Renal Tubular" xref: UMLS:C0001126 "Renal tubular acidosis" is_a: HP:0000124 ! Renal tubular dysfunction is_a: HP:0001941 ! Acidosis [Term] id: HP:0001948 name: Alkalosis def: "Depletion of acid or accumulation base in the body fluids." [HPO:probinson] xref: MeSH:D000471 "Alkalosis" xref: UMLS:C0002063 "Alkalosis" is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001949 name: Hypokalemic alkalosis xref: UMLS:C0004775 "Hypokalemic Alkalosis" is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001950 name: Respiratory alkalosis def: "Alkalosis due to excess loss of carbon dioxide from the body." [HPO:probinson] xref: MeSH:D000472 "Alkalosis, Respiratory" xref: UMLS:C0002064 "Alkalosis, Respiratory" is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001951 name: Episodic ammonia intoxication xref: UMLS:C1839541 "Episodic ammonia intoxication" is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis [Term] id: HP:0001952 name: Abnormal glucose tolerance def: "An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." [HPO:probinson] synonym: "Glucose tolerance decreased" EXACT [] xref: MP:0005291 xref: UMLS:C0235401 "Abnormal glucose tolerance" is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: HP:0040005 "An `abnormal` (PATO:0000460) `resistance to` (PATO:0001046) `glucose`(CHEBI:17234), i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001953 name: Diabetic ketoacidosis alt_id: HP:0008253 def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [HPO:probinson] synonym: "Diabetic ketosis" EXACT [] xref: MeSH:D016883 "Diabetic ketoacidosis" xref: UMLS:C0011880 "Diabetic Ketoacidosis" is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0001954 name: Episodic fever alt_id: HP:0004903 alt_id: HP:0005962 alt_id: HP:0005966 alt_id: HP:0005980 def: "Periodic (episodic or recurrent) bouts of fever." [HPO:probinson] comment: This term should not be used for new annotations. Rather, the frequency of patients with the disease who have recurrent episodes of fever should be noted in the annotation file. This term will be obsoleted in the future. synonym: "Hyperthermia, episodic" EXACT [] synonym: "Increased body temperature, episodic" EXACT [] synonym: "Intermittent fever" EXACT [] xref: UMLS:C0277799 "Intermittent fever" is_a: HP:0001945 ! Fever [Term] id: HP:0001955 name: Unexplained fevers def: "Episodes of fever for which no infectious cause can be identified." [HPO:curators] xref: UMLS:C1844662 "Unexplained fevers" is_a: HP:0001945 ! Fever [Term] id: HP:0001956 name: Truncal obesity alt_id: HP:0008885 def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:probinson] synonym: "Centripetal obesity" EXACT [] xref: UMLS:C0311277 "Truncal obesity" is_a: HP:0001513 ! Obesity [Term] id: HP:0001958 name: Nonketotic hypoglycemia xref: UMLS:C1865292 "Hypoglycemia, nonketotic" is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001959 name: Polydipsia def: "Excessive thirst manifested by excessive fluid intake." [] xref: MeSH:D059606 "Polydipsia" xref: UMLS:C0085602 "POLYDYPSIA" is_a: HP:0030082 ! Abnormal drinking behavior [Term] id: HP:0001960 name: Hypokalemic metabolic alkalosis xref: UMLS:C0740898 "Hypokalemic metabolic alkalosis" is_a: HP:0001949 ! Hypokalemic alkalosis is_a: HP:0200114 ! Metabolic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001962 name: Palpitations def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [HPO:probinson] xref: UMLS:C0030252 "Palpitations" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001963 name: Abnormal speech discrimination def: "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [HPO:curators] synonym: "Poor speech discrimination" EXACT [] xref: UMLS:C1836752 "Abnormal speech discrimination" is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001964 name: Aplasia/Hypoplasia of metatarsal bones def: "Absence or underdevelopment of the metatarsal bones." [HPO:curators] synonym: "Absent or hypoplastic metatarsal" EXACT [] synonym: "Absent/hypoplastic metacarpals" EXACT [] synonym: "Aplastic/hypoplastic metatarsals" EXACT [] is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001965 name: Abnormality of the scalp def: "Abnormality of the scalp." [HPO:probinson] comment: The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. is_a: HP:0000234 ! Abnormality of the head property_value: HP:0040005 "Abnormality of the `scalp` (FMA:46494)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001966 name: Mesangial abnormality def: "An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries." [HPO:probinson] is_a: HP:0000095 ! Abnormality of the glomerulus property_value: HP:0040005 "An abnormality of the `mesangium` (FMA:84139), i.e., of the central part of the renal glomerulus between capillaries." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001967 name: Diffuse mesangial sclerosis alt_id: HP:0004728 def: "Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion." [HPO:probinson] comment: This finding can be demonstrated by renal biopsy. synonym: "Diffuse mesangial sclerosis glomerulopathy" EXACT [] synonym: "Mesangial sclerosis" EXACT [] xref: UMLS:C0268747 "Diffuse mesangial sclerosis" xref: UMLS:C1860271 "Diffuse mesangial sclerosis glomerulopathy" is_a: HP:0001966 ! Mesangial abnormality property_value: HP:0040005 "Diffuse sclerosis of the `mesangium` (FMA:84139), as manifestated by diffuse mesangial matrix expansion." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001969 name: Tubulointerstitial abnormality alt_id: HP:0008654 def: "An abnormality that involves the tubules and interstitial tissue of the kidney." [HPO:probinson] synonym: "Tubulointerstitial nephropathy" RELATED [] xref: UMLS:C0027707 "Tubulointerstitial nephropathy" is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0001970 name: Tubulointerstitial nephritis def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HP:probinson] synonym: "Interstitial nephritis" EXACT [] synonym: "Nephritis, Tubulointerstitial" EXACT [] xref: UMLS:C0041349 "Nephritis, Tubulointerstitial" is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0001971 name: Hypersplenism def: "A malfunctioning of the spleen in which it prematurely destroys red blood cells." [HPO:probinson] comment: The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly). xref: MeSH:D006971 "Hypersplenism" xref: UMLS:C0020532 "Hypersplenism" is_a: HP:0001743 ! Abnormality of the spleen property_value: HP:0040005 "A malfunctioning of the `spleen` (FMA:7196) in which it prematurely destroys red blood cells." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001972 name: Macrocytic anemia def: "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [HPO:probinson, pmid:19202968] comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. xref: MeSH:D000748 "Anemia, Macrocytic" xref: UMLS:C0002886 "Anemia, Macrocytic" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001973 name: Autoimmune thrombocytopenia alt_id: HP:0001936 alt_id: HP:0004806 alt_id: HP:0004829 def: "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [DDD:wouwehand] comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial\nsystem. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. synonym: "Idiopathic thrombocytopenia" EXACT [] synonym: "Idiopathic thrombocytopenic purpura" EXACT [] synonym: "Immune thrombocytopenia" EXACT [] xref: MeSH:D016553 "Purpura, Thrombocytopenic, Idiopathic" xref: UMLS:C0043117 "Purpura, Thrombocytopenic, Idiopathic" xref: UMLS:C0272286 "Immune thrombocytopenia" xref: UMLS:C0920163 "Idiopathic thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001974 name: Leukocytosis def: "An abnormal increase in the number of leukocytes in the blood." [HPO:probinson] xref: MeSH:D007964 "Leukocytosis" xref: UMLS:C0023518 "Leucocytosis, NOS" is_a: HP:0011893 ! Abnormal leukocyte count property_value: HP:0040005 "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001975 name: Decreased platelet glycoprotein IIb-IIIa def: "Decreased cell membrane concentration of glycoprotein IIb-IIIa." [DDD:ouwehand] comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. synonym: "Glanzmann thrombasthenia" RELATED [] synonym: "Reduced level of platelet glycoprotein IIb/IIIa complex" EXACT [] is_a: HP:0011878 ! Abnormal platelet membrane protein expression [Term] id: HP:0001976 name: Reduced antithrombin III activity def: "An abnormality of coagulation related to a decreased concentration of antithrombin-III." [HPO:probinson] comment: Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. synonym: "Anti-thrombin III deficiency" EXACT [] synonym: "Antithrombin III deficiency" EXACT [] synonym: "Decreased antithrombin III" EXACT [] xref: MeSH:D020152 "Antithrombin III Deficiency" xref: UMLS:C0272375 "Antithrombin III Deficiency" is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: HP:0040005 "An `abnormality of coagulation` (HP:0001928) related to a `decreased concentration` (PATO:0001163) of `antithrombin-III` (PR:000003252)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001977 name: Abnormal thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [HPO:probinson] xref: UMLS:C0040053 "Thrombosis" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001978 name: Extramedullary hematopoiesis alt_id: HP:0004847 def: "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [HPO:probinson] comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. synonym: "Extramedullary erythropoiesis" RELATED [] xref: MeSH:D006411 "Hematopoiesis, Extramedullary" xref: UMLS:C0018952 "Extramedullary Hematopoiesis" xref: UMLS:C1292120 "Extramedullary erythropoiesis" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001980 name: Megaloblastic bone marrow def: "Abnormal increased number of megaloblasts in the bone marrow." [HPO:probinson] comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. xref: UMLS:C0238801 "Megaloblastic bone marrow" is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001981 name: Schistocytosis def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [HPO:probinson] synonym: "Schistocytes" EXACT [] xref: UMLS:C0221282 "SCHISTOCYTES" is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001982 name: Sea-blue histiocytosis def: "An abnormality of macrophages, also known as histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content." [HPO:probinson, pmid:8797061] synonym: "'Sea blue' histiocytes" EXACT [] synonym: "Sea-blue histiocyte" EXACT [] xref: UMLS:C0333836 "'Sea blue' histiocytes" is_a: HP:0004311 ! Abnormality of macrophages property_value: HP:0040005 "An abnormality of `macrophages` (CL:0000235), also known as histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content." xsd:string {xref="HPO:probinson", xref="pmid:8797061"} [Term] id: HP:0001983 name: Reduced lymphocyte surface expression of CD43 (sialophorin) def: "A reduction in the expression of CD43 on the cell surface of lymphocytes." [HPO:probinson] comment: CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes. synonym: "Cd43 defectively expressed on surface of blood cells" EXACT [] is_a: HP:0004332 ! Abnormality of lymphocytes property_value: HP:0040005 "A reduction in the expression of CD43 on the cell surface of `lymphocytes` (CL:0000542)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001984 name: Intolerance to protein is_a: HP:0012537 ! Food intolerance [Term] id: HP:0001985 name: Hypoketotic hypoglycemia alt_id: HP:0005969 def: "A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies." [HPO:probinson] comment: MERGED COMMENT:\nTARGET COMMENT: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism.\n--------------------\nSOURCE COMMENT: A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. synonym: "Hypoglycemia, hypoketotic" EXACT [] xref: UMLS:C1856438 "Hypoglycemia, hypoketotic" is_a: HP:0001943 ! Hypoglycemia property_value: HP:0040005 "A `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) associated with a reduced concentration of ketone bodies." xsd:string {xref="HPO:probinson"} [Term] id: HP:0001986 name: Hypertonic dehydration synonym: "Hyperosmolar dehydration" EXACT [] xref: UMLS:C1112601 "Hypertonic dehydration" is_a: HP:0001944 ! Dehydration [Term] id: HP:0001987 name: Hyperammonemia alt_id: HP:0008308 alt_id: HP:0008334 def: "An increased concentration of ammonia in the blood." [HPO:gcarletti] xref: MeSH:D022124 "Hyperammonemia" is_a: HP:0002157 ! Azotemia property_value: HP:0040005 "An increased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0001988 name: Recurrent hypoglycemia def: "Recurrent episodes of decreased concentration of glucose in the blood." [HPO:gcarletti] synonym: "hypoglycaemia, recurrent" EXACT [HPO:skoehler] synonym: "hypoglycemia, recurrent" EXACT [HPO:skoehler] synonym: "Hypoglycemic episodes" EXACT [] synonym: "Recurrent hypoglycaemia" EXACT [] synonym: "Recurrent hypoglycemic episodes" EXACT [] xref: UMLS:C1846288 "Recurrent hypoglycemic episodes" is_a: HP:0001943 ! Hypoglycemia property_value: HP:0040005 "`Recurrent` (PATO:0000427) episodes of `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0001989 name: Fetal akinesia sequence def: "Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [HPO:probinson] subset: hposlim_core synonym: "Early severe fetal akinesia sequence" RELATED [HPO:skoehler] synonym: "Fetal akinesia" RELATED [HPO:skoehler] is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001991 name: Aplasia/Hypoplasia of toe def: "Absence or hypoplasia of toes." [HPO:probinson] synonym: "ABSENT/HYPOPLASTIC TOES" RELATED [HPO:skoehler] synonym: "Aplastic/hypoplastic phalanges (feet)" EXACT [] is_a: HP:0001780 ! Abnormality of toe is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001992 name: Organic aciduria def: "Excretion of non-amino organic acids in urine." [HPO:probinson] xref: UMLS:C0241775 "Organic aciduria" is_a: HP:0012072 ! Aciduria [Term] id: HP:0001993 name: Ketoacidosis def: "Acidosis resulting from accumulation of ketone bodies." [HPO:probinson] comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. xref: UMLS:C0220982 "Ketoacidosis" is_a: HP:0001941 ! Acidosis is_a: HP:0001946 ! Ketosis [Term] id: HP:0001994 name: Renal Fanconi syndrome def: "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [HPO:probinson] synonym: "'de toni-fanconi-debre' syndrome" EXACT [] synonym: "Renal tubular fanconi syndrome" EXACT [] xref: UMLS:C0015624 "Renal Fanconi Syndrome" is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0001995 name: Hyperchloremic acidosis xref: UMLS:C0085569 "Hyperchloraemic acidosis" is_a: HP:0001941 ! Acidosis [Term] id: HP:0001996 name: Chronic metabolic acidosis def: "Longstanding metabolic acidosis." [HPO:probinson, pmid:15882309] comment: Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function. is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0012468 ! Chronic acidosis [Term] id: HP:0001997 name: Gout alt_id: HP:0001368 def: "Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues." [HPO:sdoelken] synonym: "Gouty arthritis" EXACT [] xref: MeSH:D006073 "Gout" xref: UMLS:C0018099 "Gout" is_a: HP:0001369 ! Arthritis is_a: HP:0002149 ! Hyperuricemia property_value: HP:0040005 "Recurrent attacks of acute inflammatory arthritis of a `joint ` (FMA:7490) or `set of joints` (FMA:73023) caused by elevated levels of `uric acid` (CHEBI:27226) in the `blood` (FMA:9670) which crystallize and are deposited in joints, tendons, and surrounding tissues." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0001998 name: Neonatal hypoglycemia xref: UMLS:C0158986 "HYPOGLYCEMIA, INFANTILE" is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Abnormal facial shape alt_id: HP:0002004 alt_id: HP:0002260 alt_id: HP:0004643 alt_id: HP:0004649 alt_id: HP:0004652 alt_id: HP:0004655 alt_id: HP:0004675 alt_id: HP:0005124 def: "An abnormal morphology (form) of the face or its components." [DDD:jclayton-smith] comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. subset: hposlim_core synonym: "Craniofacial abnormalities" RELATED [] synonym: "Craniofacial dysmorphism" EXACT [] synonym: "Distinctive facies" EXACT [] synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [] synonym: "Facial dysmorphism" EXACT [] synonym: "Unusual facial appearance" EXACT [] synonym: "Unusual facies" EXACT [] xref: UMLS:C0266617 "Facial dysmorphism" is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella def: "Reduced distance from the anterior border of the naris to the subnasale." [pmid:19152422] comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. subset: hposlim_core synonym: "Columella, short" EXACT [] xref: UMLS:C1857479 "Short columella" is_a: HP:0009929 ! Abnormality of the columella [Term] id: HP:0002002 name: Deep philtrum alt_id: HP:0000305 alt_id: HP:0004654 def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [pmid:19152422] comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. subset: hposlim_core synonym: "Depressed philtrum" RELATED [] synonym: "Philtrum, deep" EXACT [] synonym: "Prominent philtrum" EXACT [] xref: UMLS:C1839797 "Deep philtrum" xref: UMLS:C1846177 "Prominent philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead xref: UMLS:C1839783 "Large forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002006 name: Facial cleft def: "A congenital malformation with a cleft (gap or opening) in the face." [HPO:probinson] subset: hposlim_core synonym: "FACIAL CLEFTS" RELATED [HPO:skoehler] xref: UMLS:C0685787 "Facial clefts" is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002007 name: Frontal bossing alt_id: HP:0000254 alt_id: HP:0000333 alt_id: HP:0001358 alt_id: HP:0001359 def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [pmid:19125436] comment: This is not the same as prominent forehead. subset: hposlim_core xref: UMLS:C0221354 "Frontal bossing" is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0011218 ! Abnormal shape of the frontal region [Term] id: HP:0002009 name: Potter facies def: "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [HPO:probinson] comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. xref: UMLS:C0266619 "Potter's facies" is_a: HP:0011334 ! Facial shape deformation [Term] id: HP:0002010 name: Narrow maxilla xref: UMLS:C1851835 "Narrow maxilla" is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0002011 name: Morphological abnormality of the central nervous system alt_id: HP:0002405 alt_id: HP:0002413 alt_id: HP:0002481 alt_id: HP:0007319 def: "A structural abnormality of the central nervous system." [HPO:probinson] synonym: "Abnormality of the central nervous system" EXACT [] synonym: "Central nervous system disease" RELATED [] is_a: HP:0012639 ! Abnormality of nervous system morphology property_value: HP:0040005 "A structural abnormality of the `central nervous system` (FMA:55675)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002012 name: Abnormality of the abdominal organs def: "An abnormality of the viscera of the abdomen." [HPO:probinson] comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. synonym: "Gastrointestinal tract defects" EXACT [] is_a: HP:0001438 ! Abnormality of the abdomen property_value: HP:0040005 "An abnormality of the `viscera of the abdomen` (FMA:259123)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002013 name: Vomiting def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] subset: hposlim_core synonym: "Emesis" EXACT [] xref: MEDRA:10047700 "Vomiting" xref: MeSH:D014839 "Vomiting" xref: UMLS:C0042963 "Vomiting" is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002014 name: Diarrhea def: "Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson] xref: MeSH:D003967 "Diarrhea" xref: UMLS:C1963091 "Diarrhea" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002015 name: Dysphagia alt_id: HP:0002569 def: "Difficulty in swallowing." [HPO:probinson] subset: hposlim_core synonym: "Deglutition disorder" RELATED [] synonym: "Poor swallowing" EXACT [] synonym: "Swallowing difficulties" EXACT [] synonym: "Swallowing difficulty" EXACT [] xref: MEDRA:10013950 "Dysphagia" xref: SNOMEDCT:288939007 "Difficulty swallowing" xref: UMLS:C0011168 "Dysphagia" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002017 name: Nausea and vomiting is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002018 name: Nausea def: "A sensation of unease in the stomach together with an urge to vomit." [HPO:probinson] subset: hposlim_core xref: MEDRA:10028813 "Nausea" xref: MeSH:D009325 "Nausea" xref: SNOMEDCT:422587007 "Nausea" xref: UMLS:C1963179 "Nausea" is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002019 name: Constipation alt_id: HP:0002241 alt_id: HP:0003786 def: "Infrequent or difficult evacuation of feces." [HPO:probinson] synonym: "Costiveness" EXACT [] synonym: "Dyschezia" EXACT [] xref: MeSH:D003248 "Constipation" xref: UMLS:C0009806 "Constipation" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002020 name: Gastroesophageal reflux alt_id: HP:0004793 def: "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] subset: hposlim_core synonym: "Acid reflux disease" EXACT [] synonym: "Gastroesophageal reflux disease" EXACT [] xref: MeSH:D005764 "Gastroesophageal Reflux" xref: SNOMEDCT:235595009 "Gastroesophageal reflux disease" xref: UMLS:C0017168 "Gastroesophageal reflux disease" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0002021 name: Pyloric stenosis def: "An abnormal narrowing of the pylorus." [HPO:probinson] comment: Pyloric stenosis occurs in the first few months of life. subset: hposlim_core xref: MEDRA:10037621 "Pyloric stenosis" xref: MeSH:D011707 "Pyloric Stenosis" xref: SNOMEDCT:367403001 "Pyloric stenosis" xref: UMLS:C0034194 "Pyloric Stenosis" is_a: HP:0004400 ! Abnormality of the pylorus property_value: HP:0040005 "An abnormal narrowing of the `pylorus` (FMA:14581)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002023 name: Anal atresia alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:probinson] subset: hposlim_core synonym: "Imperforate anus" RELATED [] xref: MEDRA:10002120 "Anal atresia" xref: SNOMEDCT:204712000 "Anal atresia" xref: UMLS:C0003466 "Anus, Imperforate" is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002024 name: Malabsorption alt_id: HP:0008270 def: "Impaired ability to absorb one or more nutrients from the intestine." [HPO:probinson] synonym: "Intestinal malabsorption" EXACT [] xref: UMLS:C1963165 "Malabsorption" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002025 name: Anal stenosis def: "Abnormal narrowing of the anal opening." [HPO:probinson] subset: hposlim_core xref: MEDRA:10002176 "Anal stenosis" xref: UMLS:C0262374 "Anal stenosis" is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002027 name: Abdominal pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen." [HPO:probinson] subset: hposlim_core xref: MEDRA:10000081 "Abdominal pain" xref: MeSH:D015746 "Abdominal Pain" xref: SNOMEDCT:21522001 "Abdominal pain" xref: UMLS:C0000737 "Abdominal Pain" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002028 name: Chronic diarrhea def: "The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks." [HPO:probinson] synonym: "DIARRHEA, RECURRENT" RELATED [HPO:skoehler] synonym: "RECURRENT DIARRHEA" RELATED [HPO:skoehler] xref: UMLS:C0401151 "Chronic diarrhea" is_a: HP:0002014 ! Diarrhea property_value: HP:0040005 "The presence of chronic `diarrhea` (HP:0002014), which is usually taken to mean diarrhea that has persisted for over 4 weeks." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002031 name: Abnormality of the esophagus def: "An abnormality of the esophagus." [HPO:probinson] synonym: "Anomaly of the esophagus" EXACT [] is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract property_value: HP:0040005 "An abnormality of the `esophagus` (FMA:7131)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002032 name: Esophageal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] xref: MeSH:D004933 "Esophageal Atresia" xref: UMLS:C0014850 "Esophageal Atresia" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002589 ! Gastrointestinal atresia [Term] id: HP:0002033 name: Poor suck def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] synonym: "Poor sucking" EXACT [HPO:skoehler] xref: UMLS:C1837142 "Poor suck" is_a: HP:0008872 ! Feeding difficulties in infancy [Term] id: HP:0002034 name: Abnormality of the rectum def: "An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus." [HPO:probinson] synonym: "Anomaly of the rectum" EXACT [] is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0012732 ! Anorectal anomaly property_value: HP:0040005 "An abnormaltiy of the `rectum` (FMA:14544), the final segment of the large intestine that stores solid waste until it passes through the anus." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002035 name: Rectal prolapse def: "Protrusion of the rectal mucous membrane through the anus." [HPO:probinson] subset: hposlim_core synonym: "RECTAL PROLAPSED" RELATED [HPO:skoehler] xref: MEDRA:10038077 "Rectal prolapse" xref: MeSH:D012005 "Rectal Prolapse" xref: SNOMEDCT:57773001 "Rectal prolapse" xref: UMLS:C1868686 "Rectal prolapse" is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002036 name: Hiatus hernia def: "The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus." [HPO:probinson] comment: A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn). subset: hposlim_core synonym: "Hiatal hernia" EXACT [] xref: MEDRA:10020028 "Hiatus hernia" xref: MeSH:D006551 "Hernia, Hiatal" xref: SNOMEDCT:84089009 "Hiatal hernia" xref: UMLS:C0019291 "Hiatus hernia NOS" is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0100790 ! Hernia property_value: HP:0040005 "The presence of a `hernia` (MPATH:75) in which the upper part of the stomach, i.e., mainly the `gastric cardia` (FMA:14561) protrudes through the diaphragmatic `esophageal hiatus` (FMA:58289)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammation of the large intestine synonym: "Inflammatory bowel disease" RELATED [] xref: UMLS:C0021390 "Inflammatory bowel disease" is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0004386 ! Gastrointestinal inflammation [Term] id: HP:0002038 name: Protein avoidance xref: UMLS:C1839531 "Protein avoidance" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002039 name: Anorexia def: "A lack or loss of appetite for food (as a medical condition)." [HPO:probinson] comment: Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). xref: MeSH:D000855 "Anorexia" xref: UMLS:C0426579 "anorexia" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002040 name: Esophageal varix def: "Extreme dilation of the submucusoal veins in the lower portion of the esophagus." [HPO:probinson] comment: Esophageal varices are most often a consequence of portal hypertension. subset: hposlim_core synonym: "Esophageal varices" RELATED [] xref: MEDRA:10056091 "Varices oesophageal" xref: SNOMEDCT:28670008 "Esophageal varices" xref: UMLS:C0014867 "Esophageal Varices" is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002041 name: Intractable diarrhea is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002043 name: Esophageal stricture def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [HPO:probinson] comment: Gastroesophageal reflux is a common cause of esophageal stricture. xref: UMLS:C0014866 "Esophageal Stenosis" is_a: HP:0010450 ! Esophageal stenosis [Term] id: HP:0002044 name: Zollinger-Ellison syndrome def: "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [HPO:probinson] comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. subset: hposlim_core xref: MEDRA:10048281 "Zollinger-Ellison syndrome" xref: MeSH:D015043 "Zollinger-Ellison Syndrome" xref: SNOMEDCT:53132006 "Zollinger-Ellison syndrome" xref: UMLS:C0043515 "Zollinger-Ellison syndrome" is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002045 name: Hypothermia def: "Reduced body temperature due to failed thermoregulation." [HPO:sdoelken] comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 ??C (95.0 ??F). xref: MeSH:D007035 "Hypothermia" xref: UMLS:C2364050 "Hypothermia" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002046 name: Heat intolerance def: "The inability to maintain a comfortably body temperature in warm or hot weather." [HPO:probinson] comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. subset: hposlim_core synonym: "Intolerance to heat and fevers" EXACT [] xref: SNOMEDCT:69215007 "Intolerant of heat" xref: UMLS:C0231274 "Heat intolerance" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002047 name: Malignant hyperthermia alt_id: HP:0004896 def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] synonym: "Malignant hyperthermia with anesthesia" EXACT [] xref: MeSH:D008305 "Malignant hyperthermia" xref: UMLS:C0024591 "Malignant Hyperthermia" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002048 name: Renal cortical atrophy def: "Atrophy of the cortex of the kidney." [HPO:probinson] is_a: HP:0011035 ! Abnormality of the renal cortex is_a: HP:0012585 ! Renal atrophy property_value: HP:0040005 "`Atrophy` (MPATH:127) of the `cortex of the kidney` (FMA:15581)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002049 name: Proximal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [HPO:probinson] synonym: "Proximal tubular acidosis" EXACT [] synonym: "Renal tubular acidosis, proximal" EXACT [] synonym: "Renal tubular acidosis, type II" EXACT [] is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0002050 name: Macroorchidism, postpubertal xref: UMLS:C1263023 "Macroorchidism" is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002054 name: Heavy supraorbital ridges xref: UMLS:C1845107 "Heavy supraorbital ridges" is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0002055 name: Curved linear dimple below the lower lip is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0002056 name: Abnormality of the glabella def: "An abnormality of the glabella." [HPO:probinson] synonym: "Glabellar abnormality" EXACT [] is_a: HP:0000290 ! Abnormality of the forehead property_value: HP:0040005 "An abnormality of the `glabella` (FMA:52851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002057 name: Prominent glabella def: "Forward protrusion of the glabella." [HPO:probinson, pmid:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. subset: hposlim_core xref: UMLS:C1860247 "Prominent glabella" is_a: HP:0002056 ! Abnormality of the glabella property_value: HP:0040005 "Forward protrusion of the `glabella` (FMA:52851)." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} [Term] id: HP:0002058 name: Myopathic facies alt_id: HP:0004647 def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] synonym: "Myopathic face" EXACT [] xref: UMLS:C0332615 "Myopathic facies" is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0002059 name: Cerebral atrophy alt_id: HP:0002422 alt_id: HP:0006890 def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [HPO:sdoelken] comment: Atrophy may be progressive over time. synonym: "Supratentorial atrophy" RELATED [] is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0002060 name: Abnormality of the cerebrum def: "An abnormality of the telencephalon, which is also known as the cerebrum." [HPO:probinson] synonym: "Abnormality of the telencephalon" EXACT [] is_a: HP:0100547 ! Abnormality of forebrain morphology property_value: HP:0040005 "An abnormality of the `telencephalon` (FMA:62000), which is also known as the cerebrum." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002061 name: Lower limb spasticity def: "Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis" [HPO:probinson, UKT:rschuele] xref: UMLS:C1271100 "Lower limb spasticity" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002062 name: Morphological abnormality of the pyramidal tract alt_id: HP:0012445 def: "Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] comment: The pyramidal tracts comprise both the corticospinal and corticobulbar tracts. synonym: "Abnormality of the pyramidal tracts" EXACT [] synonym: "Pyramidal tract disease" RELATED [] is_a: HP:0002011 ! Morphological abnormality of the central nervous system property_value: HP:0040005 "Any structural abnormality of the `pyramidal tract` (FMA:72634), whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." xsd:string {xref="HPO:curators"} [Term] id: HP:0002063 name: Rigidity def: "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [HPO:probinson] comment: Rigidity is often a manifestation of basal ganglia diseases. synonym: "Muscle rigidity" EXACT [] xref: MeSH:D009127 "Muscle Rigidity" xref: UMLS:C0700109 "rigidity" is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002064 name: Spastic gait xref: UMLS:C0231687 "Spastic gait" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002066 name: Gait ataxia alt_id: HP:0002379 def: "A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO:probinson, UKT:rschuele] synonym: "Ataxia of gait" EXACT [] synonym: "Ataxic gait" EXACT [] xref: MeSH:D020234 "Gait Ataxia" xref: UMLS:C0751837 "Gait Ataxia" is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance property_value: HP:0040005 "A type of `ataxia` (HP:0001251) characterized by the impairment of the ability to coordinate the movements required for normal walking." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002067 name: Bradykinesia def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:probinson] xref: UMLS:C0233565 "Bradykinesia" is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002068 name: Neuromuscular dysphagia is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Generalized tonic-clonic seizures alt_id: HP:0001306 alt_id: HP:0002407 alt_id: HP:0007252 def: "Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena." [HPO:curators] comment: In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure. synonym: "Generalised tonic-clonic seizures" EXACT [] synonym: "Generalized clonic-tonic seizures" EXACT [] synonym: "Generalized tonic clonic seizures" EXACT [] synonym: "Grand mal seizures" EXACT [] synonym: "Seizures, generalized tonic-clonic" EXACT [] synonym: "Seizures, generalized, tonic-clonic" EXACT [] synonym: "Seizures, tonic-clonic" EXACT [] xref: UMLS:C0494475 "Generalised tonic-clonic seizures" is_a: HP:0002197 ! Generalized seizures property_value: HP:0040005 "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena." xsd:string {xref="HPO:curators"} [Term] id: HP:0002070 name: Limb ataxia def: "A kind of ataxia that affects movements of the extremities." [HPO:probinson] comment: Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. synonym: "Appendicular ataxia" EXACT [] xref: UMLS:C0750937 "Ataxia, Limb" is_a: HP:0001251 ! Ataxia property_value: HP:0040005 "A kind of `ataxia` (HP:0001251) that affects movements of the extremities." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002071 name: Abnormality of extrapyramidal motor function alt_id: HP:0006810 alt_id: HP:0007113 def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [HPO:probinson] comment: The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal signs" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] synonym: "Extrapyramidal syndrome" EXACT [] synonym: "Extrapyramidal tract signs" EXACT [] xref: UMLS:C0234133 "Extrapyramidal signs" is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002072 name: Chorea alt_id: HP:0002397 def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] synonym: "Choreatic disease" RELATED [] synonym: "Choreic movements" EXACT [] synonym: "Choreiform movements" EXACT [] xref: MeSH:D002819 "Chorea" xref: UMLS:C0008489 "choreiform movements" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002073 name: Progressive cerebellar ataxia alt_id: HP:0001329 alt_id: HP:0002496 alt_id: HP:0007331 synonym: "Cerebellar ataxia, progressive" EXACT [] synonym: "Progressive ataxia" EXACT [] xref: UMLS:C0393525 "Progressive cerebellar ataxia" xref: UMLS:C1859521 "Ataxia, progressive" is_a: HP:0001251 ! Ataxia [Term] id: HP:0002074 name: Increased neuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682] synonym: "Neuronal lipopigments" RELATED [] is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0002075 name: Dysdiadochokinesis alt_id: HP:0002426 def: "A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee." [HPO:probinson, UKB:tklockgether] comment: Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. synonym: "Dysdiadochokinesia" EXACT [] xref: UMLS:C0234979 "DYSDIADOCHOKINESIA" is_a: HP:0001251 ! Ataxia property_value: HP:0040005 "A type of `ataxia` (HP:0001251) characterized by the impairment of the ability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." xsd:string {xref="HPO:curators"} [Term] id: HP:0002076 name: Migraine alt_id: HP:0007194 def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [HPO:probinson, pmid:15304572] synonym: "Intermittent migraine headaches" EXACT [] synonym: "Migraine headache" EXACT [] synonym: "Migraine headaches" EXACT [] xref: MeSH:D008881 "Migraine Disorders" xref: UMLS:C0149931 "Migraine" is_a: HP:0002315 ! Headache [Term] id: HP:0002077 name: Migraine with aura def: "A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." [HPO:probinson, pmid:15304572] xref: MeSH:D020325 "Migraine With Aura" is_a: HP:0002076 ! Migraine property_value: HP:0040005 "A type of `migraine` (HP:0002076) in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession." xsd:string {xref="HPO:probinson", xref="pmid:15304572"} [Term] id: HP:0002078 name: Truncal ataxia alt_id: HP:0007014 def: "Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO:probinson, UKT:rschuele] comment: Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. synonym: "Trunk ataxia" EXACT [] xref: UMLS:C1836397 "Trunk ataxia" is_a: HP:0001251 ! Ataxia property_value: HP:0040005 "A kind of `ataxia` (HP:0001251) that affects the proximal musculature, especially that involved in gait stability." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum alt_id: HP:0002319 alt_id: HP:0007026 def: "Underdevelopment of the corpus callosum." [HPO:probinson, pmid:21263138] comment: The corpus callosum appears thin in midline views of the brain in neuroradiological images. synonym: "Corpus callosum hypoplasia" EXACT [] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic corpus callosum" EXACT [] synonym: "Small corpus callosum" EXACT [] synonym: "Thin corpus callosum" EXACT [] synonym: "Thinning of the corpus callosum" EXACT [] xref: UMLS:C1846150 "Small corpus callosum" xref: UMLS:C1853378 "Thin corpus callosum" is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor def: "A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [HPO:probinson, pmid:16344298] synonym: "Cerebellar tremor" RELATED [] synonym: "Terminal tremor" RELATED [] xref: UMLS:C0234376 "Intention tremor" is_a: HP:0030186 ! Kinetic tremor [Term] id: HP:0002083 name: Migraine without aura def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [HPO:probinson, pmid:15304572] comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. xref: MeSH:D020326 "Migraine Without Aura" is_a: HP:0002076 ! Migraine [Term] id: HP:0002084 name: Encephalocele alt_id: HP:0002736 alt_id: HP:0100664 def: "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [HPO:probinson] comment: A congenital gap in the skull that usually results in a protrusion of brain material. synonym: "Bifid skull" EXACT [] synonym: "Cranium bifidum" EXACT [] xref: MeSH:D004677 "Encephalocele" xref: UMLS:C0014065 "Encephalocele" is_a: HP:0002011 ! Morphological abnormality of the central nervous system is_a: HP:0011815 ! Cephalocele [Term] id: HP:0002085 name: Occipital encephalocele alt_id: HP:0007051 alt_id: HP:0007357 def: "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [DDD:awilkie, HPO:probinson] synonym: "Occipital meningoencephalocele" EXACT [] synonym: "Posterior encephalocele" EXACT [] xref: UMLS:C0014067 "Occipital Encephalocele" is_a: HP:0002084 ! Encephalocele [Term] id: HP:0002086 name: Abnormality of the respiratory system def: "An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles." [HPO:probinson] synonym: "Respiratory abnormality" EXACT [] xref: UMLS:C1260922 "RESPIRATORY ABNORMALITY" is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `respiratory system` (FMA:7158), which include the airways, lungs, and the respiratory muscles." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002087 name: Abnormality of the upper respiratory tract def: "An abnormality of the upper respiratory tract." [HPO:probinson] is_a: HP:0012252 ! Abnormal respiratory system morphology property_value: HP:0040005 "An abnormality of the `upper respiratory tract` (FMA:45661)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002088 name: Abnormality of the lung def: "An abnormality of the lung." [HPO:probinson] synonym: "Abnormality of the lungs" EXACT [] synonym: "Lung disease" RELATED [] is_a: HP:0012252 ! Abnormal respiratory system morphology property_value: HP:0040005 "An abnormality of the `lung` (FMA:7195)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002089 name: Pulmonary hypoplasia synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] xref: UMLS:C0265783 "Pulmonary hypoplasia" is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0002090 name: Pneumonia def: "Inflammation of any part of the lung parenchyma." [HPO:probinson] xref: MeSH:D011014 "Pneumonia" xref: UMLS:C0032285 "Pneumonia" is_a: HP:0011947 ! Respiratory tract infection [Term] id: HP:0002091 name: Restrictive lung disease xref: UMLS:C0085581 "Restrictive lung disease" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002092 name: Pulmonary hypertension alt_id: HP:0006546 def: "Pulmonary hypertension is defined as a mean pulmonary artery pressure greater than 25 mm Hg during rest (normal level, 10 mm Hg) or greater than 30 mm Hg during exercise (normal level, 15 mm Hg), as determined with right heart catheterization." [HPO:probinson] comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. synonym: "PRIMARY PULMONARY HYPERTENSION" RELATED [HPO:skoehler] synonym: "PULMONARY ARTERIAL HYPERTENSION" RELATED [HPO:skoehler] synonym: "Pulmonary artery hypertension" EXACT [] xref: MeSH:D006976 "Hypertension, Pulmonary" xref: UMLS:C0020542 "Pulmonary Hypertension" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0004890 ! Elevated pulmonary artery pressure [Term] id: HP:0002093 name: Respiratory insufficiency alt_id: HP:0004893 alt_id: HP:0005937 alt_id: HP:0006542 def: "Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide." [HPO:probinson, MeSH:D012131] synonym: "progressive respiratory failure" EXACT [] synonym: "Respiratory function loss" RELATED [] synonym: "Respiratory impairment" EXACT [] xref: MeSH:D012131 "Respiratory Insufficiency" xref: UMLS:C0035229 "Respiratory Insufficiency" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002094 name: Dyspnea def: "Difficult or labored breathing." [HPO:probinson] synonym: "Shortness of breath" RELATED [] xref: MeSH:D004417 "Dyspnea" xref: UMLS:C2024878 "dyspnea" is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002097 name: Emphysema alt_id: HP:0006534 synonym: "Pulmonary emphysema" EXACT [] xref: MeSH:D004646 "Emphysema" xref: UMLS:C0034067 "Emphysema" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002098 name: Respiratory distress xref: UMLS:C0476273 "Respiratory distress" is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002099 name: Asthma alt_id: HP:0002112 def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:probinson] synonym: "Bronchial asthma" EXACT [] synonym: "Reactive airway disease" RELATED [] xref: MeSH:D001249 "Asthma" xref: UMLS:C0004096 "Asthma" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002100 name: Recurrent aspiration pneumonia alt_id: HP:0002106 def: "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [HPO:probinson] xref: MeSH:D011015 "Pneumonia, Aspiration" xref: UMLS:C0747651 "Recurrent aspiration pneumonia" is_a: HP:0011951 ! Aspiration pneumonia [Term] id: HP:0002101 name: Abnormal lung lobation alt_id: HP:0009753 def: "Defects in the formation of pulmonary lobules." [HPO:probinson] synonym: "Defective lung lobation" EXACT [] xref: UMLS:C0685695 "Abnormal lung lobation" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002102 name: Pleuritis def: "Inflammation of the pleura." [HPO:sdoelken] synonym: "Pleurisy" EXACT [HPO:sdoelken] xref: UMLS:C0032231 "Pleurisy" is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002103 name: Abnormality of the pleura def: "An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [HPO:probinson] is_a: HP:0002088 ! Abnormality of the lung property_value: HP:0040005 "An abnormality of the `pulmonary pleura` (FMA:9734), the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002104 name: Apnea alt_id: HP:0005936 alt_id: HP:0005958 def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] synonym: "Absence of spontaneous respiration" EXACT [] synonym: "Apneic episodes" EXACT [] synonym: "Apnoea" EXACT [] xref: MeSH:D001049 "Apnea" xref: UMLS:C1963065 "Apnea" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002105 name: Hemoptysis def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:probinson] xref: MeSH:D006469 "Hemoptysis" xref: UMLS:C0019079 "Hemoptysis" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002107 name: Pneumothorax def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [HPO:probinson] xref: MeSH:D011030 "Pneumothorax" xref: UMLS:C1963215 "Pneumothorax" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002108 name: Spontaneous pneumothorax def: "Pneumothorax occurring without traumatic injury to the chest or lung." [HPO:probinson] xref: UMLS:C0149781 "Spontaneous pneumothorax" is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 name: Abnormality of the bronchi def: "An abnormality of the set of bronchi." [HPO:probinson] synonym: "Bronchial disease" RELATED [] is_a: HP:0005607 ! Abnormality of the tracheobronchial system property_value: HP:0040005 "An abnormality of the `set of bronchi`(FMA:70774)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002110 name: Bronchiectasis def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [HPO:probinson] xref: MeSH:D001987 "Bronchiectasis" xref: UMLS:C0006267 "Bronchiectasis" is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002111 name: Restrictive respiratory insufficiency synonym: "Restrictive deficit on pulmonary function tests" EXACT [] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] xref: UMLS:C1609528 "Restrictive respiratory insufficiency" is_a: HP:0002091 ! Restrictive lung disease is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002113 name: Pulmonary infiltrates synonym: "Pulmonic infiltration" EXACT [] xref: UMLS:C0235896 "Pulmonary infiltrates" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002118 name: Abnormality of the cerebral ventricles def: "Abnormality of the cerebral ventricles." [HPO:probinson] is_a: HP:0012443 ! Abnormality of brain morphology property_value: HP:0040005 "Abnormality of the `cerebral ventricles` (FMA:275917)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002119 name: Ventriculomegaly alt_id: HP:0002447 alt_id: HP:0005691 alt_id: HP:0007071 def: "An increase in size of the ventricular system of the brain." [HPO:probinson] synonym: "Cerebral ventricular dilatation" EXACT [] synonym: "Dilated cerebral ventricle" EXACT [] synonym: "Dilated cerebral ventricles" EXACT [] synonym: "Dilated ventricles" EXACT [] synonym: "Enlarged cerebral ventricles" EXACT [] synonym: "Enlarged ventricles" EXACT [] synonym: "Enlarged ventricular system" EXACT [] synonym: "Large cerebral ventricles and cisternae" EXACT [] synonym: "Ventricular dilatation" EXACT [] xref: UMLS:C1531647 "Ventriculomegaly" is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002120 name: Cerebral cortical atrophy alt_id: HP:0006823 alt_id: HP:0006835 def: "Atrophy of the cortex of the cerebrum." [HPO:probinson] comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. synonym: "Cerebral cortex atrophy" EXACT [] synonym: "Cortical atrophy" EXACT [] xref: UMLS:C1861441 "Cerebral cortical atrophy" is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002121 name: Absence seizures alt_id: HP:0007143 def: "Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures." [HPO:probinson] xref: UMLS:C0014553 "Absence Seizures" is_a: HP:0002197 ! Generalized seizures is_a: HP:0011146 ! Dialeptic seizures property_value: HP:0040005 "Recurrent absence seizures are `generalized seizures` (HP:0002197) and are characterized by a loss of consciousness, thus, are a form of `dialeptic seizures` (HP:0011146)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002123 name: Generalized myoclonic seizures alt_id: HP:0006869 alt_id: HP:0006902 alt_id: HP:0007075 alt_id: HP:0007202 alt_id: HP:0007284 alt_id: HP:0007294 def: "Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal)." [HPO:jalbers] synonym: "Myoclonic epilepsy, progressive" RELATED [] synonym: "Myoclonic seizures" BROAD [] synonym: "Myoclonus seizures" EXACT [] xref: UMLS:C0014550 "Myoclonic seizures" is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002126 name: Polymicrogyria def: "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:probinson] comment: Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. xref: UMLS:C0266464 "Polymicrogyria" is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0002127 name: Abnormal upper motor neuron morphology def: "Any structural anomaly that affects the upper motor neuron." [] is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0002131 name: Episodic ataxia alt_id: HP:0007152 alt_id: HP:0007214 def: "Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n" [HPO:probinson] synonym: "Intermittent cerebellar ataxia" EXACT [] synonym: "Paroxysmal ataxia" EXACT [] xref: UMLS:C1856190 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002132 name: Porencephaly def: "A disorder of the brain in which a cyst or cavity filled with cerebrospinal fluid develops in the cerebral hemisphere." [HPO:probinson] comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. xref: UMLS:C1867983 "Porencephaly" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002133 name: Status epilepticus def: "Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures." [HPO:jalbers] xref: MeSH:D013226 "Status Epilepticus" xref: UMLS:C0038220 "Status Epilepticus" is_a: HP:0001250 ! Seizures [Term] id: HP:0002134 name: Abnormality of the basal ganglia alt_id: HP:0006952 alt_id: HP:0007257 def: "Abnormality of the basal ganglia." [HPO:probinson] comment: The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. synonym: "Anomaly of the basal ganglia" EXACT [] synonym: "Basal ganglia disease" EXACT [] is_a: HP:0010993 ! Abnormality of the cerebral subcortex property_value: HP:0040005 "Abnormality of the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002135 name: Basal ganglia calcification alt_id: HP:0002485 def: "The presence of calcium deposition affecting one or more structures of the basal ganglia." [HPO:probinson] synonym: "Basal ganglia calcifications" EXACT [] synonym: "Basal ganglion calcification" EXACT [] synonym: "Calcification of the basal ganglia" EXACT [] xref: UMLS:C1389280 "Basal ganglia calcification" is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002514 ! Cerebral calcification property_value: HP:0040005 "The presence of `calcium deposition` (MPATH:36) affecting one or more structures of the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002136 name: Broad-based gait def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] synonym: "Broad based gait" EXACT [] synonym: "Wide based gait" EXACT [] synonym: "Wide-based gait" EXACT [] xref: UMLS:C1836917 "Broad-based gait" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002138 name: Subarachnoid hemorrhage def: "Hemorrhage occurring between the arachnoid mater and the pia mater." [HPO:sdoelken] comment: Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. synonym: "Subarachnoid haemorrhage" EXACT [] xref: MeSH:D013345 "Subarachnoid Hemorrhage" xref: UMLS:C0038525 "SUBARACHNOID HAEMORRHAGE" is_a: HP:0002170 ! Intracranial hemorrhage is_a: HP:0012703 ! Abnormality of the subarachnoid space property_value: HP:0040005 "`Hemorrhage` (MPATH:119) occurring between the `arachnoid mater` (FMA:9591) and the `pia mater` (FMA:9590)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0002139 name: Arrhinencephaly xref: UMLS:C0078982 "Arhinencephaly" is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002140 name: Ischemic stroke xref: UMLS:C0948008 "Ischaemic stroke NOS" is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia [Term] id: HP:0002141 name: Gait imbalance alt_id: HP:0100683 synonym: "Abnormality of balance" EXACT [] synonym: "Abnormality of equilibrium" EXACT [] xref: UMLS:C1836150 "Gait imbalance" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002143 name: Abnormality of the spinal cord def: "An abnormality of the spinal cord (myelon)." [HPO:probinson] synonym: "Spinal cord disease" RELATED [] is_a: HP:0002011 ! Morphological abnormality of the central nervous system property_value: HP:0040005 "An abnormality of the `spinal cord` (FMA:7647) (myelon)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002144 name: Tethered cord def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] xref: UMLS:C1850322 "Tethered cord" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002145 name: Frontotemporal dementia def: "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. " [HPO:probinson, pmid:24966676] xref: MeSH:D057180 "Frontotemporal Dementia" xref: UMLS:C0338451 "Frontotemporal dementia" is_a: HP:0000726 ! Dementia [Term] id: HP:0002148 name: Hypophosphatemia def: "An abnormally decreased phosphate concentration in the blood." [HPO:gcarletti] synonym: "Hypophosphataemia" EXACT [] xref: MeSH:D017674 "Hypophosphatemia" xref: UMLS:C0085682 "Hypophosphatemia" is_a: HP:0100529 ! Abnormality of phosphate homeostasis property_value: HP:0040005 "An abnormally decreased `phosphate` (CHEBI:18367) concentration in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0002149 name: Hyperuricemia def: "An abnormally high level of uric acid in the blood." [HPO:probinson] synonym: "Hyperuricaemia" EXACT [] xref: MeSH:D033461 "Hyperuricemia" xref: UMLS:C0740394 "HYPERURICAEMIA" is_a: HP:0002157 ! Azotemia property_value: HP:0040005 "An abnormally high level of `uric acid` (CHEBI:27226) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002150 name: Hypercalciuria synonym: "Hypercalcinuria" EXACT [] xref: MeSH:D053565 "Hypercalciuria" xref: UMLS:C0020438 "Hypercalciuria" is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0002151 name: Increased serum lactate alt_id: HP:0003638 def: "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:probinson] synonym: "Increased blood lactate" EXACT [] xref: UMLS:C1836440 "Increased serum lactate" is_a: HP:0001941 ! Acidosis property_value: HP:0040005 "Abnormally increased level of blood `lactate` (CHEBI:24996) (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002152 name: Hyperproteinemia def: "An increased concentration of proteins in the blood." [HPO:gcarletti] xref: UMLS:C0267988 "HYPERPROTEINAEMIA" is_a: HP:0010876 ! Abnormality of circulating protein level property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `proteins` (CHEBI:36080) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0002153 name: Hyperkalemia def: "An abnormally increased potassium concentration in the blood." [HPO:probinson] xref: MeSH:D006947 "Hyperkalemia" xref: UMLS:C0020461 "HYPERKALAEMIA" is_a: HP:0011042 ! Abnormality of potassium homeostasis property_value: HP:0040005 "An abnormally increased `potassium` (CHEBI:29103) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002154 name: Hyperglycinemia def: "An elevated concentration of glycine in the blood." [HPO:gcarletti, pmid:16902722, pmid:4696900] comment: Normal blood glycine levels are around 200-250 micromole per liter. synonym: "Hyperglycinaemia" EXACT [] xref: UMLS:C0268559 "Hyperglycinaemia" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010895 ! Abnormality of glycine metabolism property_value: HP:0040005 "An elevated concentration of `glycine` (CHEBI:15428) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti", xref="pmid:16902722", xref="pmid:4696900"} [Term] id: HP:0002155 name: Hypertriglyceridemia alt_id: HP:0003082 alt_id: HP:0008174 alt_id: HP:0008332 def: "An abnormal increase in the level of triglycerides in the blood." [HPO:probinson] synonym: "Increased plasma triglycerides" EXACT [] synonym: "Increased serum triglycerides" EXACT [] synonym: "Increased triglycerides" EXACT [] xref: MeSH:D015228 "Hypertriglyceridemia" xref: UMLS:C0858041 "Increased plasma triglycerides" is_a: HP:0003077 ! Hyperlipidemia property_value: HP:0040005 "An abnormal increase in the level of `triglycerides` (CHEBI:17855) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002156 name: Homocystinuria def: "An increased concentration of homocystine in the urine." [HPO:gcarletti] comment: Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. xref: MeSH:D006712 "Homocystinuria" xref: UMLS:C1439329 "HOMOCYSTINURIA" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010919 ! Abnormality of homocysteine metabolism property_value: HP:0040005 "An increased concentration of `homocystine` (CHEBI:17485) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0002157 name: Azotemia def: "An increased concentration of nitrogen compounds in the blood." [HPO:gcarletti] comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. synonym: "Azotaemia" EXACT [] xref: MeSH:D053099 "Azotemia" xref: UMLS:C0554309 "Azotaemia" is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis property_value: HP:0040005 "An increased concentration of `nitrogen compounds` (CHEBI:51143) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0002159 name: Heparan sulfate excretion in urine def: "An increased concentration of heparan sulfates in the urine." [HPO:probinson] is_a: HP:0008155 ! Mucopolysacchariduria property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `heparan sulfates` (CHEBI:35721) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002160 name: Hyperhomocystinemia def: "An increased concentration of homocystine in the blood." [HPO:gcarletti] comment: Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine).\nHyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. synonym: "Homocystinemia" EXACT [] xref: UMLS:C0268617 "Homocystinaemia" is_a: HP:0010919 ! Abnormality of homocysteine metabolism property_value: HP:0040005 "An increased concentration of `homocystine` (CHEBI:17485) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0002161 name: Hyperlysinemia def: "An increased concentration of lysine in the blood." [HPO:gcarletti, pmid:4696900] comment: Normal blood lysine levels are around 180-200 micromole per liter. xref: MeSH:D020167 "Hyperlysinemias" xref: UMLS:C0268553 "Hyperlysinaemia" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010908 ! Abnormality of lysine metabolism property_value: HP:0040005 "An increased concentration of `lysine` (CHEBI:25094) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti", xref="pmid:4696900"} [Term] id: HP:0002162 name: Low posterior hairline def: "Hair on the neck extends more inferiorly than usual." [pmid:19125436] comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. subset: hposlim_core synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1865008 "Low posterior hairline" is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0030141 ! Abnormality of the posterior hairline [Term] id: HP:0002164 name: Nail dysplasia alt_id: HP:0001793 alt_id: HP:0001794 alt_id: HP:0001797 alt_id: HP:0008387 alt_id: HP:0008403 alt_id: HP:0008409 alt_id: HP:0008412 def: "The presence of developmental dysplasia of the nail." [HPO:probinson] synonym: "Dysplastic nails" EXACT [] synonym: "Onychodysplasia" EXACT [] xref: UMLS:C1834405 "NAIL DYSPLASIA" is_a: HP:0001597 ! Abnormality of the nail property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `nail` (FMA:54326)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002165 name: Pterygium formation (nails) is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002166 name: Impaired vibration sensation in the lower limbs def: "A decrease in the ability to perceive vibration in the legs." [HPO:curators] synonym: "Decreased lower limb vibratory sense" EXACT [] synonym: "Decreased vibratory sense in lower limbs" EXACT [] synonym: "Decreased vibratory sense in the lower extremities" EXACT [] synonym: "Decreased vibratory sense in the lower limbs" EXACT [] synonym: "Diminished vibratory sensation in the legs" EXACT [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0002167 name: Neurological speech impairment synonym: "Speech disorder" EXACT [] synonym: "Speech impairment" EXACT [] synonym: "Speech impediment" EXACT [] xref: UMLS:C0037822 "SPEECH DISORDER" is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002168 name: Scanning speech xref: UMLS:C0278184 "Scanning speech" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002169 name: Clonus def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [HPO:probinson] comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. xref: UMLS:C0009024 "Clonus" is_a: HP:0001347 ! Hyperreflexia is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002170 name: Intracranial hemorrhage def: "Hemorrhage occurring within the skull." [HPO:gcarletti] xref: MeSH:D020300 "Intracranial hemorrhage" xref: UMLS:C0151699 "Intracranial hemorrhage" is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0100659 ! Abnormality of the cerebral vasculature property_value: HP:0040005 "`Hemorrhage` (MPATH:119) occurring within the `skull` (FMA:46565)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0002171 name: Gliosis def: "The presence of gliosis in the central nervous system." [HPO:sdoelken] synonym: "Cerebral gliosis" EXACT [] xref: MeSH:D005911 "Gliosis" xref: UMLS:C0017639 "Gliosis" is_a: HP:0100705 ! Abnormality of the glial cells property_value: HP:0040005 "The presence of `gliosis` (MPATH:182) in the `central nervous system` (FMA:55675)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0002172 name: Postural instability xref: UMLS:C1843921 "Postural instability" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002173 name: Hypoglycemic seizures is_a: HP:0001943 ! Hypoglycemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002174 name: Postural tremor alt_id: HP:0006925 alt_id: HP:0007197 def: "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:probinson] synonym: "TREMOR, POSTURAL" RELATED [HPO:skoehler] xref: UMLS:C0234378 "Postural tremor" is_a: HP:0002345 ! Action tremor [Term] id: HP:0002176 name: Spinal cord compression def: "External mechanical compression of the spinal cord." [HPO:probinson] comment: Clinical abnormalities vary according to the site of the compression\nany may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. xref: MeSH:D013117 "Spinal Cord Compression" xref: UMLS:C0037926 "Spinal Cord Compression" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002179 name: Opisthotonus comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. synonym: "Opisthotonos" EXACT [] xref: UMLS:C0151818 "OPISTHOTONOS" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002180 name: Neurodegeneration def: "Progressive loss of neural cells and tissue." [HPO:probinson] synonym: "Neuro-degenerative disease" RELATED [] synonym: "Neurodegenerative disease" RELATED [] synonym: "Progressive neurodegenerative disorder" RELATED [] is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002181 name: Cerebral edema def: "Abnormal accumulation of fluid in the brain." [HPO:curators] synonym: "Brain edema" EXACT [] synonym: "Brain oedema" EXACT [] xref: MeSH:D001929 "Brain Edema" xref: UMLS:C0006114 "Cerebral Edema" is_a: HP:0000969 ! Edema is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002183 name: Phonophobia def: "An abnormally heightened sensitivity to loud sounds." [HPO:probinson] comment: Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. xref: UMLS:C0751466 "Phonophobia" is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0002185 name: Neurofibrillary tangles alt_id: HP:0003132 alt_id: HP:0007070 def: "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [HPO:sdoelken] synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT [] synonym: "Paired helical filaments" EXACT [] xref: MeSH:D016874 "Neurofibrillary Tangles" xref: UMLS:C0085400 "Neurofibrillary Tangles" is_a: HP:0100314 ! Cerebral inclusion bodies [Term] id: HP:0002186 name: Apraxia def: "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:probinson] synonym: "Apraxias" RELATED [] xref: UMLS:C0003635 "Apraxia" is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002187 name: Intellectual disability, profound def: "Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:probinson] comment: Persons with profound mental retardation generally require constant care. synonym: "Mental retardation, profound" EXACT [] synonym: "Profound mental retardation" EXACT [] xref: UMLS:C0020796 "Profound Mental Retardation" is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002188 name: Delayed CNS myelination alt_id: HP:0005770 alt_id: HP:0006974 alt_id: HP:0007300 def: "Delayed myelination in the central nervous system." [HPO:probinson] comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. synonym: "Delay in central nervous system myelination" EXACT [] is_a: HP:0011400 ! Abnormal CNS myelination is_a: HP:0012448 ! Delayed myelination property_value: HP:0040005 "`Delayed` (PATO:0000502) `myelination` (GO:0042552) in the central nervous system." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002189 name: Excessive daytime sleepiness xref: UMLS:C0694563 "Excessive daytime sleepiness" is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0002190 name: Choroid plexus cyst def: "A cyst occurring within the choroid plexus within a cerebral ventricle." [HPO:probinson] comment: Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. xref: UMLS:C0338597 "Choroid plexus cyst" is_a: HP:0007376 ! Abnormality of the choroid plexus property_value: HP:0040005 "A cyst occurring within the `choroid plexus` (FMA:61934) within a cerebral ventricle." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002191 name: Progressive spasticity def: "Spasticity that increases in degree with time." [HPO:probinson] synonym: "Spasticity, progressive" EXACT [] is_a: HP:0001257 ! Spasticity [Term] id: HP:0002193 name: Pseudobulbar behavioral symptoms def: "Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] xref: UMLS:C0004941 "Behavioral Symptoms" is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0002200 ! Pseudobulbar signs property_value: HP:0040005 "Individuals with `Pseudobulbar signs` (HP:0002200) often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0002194 name: Delayed gross motor development alt_id: HP:0006905 alt_id: HP:0007046 alt_id: HP:0008973 def: "A type of motor delay characterized by an delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [HPO:probinson] synonym: "Delayed gross motor skills" EXACT [] synonym: "Delayed motor skills" EXACT [] synonym: "Developmental delay, gross motor" EXACT [] synonym: "Gross motor delay" EXACT [] synonym: "Limited gross motor development" EXACT [] xref: UMLS:C1837658 "Delayed gross motor development" is_a: HP:0001270 ! Motor delay property_value: HP:0040005 "A type of `motor delay` (HP:0001270) characterized by an delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002195 name: Dysgenesis of the cerebellar vermis def: "Defective development of the vermis of cerebellum." [HPO:probinson] comment: Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. is_a: HP:0002334 ! Abnormality of the cerebellar vermis property_value: HP:0040005 "Defective development of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002196 name: Myelopathy xref: UMLS:C0037928 "Myelopathy" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002197 name: Generalized seizures alt_id: HP:0002409 alt_id: HP:0007114 alt_id: HP:0007339 def: "Seizures of with initial involvement of both cerebral hemispheres." [HPO:probinson] comment: Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic. synonym: "Generalized seizures, recurrent" EXACT [] synonym: "Infrequent generalized seizures" EXACT [] synonym: "Seizures, generalized, afebrile" EXACT [] xref: UMLS:C0234533 "Generalized seizures" is_a: HP:0001250 ! Seizures [Term] id: HP:0002198 name: Dilated fourth ventricle alt_id: HP:0007223 def: "An abnormal dilatation of the fourth cerebral ventricle." [HPO:probinson] synonym: "Enlarged fourth ventricle" EXACT [] xref: UMLS:C1855679 "Enlarged fourth ventricle" is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0010950 ! Abnormality of the fourth ventricle property_value: HP:0040005 "An abnormal dilatation of the `fourth cerebral ventricle` (FMA:78469)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002199 name: Hypocalcemic seizures synonym: "Seizures due to hypocalcemia" EXACT [] is_a: HP:0002901 ! Hypocalcemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002200 name: Pseudobulbar signs def: "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] synonym: "Pseudobulbar symptoms" EXACT [] xref: UMLS:C1838579 "Pseudobulbar signs" is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002202 name: Pleural effusion def: "The presence of an excessive amount of fluid in the pleural cavity." [HPO:probinson] xref: MeSH:D010996 "Pleural Effusion" xref: UMLS:C1253943 "Pleural effusion" is_a: HP:0000969 ! Edema is_a: HP:0002103 ! Abnormality of the pleura property_value: HP:0040005 "The presence of an excessive amount of fluid in the `pleural cavity` (FMA:9740)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002203 name: Respiratory paralysis def: "Inability to move the muscles of respiration." [HPO:probinson] xref: MeSH:D012133 "Respiratory Paralysis" xref: UMLS:C0035232 "Diaphragmatic Paralysis" is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002204 name: Pulmonary embolism xref: MeSH:D011655 "Pulmonary Embolism" xref: UMLS:C0034065 "Pulmonary Embolism" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002205 name: Recurrent respiratory infections alt_id: HP:0002782 alt_id: HP:0002873 def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] synonym: "Frequent respiratory infections" EXACT [] synonym: "Multiple respiratory infections" EXACT [] synonym: "respiratory infections, recurrent" EXACT [HPO:skoehler] synonym: "Susceptibility to respiratory infections" EXACT [] xref: UMLS:C1866203 "Recurrent respiratory infections" is_a: HP:0002719 ! Recurrent infections is_a: HP:0011947 ! Respiratory tract infection [Term] id: HP:0002206 name: Pulmonary fibrosis alt_id: HP:0006523 def: "Replacement of normal lung tissues are progressively replaced by fibroblasts and collagen." [DDD:tkuijpers, HPO:probinson] comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. xref: MeSH:D011658 "Pulmonary fibrosis" xref: UMLS:C0034069 "Pulmonary Fibrosis" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002207 name: Diffuse reticular or finely nodular infiltrations is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002208 name: Coarse hair alt_id: HP:0200078 def: "Hair shafts are rough in texture." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:48610005 "Coarse hair" xref: UMLS:C0277959 "Coarse hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002209 name: Sparse scalp hair alt_id: HP:0002233 alt_id: HP:0002556 alt_id: HP:0004534 alt_id: HP:0004541 alt_id: HP:0004542 alt_id: HP:0004772 alt_id: HP:0004774 alt_id: HP:0004775 def: "Decreased number of head hairs per unit area." [pmid:19125436] comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. synonym: "Scalp hair, thinning" EXACT [] synonym: "Sparse, thin scalp hair" EXACT [] synonym: "sparse-absent scalp hair" EXACT [] synonym: "Thin scalp hair" RELATED [] xref: UMLS:C1857042 "Sparse scalp hair" xref: UMLS:C1859465 "Sparse-absent scalp hair" is_a: HP:0008070 ! Sparse hair is_a: HP:0100037 ! Abnormality of the scalp hair property_value: HP:0040005 "Decreased number of `head hairs` (FMA:54241) per unit area." xsd:string {xref="pmid:19125436"} [Term] id: HP:0002211 name: White forelock def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [DDD:probinson] subset: hposlim_core xref: SNOMEDCT:247564004 "White forelock" xref: UMLS:C0344312 "White forelock" is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002212 name: Curly hair xref: UMLS:C0558165 "Curly hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002213 name: Fine hair alt_id: HP:0200132 def: "Hair that is fine or thin to the touch." [HPO:probinson] subset: hposlim_core xref: UMLS:C0423867 "Fine hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002215 name: Sparse axillary hair alt_id: HP:0004514 alt_id: HP:0004518 alt_id: HP:0004545 def: "Reduced number or density of axillary hair." [HPO:probinson] synonym: "Sparse axillary and pubic hair" EXACT [] synonym: "Sparse scalp, axillary, and pubic hair" EXACT [] synonym: "sparse to absent axillary hair" EXACT [] xref: UMLS:C1858574 "Sparse axillary hair" is_a: HP:0008070 ! Sparse hair is_a: HP:0100134 ! Abnormality of the axillary hair property_value: HP:0040005 "Reduced number or density of `axillary hair` (FMA:54253)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002216 name: Premature graying of hair def: "Development of gray hair at a younger than normal age." [HPO:probinson] subset: hposlim_core synonym: "Early graying" EXACT [] synonym: "Premature graying" EXACT [] synonym: "PREMATURE GRAYING OF THE HAIR" RELATED [HPO:skoehler] synonym: "Premature greying" EXACT [] synonym: "Premature hair graying" EXACT [] xref: UMLS:C0263498 "Premature graying" is_a: HP:0007495 ! Prematurely aged appearance is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002217 name: Slow-growing hair alt_id: HP:0004767 alt_id: HP:0004770 alt_id: HP:0004781 def: "Hair whose growth is slower than normal." [HPO:probinson] subset: hposlim_core synonym: "Slow growing hair" EXACT [] xref: UMLS:C1832348 "Slow-growing hair" is_a: HP:0011363 ! Abnormality of hair growth rate [Term] id: HP:0002218 name: Silver-gray hair def: "Hypopigmented hair that appears silver-gray." [HPO:probinson] synonym: "Silver-gray hair color" EXACT [] synonym: "Silvery-gray hair" EXACT [] xref: UMLS:C1836576 "Silver-gray hair" is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002219 name: Facial hypertrichosis xref: UMLS:C1851400 "FACIAL HYPERTRICHOSIS" is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0002220 name: Melanin pigment aggregation in hair shafts is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002221 name: Absent axillary hair alt_id: HP:0004549 def: "Absence of axillary hair." [HPO:probinson] xref: UMLS:C1859392 "Absent axillary hair" is_a: HP:0002298 ! Absent hair is_a: HP:0100134 ! Abnormality of the axillary hair property_value: HP:0040005 "Absence of `axillary hair` (FMA:54253)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002223 name: Absent eyebrow def: "Absence of the eyebrow." [HPO:probinson] subset: hposlim_core synonym: "Absent eyebrows" EXACT [] xref: UMLS:C1844604 "Scand-absent eyebrows" is_a: HP:0002298 ! Absent hair is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow property_value: HP:0040005 "Absence of the `eyebrow` (FMA:54237)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002224 name: Woolly hair subset: hposlim_core xref: MEDRA:10048017 "Wooly hair" xref: SNOMEDCT:52564001 "Wooly hair" xref: UMLS:C0343073 "Woolly hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002225 name: Sparse pubic hair alt_id: HP:0004778 def: "Reduced number or density of pubic hair." [HPO:probinson] subset: hposlim_core synonym: "Decreased sexual hair" EXACT [] synonym: "sparse to absent pubic hair" EXACT [] xref: UMLS:C1858573 "Sparse pubic hair" is_a: HP:0008070 ! Sparse hair is_a: HP:0100133 ! Abnormality of the pubic hair property_value: HP:0040005 "Reduced number or density of `pubic hair`(FMA:54319)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002226 name: White eyebrow alt_id: HP:0002228 alt_id: HP:0004536 def: "White color (lack of pigmentation) of the eyebrow." [HPO:probinson] subset: hposlim_core is_a: HP:0000534 ! Abnormality of the eyebrow is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002227 name: White eyelashes def: "White color (lack of pigmentation) of the eyelashes." [DDD:cmoss] xref: UMLS:C1836736 "White eyelashes" is_a: HP:0000499 ! Abnormality of the eyelashes is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002229 name: Alopecia areata def: "Loss of round patches of scalp hair." [HPO:probinson] comment: In alopecia areata, round bald patches can appear suddenly. xref: MeSH:D000506 "Alopecia Areata" xref: UMLS:C0002171 "Alopecia Areata" is_a: HP:0001596 ! Alopecia is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002230 name: Generalized hirsutism def: "Abnormally increased hair growth over much of the entire body." [HPO:curators] xref: UMLS:C1849211 "Generalized hirsutism" is_a: HP:0001007 ! Hirsutism [Term] id: HP:0002231 name: Sparse body hair def: "Sparseness of the body hair." [HPO:probinson] subset: hposlim_core xref: UMLS:C1862863 "Sparse body hair" is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002232 name: Patchy alopecia xref: UMLS:C1862862 "Patchy alopecia" is_a: HP:0001596 ! Alopecia [Term] id: HP:0002234 name: Early balding def: "Loss of scalp hair at an earlier than normal age." [HPO:probinson] is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002235 name: Pili canaliculi alt_id: HP:0002285 def: "Uncombable hair." [HPO:probinson] xref: UMLS:C1860608 "Pili canaliculi" is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0002236 name: Frontal upsweep of hair def: "Upward and/or sideward growth of anterior hair." [pmid:19125436] subset: hposlim_core synonym: "Cowlick" EXACT [] synonym: "Upswept frontal hair" EXACT [] synonym: "UPSWEPT FRONTAL HAIR PATTERN" RELATED [HPO:skoehler] synonym: "UPSWEPT FRONTAL HAIRLINE" RELATED [HPO:skoehler] is_a: HP:0010721 ! Abnormal hair whorl [Term] id: HP:0002239 name: Gastrointestinal hemorrhage def: "Hemorrhage affecting the gastrointestinal tract." [HPO:probinson] synonym: "Gastrointestinal bleeding" EXACT [] synonym: "GI haemorrhage" EXACT [] synonym: "GI hemorrhage" EXACT [] xref: MeSH:D006471 "Gastrointestinal Hemorrhage" xref: UMLS:C1880931 "Hemorrhage, GI" is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: HP:0040005 "`Hemorrhage` (MPATH:119) affecting the `gastrointestinal tract` (FMA:71132)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002240 name: Hepatomegaly alt_id: HP:0001393 alt_id: HP:0001398 def: "Abnormally increased size of the liver." [HPO:probinson] synonym: "Enlarged liver" EXACT [] xref: MeSH:D006529 "Hepatomegaly" xref: UMLS:C0019209 "Hepatomegaly" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0003271 ! Visceromegaly property_value: HP:0040005 "Abnormally `increased size` (PATO:0000586) of the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002242 name: Abnormality of the intestine alt_id: HP:0002628 def: "An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine." [HPO:probinson] synonym: "Enteropathy" EXACT [] xref: UMLS:C0021831 "Enteropathy" is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract property_value: HP:0040005 "An abnormality of the `intestine` (FMA:7199). The closely related term enteropathy is used to refer to any disease of the intestine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002243 name: Protein-losing enteropathy def: "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract." [HPO:probinson] comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. xref: MeSH:D011504 "Protein-Losing Enteropathies" xref: UMLS:C0033680 "Protein-Losing Enteropathy" is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002244 name: Abnormality of the small intestine def: "An abnormality of the small intestine." [HPO:probinson] is_a: HP:0002242 ! Abnormality of the intestine property_value: HP:0040005 "An abnormality of the `small intestine` (FMA:7200)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002245 name: Meckel diverticulum def: "Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [HPO:probinson] xref: MEDRA:10027055 "Meckel's diverticulum" xref: MeSH:D008467 "Meckel Diverticulum" xref: UMLS:C0025037 "Meckel's Diverticulum" is_a: HP:0001549 ! Abnormality of the ileum [Term] id: HP:0002246 name: Abnormality of the duodenum def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [HPO:probinson] subset: hposlim_core is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002247 name: Duodenal atresia def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:probinson] subset: hposlim_core xref: MEDRA:10013812 "Duodenal atresia" xref: SNOMEDCT:51118003 "Congenital atresia of duodenum" xref: UMLS:C0266174 "Duodenal atresia" is_a: HP:0002246 ! Abnormality of the duodenum is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0002248 name: Hematemesis def: "The vomiting of blood." [HPO:probinson] comment: The source of hematemesis is generally the upper gastrointestinal tract. xref: MeSH:D006396 "Hematemesis" xref: UMLS:C0018926 "HAEMATEMESIS" is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002249 name: Melena def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [HPO:probinson] xref: MeSH:D008551 "Melena" xref: UMLS:C0474585 "melena" is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002250 name: Abnormality of the large intestine def: "Any abnormality of the large intestine." [HPO:probinson] comment: The large intestine comprises the cecum and colon. is_a: HP:0002242 ! Abnormality of the intestine property_value: HP:0040005 "Any abnormality of the `large intestine` (FMA:7201)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002251 name: Aganglionic megacolon alt_id: HP:0002029 alt_id: HP:0002030 alt_id: HP:0002606 alt_id: HP:0004391 def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:probinson, pmid:17965226] comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. subset: hposlim_core synonym: "Congenital megacolon" EXACT [] synonym: "Hirschsprung disease" EXACT [] synonym: "Hirschsprung megacolon" EXACT [] synonym: "Megacolon" EXACT [] xref: MEDRA:10027110 "Megacolon" xref: MeSH:D006627 "Hirschsprung Disease" xref: SNOMEDCT:33995003 "Megacolon" xref: UMLS:C0025160 "Megacolon" is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002253 name: Colonic diverticulosis alt_id: HP:0005860 def: "The presence of multiple diverticula of the colon." [HPO:probinson] subset: hposlim_core synonym: "Colon diverticula" EXACT [] synonym: "Colonic diverticula" EXACT [] xref: MEDRA:10009993 "Colonic diverticulosis" xref: MeSH:D043963 "Diverticulosis, Colonic" xref: SNOMEDCT:398050005 "Diverticular disease of colon" xref: UMLS:C0012811 "Colonic Diverticula" is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0005222 ! Bowel diverticulosis property_value: HP:0040005 "The presence of `multiple` (PATO:0002118) `diverticula` (MPATH:68) of the colon." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002254 name: Intermittent diarrhea xref: UMLS:C0239181 "Intermittent diarrhea" is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002256 name: Small bowel diverticula subset: hposlim_core xref: MEDRA:10013533 "Diverticula of small intestine" xref: SNOMEDCT:8114009 "Diverticulosis of small intestine" xref: UMLS:C0267498 "Diverticulosis of small intestine" is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002257 name: Chronic rhinitis def: "Chronic inflammation of the nasal mucosa." [HPO:probinson] xref: UMLS:C0008711 "Chronic rhinitis NOS" is_a: HP:0012384 ! Rhinitis [Term] id: HP:0002263 name: Exaggerated cupid's bow def: "More pronounced paramedian peaks and median notch of the Cupid's bow." [pmid:19125428] comment: This may be associated with a Deep philtrum, but that finding should be coded separately. subset: hposlim_core synonym: "Cupid bow upper lip" EXACT [] synonym: "Cupid-bow shaped upper lip" EXACT [] synonym: "Prominent cupid-bow of upper lip" EXACT [] synonym: "Synonym: Cupid's bow, accentuated" EXACT [] xref: UMLS:C1850629 "Cupid bow upper lip" is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0002265 name: Large fleshy ears xref: UMLS:C0554972 "Large ears" is_a: HP:0000400 ! Macrotia [Term] id: HP:0002266 name: Focal clonic seizures xref: UMLS:C0752323 "Focal Clonic Seizures" is_a: HP:0011153 ! Focal motor seizures [Term] id: HP:0002267 name: Exaggerated startle response def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators] synonym: "Exaggerated acoustic startle response" EXACT [] synonym: "Hyperekplexia" RELATED [] synonym: "Increased startle response" EXACT [] xref: UMLS:C1740801 "Exaggerated startle response" is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002268 name: Paroxysmal dystonia alt_id: HP:0002412 def: "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [HPO:probinson] synonym: "Episodic dystonia" EXACT [] is_a: HP:0001332 ! Dystonia [Term] id: HP:0002269 name: Abnormality of neuronal migration alt_id: HP:0007317 def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [HPO:probinson] synonym: "Abnormal neuronal migration" EXACT [] synonym: "Heterotopias/abnormal migration" EXACT [] synonym: "Migrational brain disorder" EXACT [] synonym: "Neuronal migration disorder" EXACT [] xref: MeSH:D054081 "Neuronal Migration Disorders" xref: UMLS:C1837249 "Neuronal migration disorder" is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0002270 name: Abnormality of the autonomic nervous system def: "An abnormality of the autonomic nervous system." [HPO:probinson] comment: The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. is_a: HP:0012639 ! Abnormality of nervous system morphology property_value: HP:0040005 "An abnormality of the `autonomic nervous system` (FMA:9905)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002271 name: Autonomic dysregulation def: "An abnormality of the regulation of the autonomic nervous system." [HPO:probinson] xref: UMLS:C1836729 "Autonomic dysregulation" is_a: HP:0012332 ! Abnormal autonomic nervous system physiology property_value: HP:0040005 "An abnormality of the regulation of the `autonomic nervous system` (FMA:9905)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002273 name: Tetraparesis alt_id: HP:0002338 def: "Weakness of all four limbs." [HPO:probinson] comment: Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. synonym: "Quadriparesis" EXACT [] xref: UMLS:C0270790 "Tetraparesis" is_a: HP:0030182 ! Tetraplegia/tetraparesis [Term] id: HP:0002275 name: Poor motor coordination xref: UMLS:C1848453 "Poor motor coordination" is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002277 name: Horner syndrome alt_id: HP:0000596 def: "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [HPO:probinson] comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. synonym: "Horner's syndrome" EXACT [] xref: MeSH:D006732 "Horner Syndrome" xref: UMLS:C0019937 "Horner Syndrome" is_a: HP:0000508 ! Ptosis is_a: HP:0000616 ! Miosis is_a: HP:0012332 ! Abnormal autonomic nervous system physiology [Term] id: HP:0002280 name: Enlarged cisterna magna def: "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [HPO:probinson] comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. synonym: "Large cisterna magna" EXACT [] xref: UMLS:C1853377 "Enlarged cisterna magna" is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0002281 name: Gray matter heterotopias def: "Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation." [DDD:ssisodiya, HPO:curators] xref: UMLS:C1839544 "Gray matter heterotopias" is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0002282 ! Heterotopia [Term] id: HP:0002282 name: Heterotopia synonym: "Heterotopias" EXACT [] xref: UMLS:C0008519 "Ectopia, NOS" is_a: HP:0002269 ! Abnormality of neuronal migration [Term] id: HP:0002283 name: Global brain atrophy alt_id: HP:0002369 alt_id: HP:0002462 def: "Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size." [HPO:sdoelken] comment: Global brain atrophy can be visualized and quantified by magnetic resonance imaging. synonym: "Diffuse brain atrophy" EXACT [] synonym: "Generalized brain atrophy" EXACT [] synonym: "Generalized cerebral atrophy" EXACT [] xref: UMLS:C0241816 "Diffuse brain atrophy" is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012444 ! Brain atrophy [Term] id: HP:0002286 name: Fair hair alt_id: HP:0002214 alt_id: HP:0002294 def: "A lesser degree of hair pigmentation than would otherwise be expected." [DDD:cmoss] comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. synonym: "Blond hair" EXACT [] synonym: "Light colored hair" EXACT [] xref: UMLS:C0239801 "Blonde hair" xref: UMLS:C1849221 "Fair hair" xref: UMLS:C1858571 "Light colored hair" is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002287 name: Progressive alopecia def: "Progressive loss of hair." [HPO:probinson] xref: UMLS:C1851885 "Progressive alopecia" is_a: HP:0001596 ! Alopecia [Term] id: HP:0002289 name: Alopecia universalis alt_id: HP:0004550 def: "Loss of all hair on the entire body." [HPO:probinson] synonym: "Alopecia, complete" EXACT [] is_a: HP:0001596 ! Alopecia [Term] id: HP:0002290 name: Poliosis def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [HPO:probinson] synonym: "Patch of white hair." EXACT [] synonym: "White patch" EXACT [] xref: UMLS:C0221262 "Poliosis" is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002292 name: Frontal balding def: "Absence of hair in the anterior midline and/or parietal areas." [pmid:19125436] subset: hposlim_core synonym: "Frontal balding (male pattern baldness)" EXACT [] is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002293 name: Alopecia of scalp is_a: HP:0001596 ! Alopecia is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002296 name: Progressive hypotrichosis def: "Progressively reduced or lacking hair growth." [HPO:curators] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002297 name: Red hair xref: UMLS:C0239803 "Red hair" is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002298 name: Absent hair alt_id: HP:0004548 xref: UMLS:C0574763 "absent hair" is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0002299 name: Brittle hair def: "Fragile, easily breakable hair, i.e., with reduced tensile strength." [DDD:cmoss] comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002300 name: Mutism xref: MeSH:D009155 "Mutism" xref: UMLS:C0026884 "Mutism" is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002301 name: Hemiplegia def: "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] xref: MeSH:D006429 "Hemiplegia" xref: UMLS:C0018991 "Hemiplegia" is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0002304 name: Akinesia def: "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [HPO:probinson] comment: Akinesia is a typical extrapyramidal abnormality. xref: UMLS:C0085623 "Akinesia" is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002305 name: Athetosis alt_id: HP:0007167 def: "Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators] synonym: "Athetoid movements" EXACT [] xref: MeSH:D001264 "Athetosis" xref: UMLS:C0004158 "Athetosis" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002307 name: Drooling def: "Habitual flow of saliva out of the mouth." [HPO:probinson, pmid:15202698] synonym: "Dribbling" EXACT [] synonym: "Sialorrhea" EXACT [HPO:sdoelken] xref: UMLS:C0013132 "Drooling" is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0003781 ! Excessive salivation [Term] id: HP:0002308 name: Arnold-Chiari malformation def: "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] synonym: "Arnola-Chiari malformation" EXACT [] synonym: "Chiari malformation" EXACT [] xref: MeSH:D001139 "Arnold-Chiari Malformation" xref: UMLS:C0555206 "ARNOLD-CHIARI MALFORMATION" is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002310 name: Orofacial dyskinesia synonym: "Orofacial dyskinesias" EXACT [] xref: UMLS:C0152115 "Orofacial Dyskinesia" is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0002311 name: Incoordination alt_id: HP:0002276 synonym: "Difficulties in coordination" EXACT [] synonym: "Incoordination of limb movements" EXACT [] synonym: "Limb incoordination" EXACT [] xref: UMLS:C0520966 "Incoordination" xref: UMLS:C1836396 "Limb incoordination" is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002312 name: Clumsiness def: "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [HPO:probinson] xref: UMLS:C0233844 "Clumsiness" is_a: HP:0002311 ! Incoordination [Term] id: HP:0002313 name: Spastic paraparesis alt_id: HP:0007191 xref: MeSH:D020336 "Paraparesis, Spastic" xref: UMLS:C0037771 "Paraparesis, Spastic" is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0002385 ! Paraparesis [Term] id: HP:0002314 name: Degeneration of the lateral corticospinal tracts alt_id: HP:0007254 def: "Deterioration of the tissues of the lateral corticospinal tracts." [HPO:probinson] synonym: "Degeneration of lateral corticospinal tracts" EXACT [] is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts property_value: HP:0040005 "Deterioration of the tissues of the `lateral corticospinal tracts` (FMA:72635)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002315 name: Headache alt_id: HP:0000266 alt_id: HP:0001354 def: "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, pmid:15304572] comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. synonym: "Headaches" EXACT [] xref: MeSH:D006261 "Headache" xref: UMLS:C0018681 "Headache" is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002317 name: Unsteady gait synonym: "Gait instability" EXACT [] xref: UMLS:C0231686 "Gait instability" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002318 name: Cervical myelopathy xref: UMLS:C0149645 "Cervical myelopathy" is_a: HP:0002196 ! Myelopathy [Term] id: HP:0002321 name: Vertigo def: "An abnormal sensation of spinning while the body is actually stationary." [HPO:probinson] synonym: "Dizziness" RELATED [] xref: MeSH:D014717 "Vertigo" xref: UMLS:C0042571 "Vertigo" is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0002322 name: Resting tremor def: "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:probinson] synonym: "Tremor at rest" EXACT [] xref: UMLS:C0234379 "Resting Tremor" is_a: HP:0001337 ! Tremor [Term] id: HP:0002323 name: Anencephaly xref: MeSH:D000757 "Anencephaly" xref: UMLS:C2021655 "anencephaly" is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0002324 name: Hydranencephaly def: "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [HPO:probinson] xref: MeSH:D006832 "Hydranencephaly" xref: UMLS:C0020225 "Hydranencephaly" is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002326 name: Transient ischemic attack synonym: "TIA" EXACT [] synonym: "Transient ischemic attacks" EXACT [] xref: MeSH:D002546 "Ischemic Attack, Transient" xref: UMLS:C0007787 "Attacks, Transient Ischemic" is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia [Term] id: HP:0002329 name: Drowsiness def: "Excessive daytime sleepiness." [HPO:probinson] xref: UMLS:C0013144 "Drowsiness" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0002330 name: Paroxysmal drowsiness def: "Attacks of disabling daytime drowsiness and low alertness." [HPO:probinson] is_a: HP:0002329 ! Drowsiness [Term] id: HP:0002331 name: Headache (with pheochromocytoma) is_a: HP:0002315 ! Headache [Term] id: HP:0002332 name: Lack of peer relationships is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0002333 name: Motor deterioration def: "Loss of previously present motor (i.e., movement) abilities." [HPO:probinson] xref: UMLS:C1866284 "Motor deterioration" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002334 name: Abnormality of the cerebellar vermis def: "An anomaly of the vermis of cerebellum." [HPO:probinson] comment: The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. is_a: HP:0002438 ! Cerebellar malformation property_value: HP:0040005 "An anomaly of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002335 name: Agenesis of cerebellar vermis alt_id: HP:0007125 def: "Congenital absence of the vermis of cerebellum." [HPO:probinson] synonym: "Cerebellar vermis aplasia" EXACT [] xref: UMLS:C1861732 "CEREBELLAR VERMIS APLASIA" is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis property_value: HP:0040005 "Congenital absence of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002339 name: Abnormality of the caudate nucleus def: "An abnormality of the caudate nucleus." [HPO:probinson] comment: The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. is_a: HP:0010994 ! Abnormality of the striatum property_value: HP:0040005 "An abnormality of the `caudate nucleus` (FMA:61833)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002340 name: Caudate atrophy xref: UMLS:C1858116 "Caudate atrophy" is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus [Term] id: HP:0002341 name: Cervical cord compression alt_id: HP:0007145 def: "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [HPO:probinson] synonym: "Cervical cord compression myelopathy" EXACT [] xref: UMLS:C0852866 "Cervical cord compression" xref: UMLS:C1867486 "Cervical cord compression myelopathy" is_a: HP:0002176 ! Spinal cord compression [Term] id: HP:0002342 name: Intellectual disability, moderate alt_id: HP:0007303 def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] synonym: "Mental retardation, moderate" EXACT [] synonym: "Moderate mental deficiency" EXACT [] synonym: "Moderate mental retardation" EXACT [] is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002343 name: Normal pressure hydrocephalus def: "A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture." [eMedicine:1135286, HPO:probinson] comment: Normal pressure hydrocephalus rarely occurs in patients younger than 60 years. synonym: "Normal-pressure hydrocephalus" EXACT [] xref: UMLS:C0020258 "Hydrocephalus, Normal Pressure" is_a: HP:0000238 ! Hydrocephalus property_value: HP:0040005 "A form of `hydrocephalus` (HP:0000238) characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture." xsd:string {xref="HPO:probinson", xref="eMedicine:1135286"} [Term] id: HP:0002344 name: Progressive neurologic deterioration synonym: "Neurologic deterioration" EXACT [] synonym: "Neurologic deterioration, progressive" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] xref: UMLS:C1854838 "Neurologic deterioration, progressive" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002345 name: Action tremor def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators] comment: Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors synonym: "Ataxic tremor" RELATED [] xref: UMLS:C0234376 "Action Tremor" is_a: HP:0001337 ! Tremor [Term] id: HP:0002346 name: Head tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting head movement." [HPO:probinson] xref: UMLS:C0239882 "Head tremor" is_a: HP:0030188 ! Tremor by anatomical site [Term] id: HP:0002349 name: Focal seizures without impairment of consciousness or awareness def: "A partial seizure in which consciousness is maintained." [HPO:probinson] synonym: "Simple partial seizures" EXACT [] xref: UMLS:C0234974 "Simple Partial Seizures" is_a: HP:0007359 ! Focal seizures property_value: HP:0040005 "A `partial seizure` (HP:0007359) in which consciousness is maintained." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002350 name: Cerebellar cyst synonym: "Cerebellar cysts" EXACT [HPO:skoehler] xref: UMLS:C1847762 "Cerebellar cysts" is_a: HP:0002438 ! Cerebellar malformation is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002352 name: Leukoencephalopathy alt_id: HP:0006838 alt_id: HP:0007073 def: "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [HPO:probinson] comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography. xref: MeSH:D056784 "Leukoencephalopathies" xref: UMLS:C0270612 "Leukoencephalopathy" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002353 name: EEG abnormality alt_id: HP:0001346 alt_id: HP:0002429 alt_id: HP:0006841 def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] synonym: "Abnormal EEG" EXACT [] synonym: "Abnormal electroencephalogram" EXACT [] synonym: "EEG abnormalities" EXACT [] synonym: "Electroencephalogram abnormal" EXACT [] synonym: "Electroencephalogram abnormalities" EXACT [] xref: UMLS:C0151611 "ABNORMAL ELECTROENCEPHALOGRAM" is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0002354 name: Memory impairment alt_id: HP:0000747 alt_id: HP:0002081 def: "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [HPO:probinson] comment: Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. synonym: "Forgetfulness" EXACT [] synonym: "Memory loss" EXACT [] xref: UMLS:C0002622 "Memory loss" xref: UMLS:C0233794 "Memory impairment" xref: UMLS:C0542476 "Forgetfulness" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0002355 name: Difficulty walking alt_id: HP:0007101 alt_id: HP:0009030 def: "Reduced ability to walk (ambulate)." [HPO:probinson] synonym: "Difficulty in walking" EXACT [] xref: UMLS:C0311394 "Difficulty walking" is_a: HP:0001288 ! Gait disturbance is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002356 name: Writer's cramp def: "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument." [HPO:probinson] xref: UMLS:C0338902 "Writer's cramp" is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0002357 name: Dysphasia xref: UMLS:C0973461 "Dysphasia" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002359 name: Frequent falls xref: UMLS:C0850703 "Frequent falls" is_a: HP:0002311 ! Incoordination is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002360 name: Sleep disturbance def: "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] synonym: "Sleep disturbances" EXACT [HPO:skoehler] synonym: "Sleep dysfunction" EXACT [] xref: UMLS:C0851578 "Sleep Disturbances" is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002361 name: Psychomotor deterioration def: "Loss of previously present mental and motor abilities." [HPO:probinson] synonym: "Psychomotor degeneration" EXACT [] xref: UMLS:C1836842 "Psychomotor degeneration" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002362 name: Shuffling gait xref: UMLS:C0231688 "Gait, Shuffling" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002363 name: Abnormality of brainstem morphology def: "An anomaly of the brainstem." [HPO:probinson] synonym: "Abnormality of the brainstem" EXACT [] is_a: HP:0012443 ! Abnormality of brain morphology property_value: HP:0040005 "An anomaly of the `brainstem` (FMA:79876)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002365 name: Hypoplasia of the brainstem def: "Underdevelopment of the brainstem." [HPO:probinson] comment: This finding can be demonstrated by magnetic resonance imaging. synonym: "Brainstem hypoplasia" EXACT [] synonym: "Hypoplastic brain stem" EXACT [] synonym: "Hypoplastic brainstem" EXACT [] synonym: "Small brainstem" EXACT [] xref: UMLS:C1837232 "Hypoplastic brainstem" is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem property_value: HP:0040005 "Underdevelopment of the `brainstem` (FMA:79876)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002366 name: Abnormal lower motor neuron morphology alt_id: HP:0007276 def: "Any structural anomaly of the lower motor neuron." [HPO:probinson] synonym: "Lower motor neuron disease" EXACT [] synonym: "Lower motor neuron manifestations" EXACT [] synonym: "Lower motor neuron signs" EXACT [] xref: UMLS:C1865412 "Lower motor neuron signs" is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0002450 ! Abnormal motor neuron morphology property_value: HP:0040005 "An abnormality of the `lower motor neuron` (FMA:84632)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002367 name: Visual hallucinations xref: UMLS:C0233763 "Hallucinations, Visual" is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002370 name: Poor coordination xref: UMLS:C0563243 "Poor coordination" is_a: HP:0002311 ! Incoordination [Term] id: HP:0002371 name: Loss of speech is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002372 name: Normal interictal EEG xref: UMLS:C1843146 "Normal interictal EEG" is_a: HP:0002353 ! EEG abnormality [Term] id: HP:0002373 name: Febrile seizures alt_id: HP:0002175 alt_id: HP:0007102 def: "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] synonym: "Febrile convulsions" EXACT [] synonym: "Seizures, febrile, in early childhood" EXACT [] synonym: "Seizures, generalized, associated with fever" EXACT [] xref: MeSH:D003294 "Seizures, Febrile" xref: UMLS:C0595982 "Febrile convulsions" is_a: HP:0001250 ! Seizures [Term] id: HP:0002374 name: Diminished movement is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002375 name: Hypokinesia alt_id: HP:0002603 alt_id: HP:0006795 def: "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [HPO:probinson] synonym: "Decreased spontaneous movement" EXACT [] synonym: "Decreased spontaneous movements" EXACT [] xref: MeSH:D018476 "Hypokinesia" xref: UMLS:C0086439 "Hypokinesia" xref: UMLS:C1839631 "Decreased spontaneous movements" is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002376 name: Developmental regression alt_id: HP:0002471 alt_id: HP:0002489 alt_id: HP:0006797 alt_id: HP:0006828 alt_id: HP:0006854 alt_id: HP:0007037 alt_id: HP:0007242 alt_id: HP:0007247 def: "Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth] comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. synonym: "Loss of developmental milestones" EXACT [] synonym: "Mental deterioration in childhood" EXACT [] synonym: "Neurodevelopmental regression" EXACT [] synonym: "Psychomotor regression" EXACT [] synonym: "Psychomotor regression beginning in infancy" EXACT [] synonym: "Psychomotor regression in infants" EXACT [] synonym: "Psychomotor regression, progressive" EXACT [] xref: UMLS:C1836830 "Developmental regression" xref: UMLS:C1855019 "Psychomotor regression" is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0002377 name: Paraganglioma-related cranial nerve palsy def: "A cranial nerve palsy associated with a paraganglioma of the head or neck." [HPO:probinson] is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0002378 name: Hand tremor synonym: "Tremor of hand" EXACT [] synonym: "Tremor of hands" EXACT [] xref: UMLS:C0239842 "HAND TREMOR" is_a: HP:0030188 ! Tremor by anatomical site [Term] id: HP:0002380 name: Fasciculations alt_id: HP:0002468 alt_id: HP:0007092 def: "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG). synonym: "Fasciculation" EXACT [] synonym: "Muscle fasciculation" EXACT [] xref: MeSH:D005207 "Fasciculation" xref: UMLS:C0015644 "Fasciculation" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002381 name: Aphasia xref: MeSH:D001037 "Aphasia" xref: UMLS:C0003537 "Aphasia" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002383 name: Encephalitis xref: MeSH:D004660 "Encephalitis" xref: UMLS:C0014038 "Encephalitis" is_a: HP:0011450 ! CNS infection [Term] id: HP:0002384 name: Focal seizures with impairment of consciousness or awareness def: "A partial seizure characterized by impairment or loss of consciousness." [HPO:curators] synonym: "Complex focal seizures" EXACT [] synonym: "Complex partial seizures" EXACT [] synonym: "Dyscognitive seizures" EXACT [] xref: UMLS:C0149958 "Complex partial seizures" is_a: HP:0007359 ! Focal seizures is_a: HP:0011146 ! Dialeptic seizures property_value: HP:0040005 "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." xsd:string {xref="HPO:curators"} [Term] id: HP:0002385 name: Paraparesis def: "Weakness or partial paralysis in the lower limbs." [HPO:probinson] comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. xref: MeSH:D020335 "Paraparesis" xref: UMLS:C0221166 "Paraparesis" is_a: HP:0010551 ! Paraplegia/paraparesis [Term] id: HP:0002389 name: Cavum septum pellucidum alt_id: HP:0006884 alt_id: HP:0007091 alt_id: HP:0007336 def: "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators] synonym: "Large cavum septi pellucidi" EXACT [] synonym: "Persistent cavum septum pellucidum" EXACT [] synonym: "Widened cavum septum pellucidum" EXACT [] xref: UMLS:C0228158 "Cavum septum pellucidum" is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0002390 name: Spinal arteriovenous malformation xref: UMLS:C0348023 "Spinal arteriovenous malformation" is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002392 name: EEG with polyspike wave complexes def: "The presence of complexes of repetitive spikes and waves in EEG." [HPO:jalbers] synonym: "EEG: spike and multispike waves, 3-4 hz" EXACT [] is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0002395 name: Lower limb hyperreflexia alt_id: HP:0007245 alt_id: HP:0007288 synonym: "Brisk lower extremity reflexes" EXACT [] synonym: "Hyperreflexia in lower limbs" EXACT [] synonym: "Hyperreflexia in the lower limbs" EXACT [] synonym: "Increased deep tendon reflexes in the lower limbs" EXACT [] synonym: "Leg hyperreflexia" EXACT [] xref: UMLS:C1836696 "Brisk lower extremity reflexes" xref: UMLS:C1836900 "Lower limb hyperreflexia" is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0002396 name: Cogwheel rigidity xref: UMLS:C0151564 "Cog-wheel rigidity" is_a: HP:0002063 ! Rigidity [Term] id: HP:0002398 name: Degeneration of anterior horn cells alt_id: HP:0007136 alt_id: HP:0008312 synonym: "Anterior horn cell loss" EXACT [] synonym: "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord" EXACT [] synonym: "Degeneration of spinal cord anterior horn cells" EXACT [] synonym: "Loss of spinal cord anterior horn cells" EXACT [] synonym: "Progressive loss of anterior horn cells" EXACT [] synonym: "Spinal cord anterior horn cell degeneration" EXACT [] xref: UMLS:C1843505 "Spinal cord anterior horn cell degeneration" is_a: HP:0006802 ! Abnormal anterior horn cell morphology is_a: HP:0007373 ! Motor neuron atrophy [Term] id: HP:0002401 name: Stroke-like episodes synonym: "Strokelike episodes" EXACT [] xref: UMLS:C1857287 "Stroke-like episodes" is_a: HP:0001297 ! Stroke [Term] id: HP:0002403 name: Positive Romberg sign def: "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception." [HPO:probinson] xref: UMLS:C0240914 "Positive Romberg sign" is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0002404 name: Thickened superior cerebellar peduncle def: "Increased width of the superior cerebellar peduncle." [HPO:probinson] synonym: "Thick cerebellar peduncles" EXACT [] is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle property_value: HP:0040005 "Increased width of the `superior cerebellar peduncle` (FMA:72495)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002406 name: Limb dysmetria def: "A type of dysmetria involving the limbs." [HPO:probinson] xref: UMLS:C1854489 "Limb dysmetria" is_a: HP:0001310 ! Dysmetria property_value: HP:0040005 "A type of `dysmetria` (HP:0001310) involving the limbs." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002408 name: Cerebral arteriovenous malformation synonym: "Cerebral av malformations" EXACT [] xref: MeSH:D002538 "Intracranial Arteriovenous Malformations" xref: UMLS:C0917804 "cerebral AV malformation" is_a: HP:0100026 ! Arteriovenous malformation is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0002410 name: Aqueductal stenosis def: "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators] synonym: "Aqueduct of Sylvius stenosis" EXACT [] synonym: "Aqueduct stenosis" EXACT [] xref: UMLS:C0265216 "Aqueductal stenosis" is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002411 name: Myokymia def: "Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle." [HPO:probinson, MeSH:D020385] xref: MeSH:D020385 "Myokymia" xref: UMLS:C0684219 "Myokymia" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002414 name: Spina bifida def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [HPO:curators] xref: UMLS:C0080178 "Spinal Dysraphism" is_a: HP:0010301 ! Spinal dysraphism [Term] id: HP:0002415 name: Leukodystrophy def: "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes." [HPO:probinson] comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. xref: UMLS:C0023520 "Leucodystrophy NOS" is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0002416 name: Subependymal cysts xref: UMLS:C1833431 "Subependymal cysts" is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002418 name: Abnormality of midbrain morphology def: "An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." [HPO:probinson] synonym: "Abnormality of the mesencephalon" EXACT [] synonym: "Abnormality of the midbrain" EXACT [] is_a: HP:0012443 ! Abnormality of brain morphology property_value: HP:0040005 "An abnormality of the `midbrain` (FMA:61993), which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002419 name: Molar tooth sign on MRI def: "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth." [HPO:probinson, pmid:14657304] comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. synonym: "'molar tooth sign' on brain imaging'" EXACT [] synonym: "'molar tooth' sign on imaging" EXACT [] synonym: "Molar tooth sign" EXACT [] xref: UMLS:C1969141 "'Molar tooth sign'" is_a: HP:0002418 ! Abnormality of midbrain morphology [Term] id: HP:0002421 name: Poor head control def: "Difficulty to maintain correct position of the head while standing or sitting." [HPO:probinson] xref: UMLS:C1836038 "Poor head control" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002423 name: Long-tract signs comment: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. synonym: "Long tract signs" EXACT [] xref: UMLS:C1865903 "Long tract signs" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002425 name: Anarthria def: "A defect in the motor ability that enables speech." [HPO:curators] xref: UMLS:C0234517 "Anarthria" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002427 name: Motor aphasia def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [HPO:probinson] xref: MeSH:D001039 "Aphasia, Broca" xref: UMLS:C0003550 "Aphasia, Motor" is_a: HP:0002381 ! Aphasia [Term] id: HP:0002435 name: Meningocele def: "Protrusion of the meninges through a defect of the vertebral column." [HPO:sdoelken] xref: MeSH:D008588 "Meningocele" xref: UMLS:C0025299 "Meningocele" is_a: HP:0002414 ! Spina bifida is_a: HP:0010651 ! Abnormality of the meninges [Term] id: HP:0002436 name: Occipital meningocele xref: UMLS:C1848652 "Occipital meningocele" is_a: HP:0002435 ! Meningocele [Term] id: HP:0002438 name: Cerebellar malformation xref: UMLS:C1846143 "Cerebellar malformation" is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002439 name: Frontolimbic dementia xref: UMLS:C1836151 "Frontolimbic dementia" is_a: HP:0000726 ! Dementia [Term] id: HP:0002442 name: Dyscalculia def: "A specific learning disability involving mathematics and arithmetic." [DDD:probinson] xref: MeSH:D060705 "Dyscalculia" xref: UMLS:C1411876 "Dyscalculia" is_a: HP:0001328 ! Specific learning disability [Term] id: HP:0002444 name: Hypothalamic hamartoma def: "The presence of a hamartoma of the hypothalamus." [HPO:curators] comment: Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency. xref: UMLS:C0342418 "Hypothalamic Hamartoma" is_a: HP:0009731 ! Cerebral hamartomata is_a: HP:0012286 ! Abnormal hypothalamus morphology property_value: HP:0040005 "The presence of a `hamartoma` of the `hypothalamus` (FMA:62008)." xsd:string {xref="HPO:curators"} [Term] id: HP:0002445 name: Tetraplegia alt_id: HP:0010552 def: "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [HPO:probinson] synonym: "Quadriplegia" EXACT [] xref: MeSH:D011782 "Quadriplegia" xref: UMLS:C0034372 "Quadriplegia" is_a: HP:0030182 ! Tetraplegia/tetraparesis [Term] id: HP:0002446 name: Astrocytosis def: "Proliferation of astrocytes in the area of a lesion of the central nervous system." [HPO:probinson] xref: UMLS:C0751171 "Astrocytosis" is_a: HP:0100705 ! Abnormality of the glial cells property_value: HP:0040005 "Proliferation of `astrocytes` (CL:0000127) in the area of a lesion of the central nervous system." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002448 name: Progressive encephalopathy is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002450 name: Abnormal motor neuron morphology def: "Any structural anomal that affects the motor neuron." [] is_a: HP:0012757 ! Abnormal neuron morphology [Term] id: HP:0002451 name: Limb dystonia def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [HPO:probinson] xref: UMLS:C0751093 "Dystonia, Limb" is_a: HP:0001332 ! Dystonia [Term] id: HP:0002453 name: Abnormality of the globus pallidus alt_id: HP:0007040 def: "An abnormality of the globus pallidus." [HPO:probinson] comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: HP:0040005 "An abnormality of the `globus pallidus` (FMA:61835)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002454 name: Eye of the tiger anomaly of globus pallidus def: "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance." [HPO:probinson, pmid:11110959] comment: This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus. is_a: HP:0002453 ! Abnormality of the globus pallidus property_value: HP:0040005 "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the `globus pallidus` (FMA:61835) that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance." xsd:string {xref="HPO:probinson", xref="pmid:11110959"} [Term] id: HP:0002457 name: Abnormal head movements xref: UMLS:C0476217 "Abnormal head movements" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002459 name: Dysautonomia alt_id: HP:0002387 alt_id: HP:0007310 def: "Dysfunction of the autonomic nervous system." [HPO:probinson] comment: Dysautonomia is a general term that refers to any dysfunction of the autonomic nervous system. synonym: "Autonomic dysfunction" EXACT [] xref: UMLS:C0013363 "Dysautonomia" is_a: HP:0012332 ! Abnormal autonomic nervous system physiology property_value: HP:0040005 "`Dysfunction` (PATO:0001641) of the `autonomic nervous system` (FMA:9905)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002460 name: Distal muscle weakness alt_id: HP:0002598 alt_id: HP:0002935 alt_id: HP:0003497 alt_id: HP:0006940 alt_id: HP:0009008 def: "Reduced strength of the musculature of the distal extremities." [HPO:probinson] comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. synonym: "Distal limb muscle weakness" EXACT [] synonym: "DISTAL LIMB MUSCLE WEAKNESS DUE TO PERIPHERAL NEUROPATHY" RELATED [HPO:skoehler] synonym: "Distal limb weakness" EXACT [] synonym: "Distal muscular weakness" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] synonym: "Weakness of distal muscles" EXACT [] xref: UMLS:C0427065 "Distal muscle weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002461 name: Dense calcifications in the cerebellar dentate nucleus is_a: HP:0007352 ! Cerebellar calcifications is_a: HP:0100321 ! Abnormality of the dentate nucleus [Term] id: HP:0002463 name: Language impairment xref: UMLS:C0023015 "Language Disorder" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002464 name: Spastic dysarthria def: "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [HPO:probinson] xref: UMLS:C0454596 "Dysarthria, Spastic" is_a: HP:0001257 ! Spasticity is_a: HP:0001260 ! Dysarthria [Term] id: HP:0002465 name: Poor speech xref: UMLS:C1848207 "Poor speech" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002470 name: Nonprogressive cerebellar ataxia is_a: HP:0001251 ! Ataxia [Term] id: HP:0002472 name: Small cerebral cortex alt_id: HP:0006791 alt_id: HP:0007151 def: "Reduced size of the cerebral cortex." [HPO:probinson] synonym: "Decreased volume of cerebral cortex" EXACT [] xref: UMLS:C1837503 "Small cerebral cortex" is_a: HP:0002538 ! Abnormality of the cerebral cortex property_value: HP:0040005 "Reduced size of the `cerebral cortex` (FMA:61830)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002474 name: Expressive language delay alt_id: HP:0007192 def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson] synonym: "Deficit in expressive language" EXACT [] xref: UMLS:C0454641 "Expressive language delay" is_a: HP:0000750 ! Delayed speech and language development [Term] id: HP:0002475 name: Myelomeningocele def: "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." [HPO:probinson] comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. synonym: "Meningomyelocele" EXACT [] synonym: "Spina bifida cystica" EXACT [HPO:sdoelken] xref: MeSH:D008591 "Meningomyelocele" xref: UMLS:C0025312 "Myelomeningocele" is_a: HP:0002435 ! Meningocele [Term] id: HP:0002476 name: Primitive reflexes (palmomental, snout, glabellar) synonym: "Primitive reflexes" EXACT [] xref: UMLS:C0422895 "Primitive reflexes" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002478 name: Progressive spastic quadriplegia synonym: "Progressive spastic quadriparesis" EXACT [] xref: UMLS:C1859736 "Progressive spastic quadriplegia" is_a: HP:0002191 ! Progressive spasticity [Term] id: HP:0002480 name: Hepatic encephalopathy def: "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes." [HPO:probinson] xref: MeSH:D006501 "Hepatic Encephalopathy" xref: UMLS:C0019151 "Hepatic Encephalopathy" is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002483 name: Bulbar signs xref: UMLS:C1856507 "Bulbar signs" is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002486 name: Myotonia alt_id: HP:0003632 alt_id: HP:0003754 alt_id: HP:0003792 def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." [HPO:probinson] comment: Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. synonym: "Delayed relaxation of muscle fibers after contraction" EXACT [] xref: MeSH:D009222 "Myotonia" xref: UMLS:C0027125 "Myotonia" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0002487 name: Hyperkinesis def: "Motor hyperactivity with excessive movement of muscles of the body as a whole." [HPO:probinson] synonym: "Hyperkinesia" EXACT [] xref: MeSH:D006948 "Hyperkinesis" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002488 name: Acute leukemia synonym: "Acute leukemias" EXACT [] xref: UMLS:C0085669 "Acute leukemias" is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0002490 name: Increased CSF lactate def: "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators] synonym: "Increased cerebrospinal fluid lactate" EXACT [] synonym: "Increased CSF lactic acid" EXACT [] xref: UMLS:C1167918 "Increased CSF lactate" is_a: HP:0030085 ! Abnormal CSF lactate level [Term] id: HP:0002491 name: Spasticity of facial muscles alt_id: HP:0000313 synonym: "Spasticity of the facial muscles" EXACT [] is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001257 ! Spasticity [Term] id: HP:0002492 name: Abnormality of the corticospinal tract alt_id: HP:0006912 def: "Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord." [HPO:probinson] synonym: "Involvement of the corticospinal pathways" RELATED [] is_a: HP:0002062 ! Morphological abnormality of the pyramidal tract [Term] id: HP:0002493 name: Upper motor neuron dysfunction def: "A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements.\nDysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs." [HPO:probinson] comment: A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). synonym: "Corticospinal tract dysfunction" EXACT [] synonym: "Pyramidal tract dysfunction" EXACT [] xref: UMLS:C1839042 "Corticospinal tract dysfunction" is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002494 name: Abnormal rapid eye movement (REM) sleep def: "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements." [HPO:curators] synonym: "Abnormal rapid eye movement sleep" EXACT [] xref: UMLS:C0392188 "Abnormal rapid eye movement sleep" is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0002495 name: Impaired vibratory sensation alt_id: HP:0006836 alt_id: HP:0007116 def: "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:probinson] comment: Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. synonym: "Decreased vibration sense" EXACT [] synonym: "Decreased vibratory sense" EXACT [] synonym: "Diminished vibratory sense" EXACT [] synonym: "Impaired vibratory sense" EXACT [] xref: UMLS:C1856692 "Impaired vibratory sense" is_a: HP:0003474 ! Sensory impairment [Term] id: HP:0002497 name: Spastic ataxia xref: UMLS:C1849156 "SPASTIC ATAXIA" is_a: HP:0001251 ! Ataxia [Term] id: HP:0002500 name: Abnormality of the cerebral white matter alt_id: HP:0200100 def: "An abnormality of the cerebral white matter." [HPO:probinson] comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. synonym: "Abnormality of subcortical white matter" EXACT [] synonym: "Cerebral white matter abnormalities" EXACT [] synonym: "Cortical white matter abnormalities seen on MRI" RELATED [HPO:skoehler] synonym: "Leukoaraiosis" EXACT [pmid:3800716] synonym: "White matter abnormalities" EXACT [] synonym: "White matter alterations" EXACT [] xref: UMLS:C1866186 "White matter abnormalities" is_a: HP:0010993 ! Abnormality of the cerebral subcortex property_value: HP:0040005 "An abnormality of the `cerebral white matter` (FMA:241998)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002501 name: Spasticity of pharyngeal muscles is_a: HP:0001257 ! Spasticity [Term] id: HP:0002503 name: Spinocerebellar tract degeneration synonym: "Degeneration of the spinocerebellar tracts" EXACT [] synonym: "Spinocerebellar degeneration" EXACT [] xref: UMLS:C1866751 "Spinocerebellar tract degeneration" is_a: HP:0003133 ! Abnormality of the spinocerebellar tracts [Term] id: HP:0002504 name: Calcification of the small brain vessels def: "Deposition of calcium salts within small blood vessels of the brain." [HPO:probinson] comment: This finding can be made upon neuropathologic examination. is_a: HP:0002514 ! Cerebral calcification is_a: HP:0004934 ! Vascular calcification is_a: HP:0009145 ! Abnormality of cerebral artery [Term] id: HP:0002505 name: Progressive inability to walk is_a: HP:0002540 ! Inability to walk [Term] id: HP:0002506 name: Diffuse cerebral atrophy alt_id: HP:0006954 def: "Diffuse unlocalised atrophy affecting the cerebrum." [HPO:sdoelken] synonym: "Cerebral atrophy, diffuse" EXACT [] is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002507 name: Semilobar holoprosencephaly def: "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [gc:hpe] xref: UMLS:C0751617 "Semi-lobar holoprosencephaly" is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0002508 name: Brainstem dysplasia alt_id: HP:0006991 def: "A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord." [HPO:probinson] synonym: "Brainstem hypoplasia/dysplasia" EXACT [] synonym: "Malformation of brainstem structures" EXACT [] is_a: HP:0002363 ! Abnormality of brainstem morphology [Term] id: HP:0002509 name: Limb hypertonia xref: UMLS:C1838391 "Limb hypertonia" is_a: HP:0001276 ! Hypertonia is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0002510 name: Spastic tetraplegia alt_id: HP:0001280 def: "Spastic paralysis affecting all four limbs." [HPO:probinson] synonym: "Spastic quadriplegia" EXACT [] xref: UMLS:C0426970 "Spastic Tetraplegia" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002511 name: Alzheimer disease alt_id: HP:0006878 alt_id: HP:0007213 def: "A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads." [HPO:probinson] comment: Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features. synonym: "Late-onset form of familial Alzheimer disease" EXACT [] xref: MeSH:D000544 "Alzheimer Disease" xref: UMLS:C0002395 "Alzheimer's Disease" is_a: HP:0002011 ! Morphological abnormality of the central nervous system [Term] id: HP:0002512 name: Brain stem compression xref: UMLS:C0270680 "Brain stem compression" is_a: HP:0002363 ! Abnormality of brainstem morphology [Term] id: HP:0002514 name: Cerebral calcification alt_id: HP:0002502 alt_id: HP:0005806 alt_id: HP:0006848 def: "The presence of calcium deposition within brain structures." [HPO:probinson] comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. synonym: "Brain calcification" EXACT [] synonym: "Intracerebral calcifications" EXACT [] synonym: "Intracranial calcification" EXACT [] synonym: "Intracranial calcifications" EXACT [] xref: UMLS:C0270685 "Cerebral calcification" is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0010766 ! Ectopic calcification property_value: HP:0040005 "The presence of `calcium deposition` (MPATH:36) within brain structures." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002515 name: Waddling gait synonym: "'Waddling' gait" EXACT [] xref: UMLS:C0231712 "'Waddling' gait" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002516 name: Increased intracranial pressure def: "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] comment: Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain. synonym: "Intracranial hypertension" EXACT [] synonym: "Intracranial pressure elevation" EXACT [] xref: MeSH:D019586 "Intracranial Hypertension" xref: UMLS:C2364324 "Increased Intracranial Pressure" is_a: HP:0012640 ! Abnormality of intracranial pressure [Term] id: HP:0002518 name: Abnormality of the periventricular white matter synonym: "PERIVENTRICULAR WHITE MATTER ABNORMALITIES" RELATED [HPO:skoehler] is_a: HP:0002352 ! Leukoencephalopathy is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0002519 name: Hypnagogic hallucinations xref: UMLS:C0233773 "Hallucinations, Hypnagogic" is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002521 name: Hypsarrhythmia def: "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)." [HPO:curators] synonym: "Hypsarrhythmia by EEG" EXACT [] xref: UMLS:C0684276 "Hypsarrhythmia" is_a: HP:0011198 ! EEG with generalized epileptiform discharges [Term] id: HP:0002522 name: Areflexia of lower limbs def: "Inability to elicit tendon reflexes in the lower limbs." [HPO:probinson] synonym: "Absent lower limb tendon reflexes" EXACT [] synonym: "Areflexia in lower limbs" EXACT [] synonym: "Areflexia of the lower limbs" EXACT [] synonym: "Areflexia, lower limbs" EXACT [] xref: UMLS:C1856694 "Absent lower limb tendon reflexes" is_a: HP:0001284 ! Areflexia is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002524 name: Cataplexy alt_id: HP:0002428 alt_id: HP:0002525 def: "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." [HPO:probinson, pmid:21931493, pmid:22249574] comment: Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. xref: MeSH:D002385 "Cataplexy" xref: UMLS:C0007384 "Cataplexy" is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0002526 name: Deficit in nonword repetition def: "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory." [HPO:probinson] is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002527 name: Falls xref: UMLS:C0085639 "Falls" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002528 name: Granulovacuolar degeneration comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. xref: UMLS:C0333454 "Granulovacuolar degeneration" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002529 name: Neuronal loss in central nervous system alt_id: HP:0002400 comment: This finding can be demonstrated by neuropathology. synonym: "Neuronal loss" EXACT [] xref: UMLS:C1850496 "Neuronal loss" is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002530 name: Axial dystonia def: "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles." [HPO:probinson] xref: UMLS:C1836149 "Axial dystonia" is_a: HP:0001332 ! Dystonia [Term] id: HP:0002533 name: Abnormal posturing def: "Involuntary flexion or extension of the arms and legs." [HPO:probinson] xref: UMLS:C0231471 "Abnormal posturing" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002536 name: Abnormal cortical gyration alt_id: HP:0006900 def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] synonym: "Abnormal gyration" EXACT [] synonym: "Cerebral gyral anomalies" EXACT [] xref: UMLS:C1842900 "Abnormal cortical gyration" is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002538 name: Abnormality of the cerebral cortex def: "An abnormality of the cerebral cortex." [HPO:probinson] is_a: HP:0002060 ! Abnormality of the cerebrum property_value: HP:0040005 "An abnormality of the `cerebral cortex` (FMA:61830)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002539 name: Cortical dysplasia alt_id: HP:0007139 def: "The presence of developmental dysplasia of the cerebral cortex." [HPO:probinson] synonym: "Neocortical dysplasia" EXACT [] xref: UMLS:C0431380 "Cortical Dysplasia" is_a: HP:0002538 ! Abnormality of the cerebral cortex property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `cerebral cortex` (FMA:61830)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002540 name: Inability to walk def: "Incapability to ambulate." [HPO:probinson] synonym: "Non-ambulatory" EXACT [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002542 name: Olivopontocerebellar atrophy alt_id: HP:0005683 def: "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson] synonym: "Olivopontocerebellar degeneration" EXACT [] xref: MeSH:D009849 "Olivopontocerebellar Atrophies" xref: UMLS:C0028968 "Olivopontocerebellar Atrophy" is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002544 name: Retrocollis def: "A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." [HPO:probinson, pmid:17917462] comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back. xref: UMLS:C0040485 "Torticollis" is_a: HP:0000473 ! Torticollis property_value: HP:0040005 "A form of `torticollis` (HP:0000473) in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." xsd:string {xref="HPO:probinson", xref="pmid:17917462"} [Term] id: HP:0002545 name: Patchy demyelination of subcortical white matter def: "Patchy loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0002546 name: Incomprehensible speech xref: UMLS:C1838027 "Incomprehensible speech" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002548 name: Parkinsonism with favorable response to dopaminergic medication synonym: "Favorable response to levodopa" RELATED [] is_a: HP:0001300 ! Parkinsonism [Term] id: HP:0002549 name: Deficit in phonologic short-term memory is_a: HP:0002354 ! Memory impairment [Term] id: HP:0002550 name: Absent facial hair def: "Absence of facial hair." [HPO:probinson] xref: UMLS:C1848192 "Absent facial hair" is_a: HP:0002298 ! Absent hair property_value: HP:0040005 "Absence of `facial hair`(FMA:54360)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002552 name: Trichodysplasia alt_id: HP:0004515 def: "Developmental dysplasia of the hair." [HPO:probinson] synonym: "Generalized trichodysplasia" RELATED [] is_a: HP:0001595 ! Abnormality of the hair property_value: HP:0040005 "`Developmental dysplasia` (MPATH:64) of the `hair` (FMA:53667)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002553 name: Highly arched eyebrow alt_id: HP:0001584 alt_id: HP:0004533 alt_id: HP:0007681 alt_id: HP:0007804 alt_id: HP:0008505 def: "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [pmid:19125427] comment: Most eyebrows have some arch with downturning medially and laterally. subset: hposlim_core synonym: "Arched eyebrows" EXACT [] synonym: "Bowed and upward slanting eyebrows" RELATED [] synonym: "Broad, arched eyebrows" EXACT [] synonym: "HIGH ARCHED EYEBROWS" RELATED [HPO:skoehler] synonym: "High, rounded eyebrows" EXACT [] synonym: "High-arched eyebrows" EXACT [] synonym: "Thick, flared eyebrows" EXACT [] is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002555 name: Absent pubic hair alt_id: HP:0004537 alt_id: HP:0004556 def: "Absence of pubic hair." [HPO:probinson] subset: hposlim_core xref: UMLS:C1859391 "Absent pubic hair" is_a: HP:0002298 ! Absent hair is_a: HP:0100133 ! Abnormality of the pubic hair property_value: HP:0040005 "Absence of `pubic hair`(FMA:54319)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002557 name: Hypoplastic nipples alt_id: HP:0002560 alt_id: HP:0003188 alt_id: HP:0006652 def: "Underdevelopment of the nipple." [HPO:probinson] synonym: "Nipple hypoplasia" EXACT [] synonym: "Small nipples" EXACT [] xref: UMLS:C1853630 "Hypoplastic nipples" is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples property_value: HP:0040005 "Underdevelopment of the `nipple` (FMA:67771)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002558 name: Supernumerary nipple alt_id: HP:0002559 def: "Presence of more than two nipples." [HPO:probinson] subset: hposlim_core synonym: "accessory mamilla" EXACT [] synonym: "accessory mamillas" RELATED [] synonym: "Accessory nipple" EXACT [] synonym: "Accessory nipples" RELATED [] synonym: "Supernumerary nipples" RELATED [] xref: SNOMEDCT:50956007 "Accessory nipple" xref: UMLS:C0266011 "Accessory nipple" is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0002561 name: Absent nipple def: "Congenital failure to develop, and absence of, the nipple." [] comment: This finding can be unilateral or bilateral. synonym: "Absent nipples" EXACT [] synonym: "Athelia" EXACT [] xref: UMLS:C0425795 "Absent nipples" is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002562 name: Low-set nipples def: "Placement of the nipples at a lower than normal location." [HPO:probinson] subset: hposlim_core xref: UMLS:C1836933 "Low-set nipples" is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0002563 name: Constrictive pericarditis def: "Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium." [HPO:probinson] xref: MeSH:D010494 "Pericarditis, Constrictive" xref: UMLS:C0031048 "Pericarditis, Constrictive" is_a: HP:0001701 ! Pericarditis [Term] id: HP:0002564 name: Malformation of the heart and great vessels alt_id: HP:0001632 alt_id: HP:0002565 def: "Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava)." [HPO:probinson] comment: This category is meant to comprise congenital (developmental) structural heart defects. synonym: "Cardiovascular malformations" EXACT [] synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] synonym: "Congenital heart disease" EXACT [] xref: UMLS:C0018798 "Congenital Heart Defects" is_a: HP:0001627 ! Abnormality of cardiac morphology [Term] id: HP:0002566 name: Intestinal malrotation alt_id: HP:0002026 def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:probinson, pmid:12438031] subset: hposlim_core synonym: "GUT MALROTATION" RELATED [HPO:skoehler] synonym: "Malrotation" EXACT [] xref: MEDRA:10064024 "Intestinal malrotation" xref: UMLS:C0221210 "Intestinal malrotation" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002570 name: Steatorrhea def: "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats." [HPO:probinson] xref: MeSH:D045602 "Steatorrhea" xref: UMLS:C0038238 "STEATORRHOEA" is_a: HP:0002630 ! Fat malabsorption [Term] id: HP:0002571 name: Achalasia def: "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus." [HPO:probinson] comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. subset: hposlim_core synonym: "Achalasia of the esophagus" EXACT [] xref: MEDRA:10030136 "Oesophageal achalasia" xref: SNOMEDCT:48531003 "Achalasia" xref: UMLS:C0014848 "Achalasia" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002579 ! Gastrointestinal dysmotility [Term] id: HP:0002572 name: Episodic vomiting def: "Paroxysmal, recurrent episodes of vomiting." [HPO:curators] synonym: "FREQUENT VOMITING" RELATED [HPO:skoehler] xref: UMLS:C1838993 "Vomiting, episodic" is_a: HP:0002013 ! Vomiting [Term] id: HP:0002573 name: Hematochezia alt_id: HP:0002255 alt_id: HP:0002609 def: "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus." [DDD:hfirth] comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. synonym: "Bloody diarrhea" EXACT [] synonym: "Rectal bleeding" EXACT [] synonym: "RECURRENT RECTAL BLEEDING" RELATED [HPO:skoehler] xref: UMLS:C0018932 "Haematochezia" xref: UMLS:C0151594 "Bloody diarrhea" xref: UMLS:C0267596 "Rectal bleeding" is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002574 name: Episodic abdominal pain def: "An intermittent form of abdominal pain." [HPO:probinson] synonym: "Intermittent abdominal pain" RELATED [] is_a: HP:0002027 ! Abdominal pain property_value: HP:0040005 "An `intermittent` (PATO:0000690) form of `abdominal pain` (HP:0002027)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002575 name: Tracheoesophageal fistula def: "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] subset: hposlim_core xref: MEDRA:10044310 "Tracheo-oesophageal fistula" xref: MeSH:D014138 "Tracheoesophageal Fistula" xref: SNOMEDCT:95435007 "Tracheoesophageal fistula" xref: UMLS:C0040588 "Tracheoesophageal Fistula" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002576 name: Intussusception def: "An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine." [HPO:probinson] comment: Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel. subset: hposlim_core xref: MEDRA:10022863 "Intussusception" xref: MeSH:D007443 "Intussusception" xref: SNOMEDCT:35327006 "Intussusception" xref: UMLS:C0021933 "Intussusception" is_a: HP:0002242 ! Abnormality of the intestine property_value: HP:0040005 "An abnormality of the `intestine` (FMA:7199) in which part of the intestine invaginates (telescopes) into another part of the intestine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002577 name: Abnormality of the stomach def: "An abnormality of the stomach." [HPO:probinson] comment: The stomach the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract property_value: HP:0040005 "An abnormality of the `stomach` (FMA:7148)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002578 name: Gastroparesis def: "Decreased strength of the Muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction." [HPO:probinson] subset: hposlim_core xref: MeSH:D018589 "Gastroparesis" xref: UMLS:C0152020 "Gastroparesis" is_a: HP:0002577 ! Abnormality of the stomach property_value: HP:0040005 "`Decreased strength` (PATO:0001779) of the `Muscle layer of stomach` (FMA:14909), which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002579 name: Gastrointestinal dysmotility def: "Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson] subset: hposlim_core xref: UMLS:C1836923 "Gastrointestinal dysmotility" is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0002580 name: Volvulus def: "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue." [HPO:probinson] comment: Volvulus can lead to intestinal obstruction and ischemia. xref: UMLS:C0042961 "Volvulus" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002582 name: Chronic atrophic gastritis def: "A form of chronic gastritis associated with atrophic gastric mucous membrane." [HPO:probinson] comment: Over time, chronic gastritis leads to atrophy of the gastric mucosa. Thus, chronic atrophc gastritis can represent an end stage of chronic gastritis. xref: UMLS:C0017154 "Chronic" is_a: HP:0005231 ! Chronic gastritis property_value: HP:0040005 "A form of `chronic gastritis` (HP:0005231) associated with `atrophic` (PATO:0001623) `gastric mucous membrane` (FMA:14907)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002583 name: Colitis def: "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases." [HPO:sdoelken] xref: MeSH:D003092 "Colitis" is_a: HP:0002037 ! Inflammation of the large intestine is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002584 name: Intestinal bleeding def: "Bleeding from the intestines." [DDD:akelly] synonym: "Intestinal hemorrhage" EXACT [] xref: UMLS:C0267373 "Intestinal bleeding" is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002585 name: Abnormality of the peritoneum def: "An abnormality of the peritoneum." [HPO:probinson] comment: The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. is_a: HP:0002012 ! Abnormality of the abdominal organs property_value: HP:0040005 "An abnormality of the `peritoneum` (FMA:9584)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002586 name: Peritonitis alt_id: HP:0100591 def: "Inflammation of the peritoneum." [HPO:probinson] synonym: "Inflammation of the peritoneum" EXACT [] xref: MeSH:D010538 "Peritonitis" xref: UMLS:C0031154 "Peritonitis" is_a: HP:0002585 ! Abnormality of the peritoneum property_value: HP:0040005 "`Inflammation` (MPATH:212) of the `peritoneum` (FMA:9584)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002587 name: Projectile vomiting def: "Vomiting that ejects the gastric contents with great force." [HPO:probinson] xref: UMLS:C0221151 "Projectile vomiting" is_a: HP:0002013 ! Vomiting [Term] id: HP:0002588 name: Duodenal ulcer def: "An erosion of the mucous membrane of in a portion of the duodenum." [HPO:probinson] subset: hposlim_core xref: MEDRA:10013836 "Duodenal ulcer" xref: MeSH:D004381 "Duodenal Ulcer" xref: UMLS:C0013295 "Duodenal Ulcer" is_a: HP:0002246 ! Abnormality of the duodenum [Term] id: HP:0002589 name: Gastrointestinal atresia is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract [Term] id: HP:0002590 name: Paralytic ileus xref: UMLS:C0030446 "Paralytic Ileus" is_a: HP:0002595 ! Ileus [Term] id: HP:0002591 name: Polyphagia alt_id: HP:0000724 alt_id: HP:0002042 def: "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat." [HPO:probinson] synonym: "Hyperphagia" EXACT [] synonym: "Increased appetite" RELATED [] synonym: "Voracious appetite" EXACT [] xref: MeSH:D006963 "Hyperphagia" xref: UMLS:C0020505 "POLYPHAGIA" is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0002592 name: Gastric ulcer def: "An ulcer, that is, an erosion of an area of the gastric mucous membrane." [HPO:probinson] comment: The presence of a mucosal erosion equal to or greater than 0.5 cm. subset: hposlim_core synonym: "Stomach ulcer" EXACT [] xref: MEDRA:10017822 "Gastric ulcer" xref: MeSH:D013276 "Stomach Ulcer" xref: SNOMEDCT:397825006 "Gastric ulcer" xref: UMLS:C0038358 "Gastric ulcer" is_a: HP:0004295 ! Abnormality of the gastric mucosa is_a: HP:0004398 ! Peptic ulcer property_value: HP:0040005 "An `ulcer` (MPATH:579), that is, an erosion of an area of the `gastric mucous membrane` (FMA:14907)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002593 name: Intestinal lymphangiectasia def: "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines." [HPO:probinson] xref: UMLS:C0024215 "Intestinal lymphangiectasia" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002594 name: Pancreatic hypoplasia alt_id: HP:0005221 def: "Hypoplasia of the pancreas." [HPO:probinson] comment: Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size. synonym: "Hypoplastic pancreas" EXACT [] xref: UMLS:C1850099 "Pancreatic hypoplasia" is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas property_value: HP:0040005 "`Hypoplasia` (MPATH:133) of the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002595 name: Ileus def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken] subset: hposlim_core xref: MEDRA:10021328 "Ileus" xref: MeSH:D045823 "Ileus" xref: SNOMEDCT:81060008 "Intestinal obstruction" xref: UMLS:C1258215 "Ileus" is_a: HP:0002579 ! Gastrointestinal dysmotility is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0002597 name: Abnormality of the vasculature def: "An abnormality of the vasculature." [HPO:probinson] synonym: "Vascular abnormalities" EXACT [] xref: UMLS:C0241657 "Vascular abnormalities" is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: HP:0040005 "An abnormality of the `vasculature` (FMA:69050)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002599 name: Head titubation def: "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction." [HPO:probinson] comment: Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see pmid:4821687) was: As the disease progresses, some jerky irregularity develops in the movement\nof the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea. xref: UMLS:C1608410 "Head titubation" is_a: HP:0002346 ! Head tremor is_a: HP:0002457 ! Abnormal head movements is_a: HP:0030187 ! Titubation [Term] id: HP:0002600 name: Hyporeflexia of lower limbs alt_id: HP:0006861 def: "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson] comment: Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. synonym: "Hyporeflexia in lower limbs" EXACT [] synonym: "Hyporeflexia of the lower limbs" EXACT [] synonym: "Hyporeflexia, lower limbs" EXACT [] synonym: "Hyporeflexia/areflexia in lower limbs" EXACT [] is_a: HP:0001265 ! Hyporeflexia is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002601 name: Paresis of extensor muscles of the big toe is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0002604 name: Gastrointestinal telangiectasia def: "Telangiectasia affecting thegastrointestinal tract." [HPO:probinson] comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100579 ! Mucosal telangiectasiae property_value: HP:0040005 "`Telangiectasia` (MPATH:476) affecting the`gastrointestinal tract` (FMA:71132)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002605 name: Hepatic necrosis def: "The presence of necrosis affecting the liver." [HPO:probinson] xref: UMLS:C0151798 "Hepatic necrosis" is_a: HP:0001392 ! Abnormality of the liver property_value: HP:0040005 "The presence of `necrosis` (MPATH:4) affecting the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T11:32:00Z [Term] id: HP:0002607 name: Bowel incontinence alt_id: HP:0007147 def: "Involuntary fecal soiling in adults and children who have usually already been toilet trained." [HPO:sdoelken] synonym: "Anal incontinence" EXACT [] synonym: "Encopresis" EXACT [] synonym: "Fecal incontinence" EXACT [] xref: MeSH:D004688 "Encopresis" xref: UMLS:C0015732 "Bowel incontinence" is_a: HP:0012700 ! Abnormal large intestine physiology [Term] id: HP:0002608 name: Celiac disease def: "Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases." [HPO:probinson, pmid:23681421] synonym: "Celiac sprue" EXACT [] xref: MeSH:D002446 "Celiac Disease" is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002611 name: Cholestatic liver disease xref: UMLS:C0860204 "Cholestatic liver disease" is_a: HP:0001396 ! Cholestasis [Term] id: HP:0002612 name: Congenital hepatic fibrosis def: "The presence of fibrosis of that part of the liver with congenital onset." [HPO:probinson] comment: Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis). xref: UMLS:C0009714 "Congenital hepatic fibrosis" is_a: HP:0001395 ! Hepatic fibrosis property_value: HP:0040005 "The presence of `fibrosis` (MPATH:181) of that part of the `liver` (FMA:7197) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002613 name: Biliary cirrhosis def: "Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease." [HPO:probinson] synonym: "Primary biliary cirrhosis" RELATED [] xref: MeSH:D008105 "Liver Cirrhosis, Biliary" xref: UMLS:C0023892 "Biliary cirrhosis" is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: HP:0040005 "Progressive destruction of the small-to-medium bile ducts of the `intrahepatic biliary tree` (FMA:68016), which leads to progressive cholestasis and often end-stage liver disease." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002614 name: Hepatic periportal necrosis def: "A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein." [HPO:probinson] is_a: HP:0002605 ! Hepatic necrosis property_value: HP:0040005 "A type of `hepatic necrosis` (HP:0002605) that is concentrated around the necrosis of hepatocytes localized around the `intrahepatic branch of portal vein` (FMA:15417)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002615 name: Hypotension alt_id: HP:0005127 alt_id: HP:0006701 def: "Low Blood Pressure, vascular hypotension." [HPO:probinson] synonym: "Arterial hypotension" EXACT [] synonym: "Low blood pressure" EXACT [] xref: MeSH:D007022 "Hypotension" xref: UMLS:C0020649 "Hypotension" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0002616 name: Aortic root dilatation alt_id: HP:0004750 alt_id: HP:0005125 synonym: "increased aortic root diameter" EXACT [] xref: UMLS:C0238669 "Aortic root dilatation" is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0002617 name: Aneurysm def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [HPO:probinson] synonym: "Aneurysmal disease" RELATED [] synonym: "ANEURYSMS" EXACT [HPO:skoehler] xref: MeSH:D000783 "Aneurysm" xref: UMLS:C0002940 "Aneurysm" is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002619 name: Varicose veins def: "Enlarged and tortuous veins." [HPO:probinson] xref: MeSH:D014648 "Varicose Veins" xref: UMLS:C0042345 "VEIN VARICOSE" is_a: HP:0005293 ! Venous insufficiency [Term] id: HP:0002621 name: Atherosclerosis def: "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:probinson] comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. xref: MeSH:D050197 "Atherosclerosis" xref: UMLS:C0004153 "Atherosclerosis" is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0002622 name: Dissecting aortic aneurysm xref: UMLS:C0012736 "ANEURYSM, AORTA, DISSECTING" is_a: HP:0002647 ! Aortic dissection is_a: HP:0004942 ! Aortic aneurysm [Term] id: HP:0002623 name: Overriding aorta def: "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators] synonym: "Dextroposition of aorta" EXACT [] xref: UMLS:C0265886 "Overriding aorta" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0002624 name: Venous abnormality def: "An anomaly of vein." [HPO:probinson] xref: UMLS:C0241665 "VENOUS ABNORMALITY" is_a: HP:0002597 ! Abnormality of the vasculature property_value: HP:0040005 "An anomaly of `vein` (FMA:50723)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002625 name: Deep venous thrombosis def: "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected." [HPO:probinson] synonym: "Deep vein thrombosis" EXACT [] synonym: "Multiple deep venous thrombosis" EXACT [] xref: UMLS:C0340708 "Deep vein thrombosis" is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0002626 name: Venous varicosities of celiac and mesenteric vessels def: "Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein." [HPO:probinson] is_a: HP:0002619 ! Varicose veins property_value: HP:0040005 "Elongated and tortuous mesenteric veins, which comprise the `inferior mesenteric vein` (FMA:15391) and the `superior mesenteric vein` (FMA:14332)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002627 name: Right aortic arch with mirror image branching def: "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery." [DDD:dbrown, HPO:sdoelken] xref: UMLS:C0035615 "Right aortic arch" is_a: HP:0012020 ! Right aortic arch [Term] id: HP:0002629 name: Gastrointestinal arteriovenous malformation xref: UMLS:C0744321 "Gastrointestinal arteriovenous malformation" is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002630 name: Fat malabsorption def: "Abnormality of the absorption of fat from the gastrointestinal tract." [HPO:probinson] xref: UMLS:C0554103 "Fat malabsorption" is_a: HP:0002024 ! Malabsorption is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002631 name: Ascending aortic aneurysm def: "A bulging, weakened area in the wall of the ascending thoracic aorta." [HPO:probinson] is_a: HP:0005111 ! Dilatation of the ascending aorta is_a: HP:0012727 ! Thoracic aortic aneurysm [Term] id: HP:0002632 name: Low-to-normal blood pressure xref: UMLS:C1866500 "Low-to-normal blood pressure" is_a: HP:0002615 ! Hypotension [Term] id: HP:0002633 name: Vasculitis def: "Inflammation of blood vessel." [HPO:probinson] xref: MeSH:D014657 "Vasculitis" xref: UMLS:C0042384 "Vasculitis" is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002634 name: Arteriosclerosis def: "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity." [HPO:probinson] comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. xref: MeSH:D001161 "Arteriosclerosis" xref: UMLS:C0003850 "Arteriosclerosis" is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002635 name: Atheromatosis xref: UMLS:C0004153 "Atherosclerosis" is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0002636 name: Aneurysm of an abdominal artery def: "Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta." [HPO:probinson] is_a: HP:0002617 ! Aneurysm is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0002637 name: Cerebral ischemia xref: UMLS:C0007786 "Cerebral Ischemia" is_a: HP:0009145 ! Abnormality of cerebral artery is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0002638 name: Superficial thrombophlebitis def: "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson] xref: UMLS:C1510431 "Superficial thrombophlebitis" is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002639 name: Budd-Chiari syndrome def: "Budd–Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium,1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience." [HPO:probinson, pmid:16265183] xref: MeSH:D006502 "Budd-Chiari Syndrome" xref: UMLS:C0856761 "Budd-Chiari Syndrome" is_a: HP:0002624 ! Venous abnormality [Term] id: HP:0002640 name: Hypertension associated with pheochromocytoma def: "A type of hypertension associated with pheochromocytoma." [HPO:probinson] is_a: HP:0000822 ! Hypertension property_value: HP:0040005 "A type of `hypertension` (HP:0000822) associated with `pheochromocytoma` (HP:0002666)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002641 name: Peripheral thrombosis xref: UMLS:C1849749 "Peripheral thrombosis" is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0002642 name: Arteriovenous fistulas of celiac and mesenteric vessels is_a: HP:0002624 ! Venous abnormality is_a: HP:0004947 ! Arteriovenous fistula [Term] id: HP:0002643 name: Neonatal respiratory distress def: "Respiratory difficulty as newborn." [HPO:probinson] synonym: "Infantile respiratory distress" EXACT [] synonym: "Newborn respiratory distress" EXACT [] synonym: "Respiratory distress, neonatal" EXACT [] xref: UMLS:C0852283 "Neonatal respiratory distress" is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002644 name: Abnormality of pelvic girdle bone morphology def: "An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs." [HPO:probinson] synonym: "Abnormality of the pelvic girdle" RELATED [] is_a: HP:0011844 ! Abnormal appendicular skeleton morphology property_value: HP:0040005 "An abnormality of the `bony pelvic girdle` (FMA:61412), which is a ring of bones connecting the vertebral column to the femurs." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002645 name: Wormian bones def: "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium." [HPO:probinson] comment: Irregular, solated bones in the lambdoidal suture or at the fontanelles. subset: hposlim_core synonym: "Extra sutural bones" EXACT [] xref: UMLS:C0222716 "Wormian bones" is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0002647 name: Aortic dissection def: "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators] xref: UMLS:C0340643 "Aortic dissection" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0002648 name: Abnormality of calvarial morphology def: "The presence of an abnormal shape of thecalvaria." [DDD:awilkie, HPO:probinson] is_a: HP:0002683 ! Abnormality of the calvaria property_value: HP:0040005 "The presence of an `abnormal` (PATO:0000460) `shape` (PATO:0000052) of the`calvaria` (FMA:52800)." xsd:string {xref="DDD:awilkie", xref="HPO:probinson"} [Term] id: HP:0002650 name: Scoliosis alt_id: HP:0002770 alt_id: HP:0003303 alt_id: HP:0003317 alt_id: HP:0003415 def: "The presence of an abnormal lateral curvature of the spine." [HPO:probinson] subset: hposlim_core xref: MeSH:D012600 "Scoliosis" xref: SNOMEDCT:20944008 "Scoliosis" xref: SNOMEDCT:298382003 "Scoliosis deformity of spine" xref: UMLS:C0700208 "Scoliosis" is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002651 name: Spondyloepimetaphyseal dysplasia xref: UMLS:C1863733 "Spondyloepimetaphyseal dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002652 name: Skeletal dysplasia alt_id: HP:0005685 def: "A general term describing features characterized by abnormal development of bones and connective tissues." [HPO:probinson] comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of a congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. xref: UMLS:C0410528 "Skeletal dysplasia" is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0002653 name: Bone pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone." [] xref: UMLS:C1963077 "Bone pain" is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0002654 name: Multiple epiphyseal dysplasia xref: UMLS:C0026760 "Multiple Epiphyseal Dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002655 name: Spondyloepiphyseal dysplasia alt_id: HP:0002776 alt_id: HP:0005893 def: "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [HPO:probinson] synonym: "Spondyloepiphyseal dysplasia tarda" EXACT [] xref: UMLS:C0038015 "Spondyloepiphyseal Dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002656 name: Epiphyseal dysplasia xref: UMLS:C0392476 "Epiphyseal dysplasia" is_a: HP:0002652 ! Skeletal dysplasia is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0002657 name: Spondylometaphyseal dysplasia xref: UMLS:C0700635 "Spondylometaphyseal dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002659 name: Increased susceptibility to fractures alt_id: HP:0002662 alt_id: HP:0002798 alt_id: HP:0005710 alt_id: HP:0005783 alt_id: HP:0005931 def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] comment: This is a bundled term that will be made obsolete. synonym: "Abnormal susceptibility to fractures" EXACT [] synonym: "Bone fragility" EXACT [] synonym: "Increased bone fragility" EXACT [] synonym: "Increased tendency to fractures" EXACT [] xref: UMLS:C1390474 "Bone fragility" is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0002661 name: Painless fractures due to injury def: "An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators] is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002663 name: Delayed epiphyseal ossification alt_id: HP:0005862 synonym: "Delayed epiphyseal maturation" EXACT [] synonym: "Delayed opacification of the epiphyses" EXACT [] synonym: "Detailed epiphyseal ossification" EXACT [] synonym: "Epiphyseal ossification delay" EXACT [] xref: UMLS:C1833001 "Late ossifying epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0002664 name: Neoplasm alt_id: HP:0003008 alt_id: HP:0006741 def: "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour)." [HPO:probinson] comment: The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. synonym: "Cancer" RELATED [] synonym: "Neoplasia" EXACT [] synonym: "Oncological abnormality" EXACT [] synonym: "Oncology" EXACT [HPO:curators] xref: MeSH:D009369 "Neoplasms" xref: UMLS:C0027651 "Neoplasia" is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant `neoplasm` (MPATH:218) (tumour)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002665 name: Lymphoma def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:probinson] xref: MeSH:D008223 "Lymphoma" xref: UMLS:C0024299 "Lymphoma" is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002666 name: Pheochromocytoma def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:probinson] xref: MeSH:D010673 "Pheochromocytoma" xref: UMLS:C1706920 "pheochromocytoma" is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002667 name: Nephroblastoma (Wilms tumor) alt_id: HP:0000115 def: "The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children." [HPO:probinson] comment: Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever. synonym: "Nephroblastoma" EXACT [] synonym: "Wilm's tumor" EXACT [] synonym: "Wilms tumor" EXACT [] xref: MeSH:D009396 "Wilms Tumor" xref: UMLS:C0027708 "Nephroblastoma" is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0011794 ! Embryonal renal neoplasm property_value: HP:0040005 "The presence of a `nephroblastoma` (MPATH:261), which is a neoplasm of the `kidney` (FMA:7203) that primarily affects children." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002668 name: Paraganglioma alt_id: HP:0002670 alt_id: HP:0003004 def: "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:probinson] synonym: "Carotid body tumors" EXACT [] synonym: "Paragangliomas" EXACT [HPO:skoehler] xref: MeSH:D010235 "Paraganglioma" xref: UMLS:C0030421 "chemodectomas" is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002669 name: Osteosarcoma def: "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor." [HPO:probinson] synonym: "Osteogenic sarcoma" EXACT [] xref: MeSH:D012516 "Osteosarcoma" xref: UMLS:C0029463 "Sarcoma, Osteogenic" is_a: HP:0010622 ! Neoplasm of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002671 name: Basal cell carcinoma def: "The presence of a basal cell carcinoma of the skin." [HPO:sdoelken] comment: A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life. synonym: "Basal cell carcinomas" EXACT [] synonym: "Basal cell epithelioma" EXACT [] synonym: "Basal cell nevus" EXACT [] synonym: "Basalioma" EXACT [] xref: UMLS:C0007117 "Basal Cell Carcinomas" is_a: HP:0008069 ! Neoplasm of the skin property_value: HP:0040005 "The presence of a `basal cell carcinoma` (MPATH:234) of the `skin` (FMA:7163)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0002672 name: Gastrointestinal carcinoma xref: UMLS:C0151544 "Gastrointestinal carcinoma" is_a: HP:0006749 ! Malignant gastrointestinal tract tumors [Term] id: HP:0002673 name: Coxa valga def: "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:probinson] synonym: "COXA VALGA DEFORMITY" RELATED [HPO:skoehler] xref: MeSH:D060906 "Coxa valga" xref: UMLS:C0239137 "Coxa valga" is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0002676 name: Cloverleaf skull alt_id: HP:0004477 alt_id: HP:0005459 def: "Trilobar skull configuration when viewed from the front or behind." [pmid:19125436] comment: A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus. subset: hposlim_core synonym: "Kleeblattschaedel" EXACT [] xref: UMLS:C1860050 "Cloverleaf skull" is_a: HP:0002648 ! Abnormality of calvarial morphology property_value: HP:0040005 "`Trilobar` (PATO:0002241) skull configuration when viewed from the front or behind." xsd:string {xref="pmid:19125436"} [Term] id: HP:0002677 name: Small foramen magnum alt_id: HP:0005468 def: "An abnormal narrowing of the foramen magnum." [HPO:probinson] comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord. subset: hposlim_core synonym: "Foramen magnum stenosis" EXACT [] xref: UMLS:C1535953 "Foramen magnum stenosis" xref: UMLS:C1861217 "Small foramen magnum" is_a: HP:0002699 ! Abnormality of the foramen magnum property_value: HP:0040005 "An abnormal narrowing of the `foramen magnum` (FMA:75306)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002678 name: Skull asymmetry xref: UMLS:C0424690 "Skull asymmetry" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002679 name: Abnormality of the sella turcica def: "Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:probinson] subset: hposlim_core synonym: "Anomaly of the sella turcica" EXACT [] is_a: HP:0000929 ! Abnormality of the skull property_value: HP:0040005 "Abnormality of the `sella turcica` (FMA:54709), a saddle-shaped depression in the sphenoid bone at the base of the human skull." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002680 name: J-shaped sella turcica def: "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:pnrobinson] subset: hposlim_core synonym: "J-shaped sella" EXACT [] is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0002681 name: Deformed sella turcica xref: UMLS:C1846437 "Deformed sella turcica" is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002682 name: Broad skull def: "Increased width of the skull." [HPO:probinson] xref: UMLS:C0424693 "Broad skull" is_a: HP:0002648 ! Abnormality of calvarial morphology property_value: HP:0040005 "`Increased width` (PATO:0000600) of the skull." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002683 name: Abnormality of the calvaria def: "Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." [HPO:probinson] comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. is_a: HP:0000929 ! Abnormality of the skull property_value: HP:0040005 "Abnormality of the `calvaria` (FMA:52800), which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002684 name: Thickened calvaria def: "The presence of an abnormally thick calvaria." [HPO:curators] synonym: "Calvarial thickening" EXACT [] synonym: "Calvarium thickened" EXACT [] synonym: "Increased calvarial thickness" EXACT [] synonym: "Thick calvaria" EXACT [] synonym: "Thick calvarium" EXACT [] synonym: "Thickened calcaria" EXACT [] synonym: "Thickened calvarium" EXACT [] synonym: "Thickened cranial vault" EXACT [] synonym: "Thickened cranium" EXACT [] synonym: "Thickening of the calvaria" EXACT [] xref: UMLS:C1857647 "Thickened calvaria" is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0002686 name: Prenatal maternal abnormality is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0002687 name: Abnormality of the frontal sinuses is_a: HP:0000245 ! Abnormality of the sinuses [Term] id: HP:0002688 name: Absent frontal sinuses alt_id: HP:0005475 def: "Aplasia of frontal sinus." [HPO:probinson] subset: hposlim_core synonym: "Absence of frontal sinuses" EXACT [] synonym: "Absent frontal sinus" EXACT [] xref: UMLS:C1849544 "Absent frontal sinuses" is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses property_value: HP:0040005 "Aplasia of `frontal sinus` (FMA:57417)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002689 name: Absent paranasal sinuses def: "Aplasia of the paranasal sinuses." [HPO:probinson] xref: UMLS:C1857131 "Absent paranasal sinuses" is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses property_value: HP:0040005 "Aplasia of the `paranasal sinuses` (FMA:76587)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002690 name: Large sella turcica alt_id: HP:0005444 def: "An abnormal enlargement of the sella turcica." [HPO:probinson] subset: hposlim_core synonym: "Enlarged sella turcica" EXACT [] synonym: "Prominent sella turcica" EXACT [] xref: UMLS:C1843677 "Large sella turcica" is_a: HP:0002679 ! Abnormality of the sella turcica property_value: HP:0040005 "An abnormal enlargement of the `sella turcica` (FMA:54709)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002691 name: Platybasia def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [HPO:probinson] comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. subset: hposlim_core xref: MeSH:D010985 "Platybasia" xref: UMLS:C0032209 "Platybasia" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002692 name: Hypoplastic facial bones xref: UMLS:C1846438 "Hypoplastic facial bones" is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0002693 name: Abnormality of the skull base def: "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002694 name: Sclerosis of skull base alt_id: HP:0005757 def: "Increased bone density of the skull base without significant changes in bony contour." [HPO:probinson] synonym: "Marked sclerosis of skull base" EXACT [] synonym: "Sclerosis of the skull base" EXACT [] synonym: "Sclerotic of skull base" EXACT [] is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002695 name: Symmetrical, oval parietal bone defects synonym: "Symmetrical, oval defects in the parietal bone" EXACT [] is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0002696 name: Abnormality of the parietal bone def: "Any abnormality of the parietal bone of the skull." [HPO:curators] is_a: HP:0002648 ! Abnormality of calvarial morphology property_value: HP:0040005 "Any abnormality of the `parietal bone` (FMA:9613) of the skull." xsd:string {xref="HPO:curators"} [Term] id: HP:0002697 name: Parietal foramina def: "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [HPO:probinson] comment: Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. xref: UMLS:C0222706 "Parietal foramina" is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0002699 name: Abnormality of the foramen magnum def: "Any abnormality of the foramen magnum." [HPO:probinson] comment: The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. subset: hposlim_core is_a: HP:0000929 ! Abnormality of the skull property_value: HP:0040005 "Any abnormality of the `foramen magnum` (FMA:75306)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002700 name: Large foramen magnum def: "An abnormal increase in the size of the foramen magnum." [HPO:curators] subset: hposlim_core synonym: "Wide foramen magnum" EXACT [] xref: UMLS:C1867128 "Large foramen magnum" is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002703 name: Abnormality of skull ossification def: "An abnormality of the process of ossification of the skull." [HPO:probinson] comment: The bones of the skull derive directly from mesenchyme cells by intramembranous ossification. is_a: HP:0000929 ! Abnormality of the skull created_by: peter creation_date: 2008-02-28T11:53:00Z [Term] id: HP:0002705 name: High, narrow palate def: "The presence of a high and narrow palate." [HPO:curators] is_a: HP:0000189 ! Narrow palate is_a: HP:0000218 ! High palate [Term] id: HP:0002707 name: Palate telangiectasia alt_id: HP:0000229 def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [HPO:curators] synonym: "Palate telangiectases" EXACT [] synonym: "Palate teleangiectases" EXACT [] xref: UMLS:C0240634 "PALATE TELANGIECTASIA" is_a: HP:0000174 ! Abnormality of the palate is_a: HP:0000228 ! Oral cavity teleangiectasia [Term] id: HP:0002708 name: Prominent median palatal raphe def: "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [HPO:curators] xref: UMLS:C1845108 "Prominent median palatal raphe" is_a: HP:0000174 ! Abnormality of the palate [Term] id: HP:0002710 name: Commissural lip pit def: "A depression located at an oral commissure." [HPO:sdoelken, pmid:19125428] comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. subset: hposlim_core synonym: "Commissural pit" EXACT [] xref: SNOMEDCT:235142002 "Commissural lip pits" xref: UMLS:C0399605 "Commissural lip pits" is_a: HP:0100267 ! Lip pit [Term] id: HP:0002711 name: Exaggerated median tongue furrow def: "Increased depth of the median tongue furrow." [HPO:probinson] xref: UMLS:C1845109 "Exaggerated median tongue furrow" is_a: HP:0000221 ! Furrowed tongue [Term] id: HP:0002714 name: Downturned corners of mouth alt_id: HP:0000192 def: "A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, pmid:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). subset: hposlim_core synonym: "Downturned corners of the mouth" EXACT [] synonym: "Downturned mouth" EXACT [] xref: UMLS:C1854116 "Downturned mouth" is_a: HP:0011338 ! Abnormality of mouth shape property_value: HP:0040005 "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned. The oral commissures are positioned inferior to the midline labial fissure." xsd:string {xref="HPO:probinson", xref="pmid:19125428"} [Term] id: HP:0002715 name: Abnormality of the immune system alt_id: HP:0003257 alt_id: HP:0003346 alt_id: HP:0010986 def: "An abnormality of the immune system." [HPO:probinson] comment: The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. synonym: "Immunological abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "An abnormality of the `immune system` (FMA:9825)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002716 name: Lymphadenopathy alt_id: HP:0002735 def: "Enlargment (swelling) of a lymph node." [HPO:probinson] synonym: "Lymph node hyperplasia" EXACT [] xref: UMLS:C0497156 "Lymphadenopathy" is_a: HP:0002733 ! Abnormality of the lymph nodes property_value: HP:0040005 "Enlargment (swelling) of a `lymph node` (FMA:5034)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002717 name: Adrenal overactivity comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. is_a: HP:0011733 ! Abnormality of adrenal physiology created_by: peter creation_date: 2008-02-25T10:41:00Z [Term] id: HP:0002718 name: Recurrent bacterial infections alt_id: HP:0005355 alt_id: HP:0005361 alt_id: HP:0005367 alt_id: HP:0005391 alt_id: HP:0005393 alt_id: HP:0005410 def: "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." [HPO:probinson] synonym: "Bacterial infections, recurrent" EXACT [] synonym: "Frequent bacterial infections" EXACT [] synonym: "Frequent pyogenic infections" EXACT [] synonym: "Increased susceptibility to bacterial infections" EXACT [] synonym: "Prone to bacterial infection" RELATED [] synonym: "Recurrent major bacterial infections" EXACT [] synonym: "Recurrent pyogenic infections" EXACT [] synonym: "Susceptibility to pyogenic infection" EXACT [] xref: UMLS:C1843998 "Frequent bacterial infections" is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002719 name: Recurrent infections alt_id: HP:0002957 alt_id: HP:0002964 alt_id: HP:0005405 def: "Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection." [HPO:probinson] synonym: "Frequent infections" EXACT [] synonym: "Frequent, severe infections" EXACT [] synonym: "Increased frequency of infection" EXACT [] synonym: "infections, recurrent" EXACT [HPO:skoehler] synonym: "Predisposition to infections" EXACT [] synonym: "Susceptibility to infection" EXACT [] xref: UMLS:C0239998 "Recurrent infections" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002720 name: IgA deficiency alt_id: HP:0005358 alt_id: HP:0005399 alt_id: HP:0005431 alt_id: HP:0008350 def: "Decreased levels of immunoglobulin IgA." [HPO:probinson] synonym: "Decreased IgA" EXACT [] synonym: "Decreased immunoglobulin A" EXACT [] synonym: "Gamma-A globulin deficiency" EXACT [] synonym: "Low levels of immunoglobulin A" EXACT [] synonym: "Reduced IgA levels" EXACT [] xref: MeSH:D017098 "IgA Deficiency" xref: UMLS:C0553533 "Decreased IgA" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002721 name: Immunodeficiency alt_id: HP:0005362 alt_id: HP:0005371 synonym: "Immune deficiency" EXACT [] xref: UMLS:C0021051 "Immunodeficiency" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002722 name: Recurrent abscess formation def: "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses." [HPO:probinson] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002723 name: Absence of bactericidal oxidative 'respiratory burst' in phagocytes is_a: HP:0010977 ! Abnormality of phagocytes [Term] id: HP:0002724 name: Recurrent Aspergillus infections def: "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections." [HPO:probinson] synonym: "Aspergillus infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0851807 "Aspergillus infections" is_a: HP:0002841 ! Recurrent fungal infections [Term] id: HP:0002725 name: Systemic lupus erythematosus def: "A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes." [HPO:probinson] comment: This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. xref: MeSH:D008180 "Lupus Erythematosus, Systemic" xref: UMLS:C0024141 "Lupus Erythematosus, Systemic" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0002726 name: Recurrent Staphylococcus aureus infections def: "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection." [HPO:probinson] synonym: "Staphylococcus aureus infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C1318973 "Staphylococcus aureus infections" is_a: HP:0007499 ! Recurrent staphylococcal infections [Term] id: HP:0002728 name: Chronic mucocutaneous candidiasis alt_id: HP:0005392 def: "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [HPO:probinson, pmid:20859203] comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. synonym: "Chronic candidiasis of mucosa, skin and nails" EXACT [] synonym: "Mucocutaneous candidiasis" EXACT [] xref: MeSH:D002178 "Candidiasis, Chronic Mucocutaneous" xref: UMLS:C0006848 "Mucocutaneous candidiasis" is_a: HP:0002841 ! Recurrent fungal infections is_a: HP:0011370 ! Recurrent cutaneous fungal infections [Term] id: HP:0002729 name: Follicular hyperplasia def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [HPO:probinson] is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002730 name: Chronic noninfectious lymphadenopathy def: "A chronic form of lymphadenopathy that is not related to infection." [HPO:probinson] xref: UMLS:C1858970 "Chronic noninfectious lymphadenopathy" is_a: HP:0002716 ! Lymphadenopathy property_value: HP:0040005 "A chronic form of `lymphadenopathy` (HP:0002716) that is not related to infection." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002731 name: Defective lymphocyte apoptosis def: "A defect in apoptosis in lymphocytes." [HPO:probinson] comment: Apoptosis is a form of programmed cell death. xref: UMLS:C1858969 "Defective lymphocyte apoptosis" is_a: HP:0004332 ! Abnormality of lymphocytes property_value: HP:0040005 "A defect in `apoptosis` (GO:0006915) in `lymphocytes` (CL:0000542)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002732 name: Lymph node hypoplasia def: "Underdevelopment of the lymph nodes." [HPO:probinson] synonym: "Small lymph nodes" RELATED [] xref: UMLS:C1865377 "Small lymph nodes" is_a: HP:0002733 ! Abnormality of the lymph nodes property_value: HP:0040005 "Underdevelopment of the `lymph nodes` (FMA:5034)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002733 name: Abnormality of the lymph nodes alt_id: HP:0008149 def: "A lymph node abnormality." [HPO:probinson] synonym: "Abnormal lymph node histology" EXACT [] is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: HP:0040005 "A `lymph node` (FMA:5034) abnormality." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002737 name: Thick skull base xref: UMLS:C1839507 "Thick skull base" is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002738 name: Hypoplastic frontal sinuses def: "Underdevelopment of frontal sinus." [HPO:probinson] synonym: "Underdeveloped frontal sinuses" EXACT [] xref: UMLS:C1850969 "Hypoplastic frontal sinuses" is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses property_value: HP:0040005 "Underdevelopment of `frontal sinus` (FMA:57417)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002740 name: Recurrent E. coli infections def: "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] synonym: "E coli infections" EXACT [] synonym: "E coli infections, recurrent" EXACT [HPO:skoehler] is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002741 name: Recurrent Serratia marcescens infections def: "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection." [HPO:probinson] xref: UMLS:C1096571 "Serratia marcescens infections" is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002742 name: Recurrent Klebsiella infections def: "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection." [HPO:probinson] synonym: "Klebsiella infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0022729 "Klebsiella Infections" is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002743 name: Recurrent enteroviral infections def: "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection." [HPO:probinson] xref: UMLS:C1843999 "Severe enteroviral infections" is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0002744 name: Bilateral cleft lip and palate def: "Cleft lip and cleft palate affecting both sides of the face." [HPO:probinson] synonym: "Bilateral cleft lip and cleft palate" EXACT [] is_a: HP:0100336 ! Bilateral cleft lip is_a: HP:0100337 ! Bilateral cleft palate [Term] id: HP:0002745 name: Oral leukoplakia def: "A white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, pmid:17944749] comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. subset: hposlim_core synonym: "leukokeratosis" EXACT [HPO:SKOEHLER] xref: MeSH:D007972 "Leukoplakia, Oral" xref: SNOMEDCT:50978000 "Leukoplakia" xref: UMLS:C0023532 "Leukoplakia, Oral" is_a: HP:0011830 ! Abnormality of oral mucosa [Term] id: HP:0002747 name: Respiratory insufficiency due to muscle weakness alt_id: HP:0004882 alt_id: HP:0004888 synonym: "Decreased respiratory function due to muscle weakness" EXACT [] synonym: "Respiratory distress due to muscle weakness" EXACT [] synonym: "Respiratory failure due to muscle weakness" EXACT [] synonym: "Respiratory muscle weakness" EXACT [] xref: UMLS:C1836141 "Respiratory muscle weakness" is_a: HP:0002093 ! Respiratory insufficiency is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002748 name: Rickets xref: MeSH:D012279 "Rickets" xref: UMLS:C0035579 "Rickets" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002749 name: Osteomalacia def: "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] xref: MeSH:D010018 "Osteomalacia" xref: UMLS:C0029442 "Osteomalacia" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002750 name: Delayed skeletal maturation alt_id: HP:0000928 alt_id: HP:0002806 def: "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] synonym: "Delayed bone age" EXACT [] synonym: "Delayed bone age before puberty" EXACT [] synonym: "Delayed bone maturation" EXACT [] synonym: "Delayed skeletal development" EXACT [] synonym: "Retarded bone age" EXACT [] synonym: "Skeletal maturation retardation" EXACT [] xref: UMLS:C1850086 "Delayed skeletal maturation" is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0002751 name: Kyphoscoliosis alt_id: HP:0003412 alt_id: HP:0003424 alt_id: HP:0004593 alt_id: HP:0005728 def: "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [HPO:probinson] xref: UMLS:C0600033 "Kyphoscoliosis" is_a: HP:0002650 ! Scoliosis is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002752 name: Sparse bone trabeculae xref: UMLS:C1833324 "Sparse bone trabeculae" is_a: HP:0100671 ! Abnormal trabecular bone morphology [Term] id: HP:0002753 name: Thin bony cortex alt_id: HP:0003104 def: "Abnormal thinning of the cortical region of bones." [HPO:curators] synonym: "Thin cortices" EXACT [] xref: UMLS:C1833325 "Thin bony cortex" is_a: HP:0003103 ! Abnormal cortical bone morphology [Term] id: HP:0002754 name: Osteomyelitis def: "An infection of bone." [HPO:probinson] comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. xref: MeSH:D010019 "Osteomyelitis" xref: UMLS:C0029443 "Osteomyelitis" is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0002755 name: Osteomyelitis due to immunodeficiency is_a: HP:0002721 ! Immunodeficiency is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0002756 name: Pathologic fracture alt_id: HP:0005633 def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] synonym: "PATHOLOGIC FRACTURES" RELATED [HPO:skoehler] synonym: "Spontaneous fracture" EXACT [] synonym: "SPONTANEOUS FRACTURES" RELATED [HPO:skoehler] xref: UMLS:C0016663 "Fractures, Pathologic" is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002757 name: Recurrent fractures alt_id: HP:0002660 alt_id: HP:0002767 alt_id: HP:0002809 def: "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] comment: This term will be made obsolete. The annotations need to be checked. synonym: "Increased fracture rate" EXACT [] synonym: "Increased fractures" EXACT [] synonym: "Multiple fractures" EXACT [] synonym: "Multiple spontaneous fractures" EXACT [] synonym: "Varying degree of multiple fractures" EXACT [] xref: UMLS:C1838660 "Increased fractures" is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002758 name: Osteoarthritis alt_id: HP:0002824 alt_id: HP:0005762 xref: MeSH:D010003 "Osteoarthritis" xref: UMLS:C0029408 "Osteoarthritis" is_a: HP:0001369 ! Arthritis [Term] id: HP:0002761 name: Generalized joint laxity def: "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] synonym: "JOINT LAXITY, GENERALIZED" RELATED [HPO:skoehler] xref: UMLS:C1836308 "Generalized joint laxity" is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0002762 name: Multiple exostoses def: "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson] xref: UMLS:C0015306 "Exostoses, Multiple" is_a: HP:0100777 ! Exostoses [Term] id: HP:0002763 name: Abnormal cartilage morphology def: "Any abnormality of cartilage." [HPO:probinson] is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0002764 name: Stippled chondral calcification is_a: HP:0002832 ! Calcific stippling is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0002766 name: Relatively short spine is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0002773 name: obsolete Small vertebral bodies comment: Removed/merged after speaking with Peter. The defintion was: "has_part some ('decreased size' and ('inheres in' some 'bony vertebral centrum'))" synonym: "Small vertebrae" EXACT [] xref: UMLS:C1857133 "Small vertebral bodies" is_obsolete: true replaced_by: HP:0008479 [Term] id: HP:0002777 name: Tracheal stenosis xref: MeSH:D014135 "Tracheal Stenosis" xref: UMLS:C0040583 "Tracheal Stenosis" is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002778 name: Abnormality of the trachea def: "An anomaly of the trachea." [HPO:probinson] synonym: "Tracheal disease" RELATED [] is_a: HP:0005607 ! Abnormality of the tracheobronchial system property_value: HP:0040005 "An anomaly of the `trachea` (FMA:7394)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002779 name: Tracheomalacia xref: MeSH:D055090 "Tracheomalacia" xref: UMLS:C0948187 "Tracheomalacia" is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002780 name: Bronchomalacia xref: MeSH:D055091 "Bronchomalacia" xref: UMLS:C0340231 "BRONCHOMALACIA" is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002781 name: Upper airway obstruction def: "Increased resistance to the passage of air in the upper airway." [HPO:probinson] subset: hposlim_core xref: UMLS:C0740852 "Upper airway obstruction" is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0002783 name: Recurrent lower respiratory tract infections alt_id: HP:0004884 alt_id: HP:0005955 def: "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections." [HPO:probinson] synonym: "Chronic lung infections" EXACT [] synonym: "Lower respiratory tract infections" EXACT [] synonym: "Recurrent chest infections" EXACT [] xref: UMLS:C0585953 "Recurrent chest infections" is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002786 name: Tracheobronchomalacia def: "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways." [HPO:probinson] xref: MeSH:D055089 "Tracheobronchomalacia" is_a: HP:0002779 ! Tracheomalacia is_a: HP:0002780 ! Bronchomalacia [Term] id: HP:0002787 name: Tracheal calcification def: "Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:probinson, pmid:18663210] synonym: "Calcification of the trachea" EXACT [] synonym: "Tracheal calcifications" EXACT [] synonym: "Tracheal ectopic calcification" EXACT [] xref: UMLS:C0264324 "Tracheal calcifications" is_a: HP:0002778 ! Abnormality of the trachea is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002788 name: Recurrent upper respiratory tract infections alt_id: HP:0001740 alt_id: HP:0002784 def: "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [HPO:probinson] synonym: "Frequent upper respiratory infections" EXACT [] synonym: "Frequent upper respiratory tract infections" EXACT [] synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT [] synonym: "Recurrent upper respiratory infection" EXACT [] synonym: "Recurrent upper respiratory infections" EXACT [] synonym: "Upper respiratory tract infections" EXACT [] synonym: "Upper respiratory tract infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0581381 "Recurrent upper respiratory tract infections" is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002789 name: Tachypnea alt_id: HP:0002874 alt_id: HP:0004346 def: "Very rapid breathing." [HPO:probinson] comment: In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. synonym: "Increased respiratory rate or depth of breathing" EXACT [] synonym: "Polypnea" EXACT [] xref: MeSH:D059246 "Tachypnea" xref: UMLS:C0231835 "Increased respiratory rate" xref: UMLS:C1142291 "Polypnea" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002790 name: Neonatal breathing dysregulation xref: UMLS:C1837722 "Neonatal breathing dysregulation" is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0002791 name: Hypoventilation alt_id: HP:0004892 def: "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [HPO:probinson] synonym: "Alveolar hypoventilation" EXACT [] xref: MeSH:D007040 "Hypoventilation" xref: UMLS:C0398353 "Hypoventilation" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002792 name: Reduced vital capacity def: "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [HPO:probinson] synonym: "Decreased vital capacity" EXACT [] xref: UMLS:C0476408 "Reduced vital capacity" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002793 name: Abnormal pattern of respiration def: "An anomaly of the rhythm or depth of breathing." [HPO:probinson] synonym: "Abnormal respiratory patterns" EXACT [] xref: UMLS:C1837388 "Abnormal respiratory patterns" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002795 name: Functional respiratory abnormality comment: This category describes not-primarily structural lesions. is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002797 name: Osteolysis alt_id: HP:0010737 def: "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." [HPO:probinson] comment: Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. synonym: "Increased bone resorption" EXACT [HPO:sdoelken] synonym: "Osteolytic defects of bones" EXACT [] xref: MeSH:D010014 "Osteolysis" xref: UMLS:C0029435 "Osteolysis" is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0002803 name: Congenital contracture def: "One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth." [HPO:probinson] synonym: "congenital contractures" EXACT [HPO:skoehler] synonym: "Congenital joint contractures" EXACT [] xref: UMLS:C0332878 "Congenital contractures" is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002804 name: Arthrogryposis multiplex congenita alt_id: HP:0001389 alt_id: HP:0001390 alt_id: HP:0002759 alt_id: HP:0005188 alt_id: HP:0005663 alt_id: HP:0005809 alt_id: HP:0005859 def: "A non-progressive finding characterized by multiple joint contractures found throughout the body at birth." [HPO:probinson] comment: Arthrogryposis multiplex congenita (AMC) is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. synonym: "Arthrogryposis" EXACT [] synonym: "Arthrogryposis multiplex" EXACT [] synonym: "Arthrogryposis, congenital" EXACT [] synonym: "Multiple congenital contractures" EXACT [] xref: UMLS:C1832739 "Arthrogryposis multiplex" is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0002805 name: Accelerated bone age after puberty is_a: HP:0005616 ! Accelerated skeletal maturation [Term] id: HP:0002808 name: Kyphosis alt_id: HP:0002769 alt_id: HP:0003314 def: "Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] subset: hposlim_core synonym: "Gibbus deformity" EXACT [] synonym: "Hyperkyphosis" EXACT [] synonym: "Round back" EXACT [] xref: MeSH:D007738 "Kyphosis" xref: SNOMEDCT:414564002 "Kyphosis deformity of spine" xref: UMLS:C0265673 "Kyphosis" xref: UMLS:C1845112 "Hyperkyphosis" is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002810 name: Dumbbell-shaped metaphyses alt_id: HP:0005079 synonym: "Dumbbell shaped metaphyses" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0002812 name: Coxa vara def: "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." [HPO:probinson] comment: The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. xref: MeSH:D060905 "Coxa vara" xref: UMLS:C0239138 "Coxa vara" is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0002813 name: Abnormality of limb bone morphology def: "Any abnormality of bones of the arms or legs." [HPO:probinson] synonym: "Limb abnormality" EXACT [] is_a: HP:0011844 ! Abnormal appendicular skeleton morphology is_a: HP:0040068 ! Abnormality of limb bone [Term] id: HP:0002814 name: Abnormality of the lower limb def: "An abnormality of the leg." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the leg" EXACT [] synonym: "Lower limb deformities" EXACT [] xref: UMLS:C1096086 "Lower limb deformities" is_a: HP:0040064 ! Abnormality of limbs property_value: HP:0040005 "An abnormality of the `leg` (FMA:24979)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002815 name: Abnormality of the knees def: "An abnormality of the knee joint or surrounding structures." [HPO:probinson] subset: hposlim_core is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0002816 name: Genu recurvatum def: "An abnormally increased extension of the knee joint, so that the knee can bend backwards." [HPO:probinson, pmid:9580896] comment: Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension. subset: hposlim_core synonym: "Genu recurvata" EXACT [] xref: MEDRA:10018194 "Genu recurvatum" xref: UMLS:C0152235 "Genu recurvatum" is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002817 name: Abnormality of the upper limb alt_id: HP:0003838 def: "An abnormality of the arm." [HPO:probinson] synonym: "Abnormality of the arm" EXACT [] is_a: HP:0040064 ! Abnormality of limbs property_value: HP:0040005 "An abnormality of the `arm` (FMA:24890)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002818 name: Abnormality of the radius def: "An abnormality of the radius." [HPO:probinson] subset: hposlim_core is_a: HP:0040072 ! Abnormality of forearm bone property_value: HP:0040005 "An abnormality of the `radius` (FMA:23463)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002821 name: Neuropathic arthropathy xref: UMLS:C0003892 "Neuropathic arthropathy" is_a: HP:0003040 ! Arthropathy [Term] id: HP:0002822 name: Hyperplasia of the femoral trochanters synonym: "Hyperplastic femoral trochanters" EXACT [] is_a: HP:0003366 ! Abnormality of the femoral neck or head region is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0002823 name: Abnormality of the femur alt_id: HP:0001439 def: "Abnormality of the femur." [HPO:probinson] comment: The femur (plural: femora) is the thigh bone. synonym: "Abnormality of the femora" EXACT [] is_a: HP:0040069 ! Abnormality of lower limb bone property_value: HP:0040005 "Abnormality of the `femur` (FMA:9611)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002825 name: Caudal appendage def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] subset: hposlim_core synonym: "Coccygeal tail" EXACT [] is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002826 name: Halberd-shaped pelvis is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0002827 name: Hip dislocation alt_id: HP:0001375 def: "Displacement of the femur from its normal location in the hip joint." [HPO:probinson] synonym: "Dislocated hips" EXACT [] synonym: "Dislocation of hip" EXACT [] xref: MeSH:D006617 "Hip Dislocation" xref: UMLS:C0434785 "Hip subluxation" is_a: HP:0001373 ! Joint dislocation is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0002828 name: Multiple joint contractures xref: UMLS:C0158118 "Multiple joint contractures" is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002829 name: Arthralgia def: "Joint pain." [HPO:probinson] synonym: "Arthralgias" EXACT [] synonym: "Joint pain" EXACT [] synonym: "JOINT PAINS" RELATED [HPO:skoehler] xref: MeSH:D018771 "Arthralgia" xref: UMLS:C0003862 "Arthralgia" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0002831 name: Long coccyx is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002832 name: Calcific stippling alt_id: HP:0005738 def: "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)." [HPO:curators] synonym: "Discrete calcific stippling" EXACT [] xref: UMLS:C1849993 "Calcific stippling" is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002833 name: Cystic angiomatosis of bone def: "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping." [HPO:probinson, pmid:11930062] comment: The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. synonym: "Lytic cystic lesions in appendicular bones" EXACT [] is_a: HP:0012062 ! Bone cyst [Term] id: HP:0002834 name: Flared femoral metaphysis is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0002835 name: Aspiration def: "Inspiration of a foreign object into the airway." [HPO:probinson] xref: UMLS:C0700198 "Aspiration" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002836 name: Bladder exstrophy def: "Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall " [HPO:probinson, pmid:23650202] comment: Exstrophy of the bladder can be associated with Epispadias and Bifid penis or in females with Bifid clitoris, a bifid uterus, and a Septated vagina, each of which should be coded separately. xref: MeSH:D001746 "Bladder exstrophy" xref: UMLS:C0005689 "Bladder Exstrophy" is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0100548 ! Exstrophy property_value: HP:0040005 "`Eversion` (PATO:0001597) of the `urinary bladder` (FMA:15900). This is a congenital anomaly in which part of the bladder is everted outside of the abdominal wall." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002837 name: Recurrent bronchitis alt_id: HP:0002785 def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [HPO:probinson] synonym: "Bronchitis, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0741796 "Recurrent bronchitis" is_a: HP:0002109 ! Abnormality of the bronchi is_a: HP:0002788 ! Recurrent upper respiratory tract infections is_a: HP:0012387 ! Bronchitis [Term] id: HP:0002839 name: Urinary bladder sphincter dysfunction alt_id: HP:0000018 def: "Abnormal function of a sphincter of the urinary bladder." [HPO:probinson] synonym: "Sphincter disturbance" EXACT [] synonym: "Sphincter disturbances" EXACT [] xref: UMLS:C1843663 "Sphincter disturbances" is_a: HP:0000009 ! Functional abnormality of the bladder property_value: HP:0040005 "Abnormal function of a sphincter of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002840 name: Lymphadenitis def: "Inflammation of a lymph node." [HPO:probinson] xref: MeSH:D008199 "Lymphadenitis" xref: UMLS:C0024205 "Lymphadenitis" is_a: HP:0002733 ! Abnormality of the lymph nodes property_value: HP:0040005 "Inflammation of a `lymph node` (FMA:5034)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002841 name: Recurrent fungal infections alt_id: HP:0005350 alt_id: HP:0005380 alt_id: HP:0005388 def: "Increased susceptibility to fungal infections, as manifested by recurrent episodes of fungal infection." [HPO:probinson] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002842 name: Recurrent Burkholderia cepacia infections def: "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] xref: UMLS:C1610617 "Burkholderia cepacia infections" is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002843 name: Abnormality of T cells alt_id: HP:0002734 def: "An abnormality of T cells." [HPO:curators] comment: T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. synonym: "Abnormal T cells" EXACT [HPO:skoehler] synonym: "Cellular immune defect" EXACT [] synonym: "Defective cellular immunity" EXACT [] xref: UMLS:C1533651 "Cellular immune defect" is_a: HP:0004332 ! Abnormality of lymphocytes property_value: HP:0040005 "An abnormality of `T cells` (CL:0000084)." xsd:string {xref="HPO:curators"} [Term] id: HP:0002845 name: Increased number of peripheral CD3+ T cells is_a: HP:0100828 ! Increase in T cell number [Term] id: HP:0002846 name: Abnormality of B cells def: "An abnormality of B cells." [HPO:probinson] comment: B-cells are lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. synonym: "Abnormal B cells" EXACT [HPO:skoehler] is_a: HP:0004332 ! Abnormality of lymphocytes property_value: HP:0040005 "An abnormality of `B cells` (CL:0000236)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002847 name: Impaired memory B-cell generation def: "Impaired production of memory cells, the B-cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge." [HPO:probinson] is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002848 name: Specific anti-polysaccharide antibody deficiency def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides." [HPO:probinson] comment: Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus. synonym: "Depressed antibody response to polysaccharide antigens" EXACT [] is_a: HP:0012475 ! Specific antibody deficiency [Term] id: HP:0002849 name: Absence of lymph node germinal center def: "Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses." [HPO:probinson] synonym: "Lymph nodes lack germinal center" EXACT [] synonym: "Lymphoid germinal center defect" EXACT [] is_a: HP:0002733 ! Abnormality of the lymph nodes property_value: HP:0040005 "Absence of germinal centers in `lymph nodes` (FMA:5034). Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002850 name: IgM deficiency alt_id: HP:0003147 alt_id: HP:0005385 def: "An abnormally decreased level of immunoglobulin IgM in blood." [HPO:probinson] synonym: "Decreased IgM" EXACT [] synonym: "Decreased IgM level" EXACT [] synonym: "Reduced IgM levels" EXACT [] xref: UMLS:C0239989 "Decreased IgM" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002851 name: Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors is_a: HP:0100828 ! Increase in T cell number [Term] id: HP:0002853 name: Increased proportion of HLA DR+ and CD57+ T cells is_a: HP:0011839 ! Abnormality of T cell number [Term] id: HP:0002857 name: Genu valgum alt_id: HP:0004999 def: "The legs angle inward, such that the knees are close together and the ankles far apart." [HPO:probinson] subset: hposlim_core synonym: "Genu valga" EXACT [] synonym: "Genu valgus" EXACT [] synonym: "Genua valga" EXACT [] synonym: "Knee joint valgus deformity" EXACT [] synonym: "Knock knees" EXACT [] xref: MEDRA:10023480 "Knock-knee" xref: MeSH:D056304 "Genu valgum" xref: SNOMEDCT:299330008 "Knee joint valgus deformity" xref: UMLS:C0576093 "Genu valgum" is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002858 name: Meningioma alt_id: HP:0006754 def: "The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater." [HPO:probinson] synonym: "Meligioma" EXACT [] synonym: "Mengioma" EXACT [] synonym: "Mengiomia" EXACT [] synonym: "Menigiom" EXACT [] synonym: "Menigioma" EXACT [] xref: MeSH:D008579 "Meningioma" xref: UMLS:C1762616 "Meningioma" is_a: HP:0100835 ! Benign neoplasm of the central nervous system property_value: HP:0040005 "The presence of a `meningioma` (MPATH:251), i.e., a benign tumor originating from the `dura mater` (FMA:9592) or `arachnoid mater` (FMA:9591)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002859 name: Rhabdomyosarcoma xref: MeSH:D012208 "Rhabdomyosarcoma" xref: UMLS:C0035412 "Rhabdomyosarcoma" is_a: HP:0009728 ! Neoplasm of striated muscle is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002860 name: Squamous cell carcinoma def: "The presence of squamous cell carcinoma of the skin." [HPO:probinson] xref: UMLS:C0007137 "Squamous cell carcinoma" is_a: HP:0008069 ! Neoplasm of the skin property_value: HP:0040005 "The presence of `squamous cell carcinoma` (MPATH:446) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002861 name: Melanoma alt_id: HP:0002887 alt_id: HP:0006777 alt_id: HP:0007474 def: "The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)." [HPO:probinson] comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. synonym: "Malignant melanoma" EXACT [] xref: MeSH:D008545 "Melanoma" xref: UMLS:C0025202 "Malignant Melanoma" is_a: HP:0011792 ! Neoplasm by histology property_value: HP:0040005 "The presence of a `melanoma` (MPATH:359), a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002862 name: Bladder carcinoma def: "The presence of a carcinoma of the urinary bladder." [HPO:probinson] xref: UMLS:C0699885 "BLADDER CARCINOMA" is_a: HP:0009725 ! Bladder neoplasm property_value: HP:0040005 "The presence of a `carcinoma` (MPATH:549) of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002863 name: Myelodysplasia alt_id: HP:0004832 alt_id: HP:0006730 def: "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [HPO:probinson] synonym: "Hypoplastic myelodysplasia" RELATED [] synonym: "Myelodysplastic syndrome" EXACT [] xref: MeSH:D009190 "Myelodysplastic Syndromes" xref: UMLS:C0026986 "MYELODYSPLASTIC SYNDROME" xref: UMLS:C1851971 "Hypoplastic myelodysplasia" xref: UMLS:C1963099 "Myelodysplasia" is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002864 name: Paraganglioma of head and neck synonym: "Paragangliomas, head and neck" EXACT [] is_a: HP:0002668 ! Paraganglioma [Term] id: HP:0002865 name: Medullary thyroid carcinoma def: "The presence of a medullary carcinoma of the thyroid gland." [HPO:probinson] xref: UMLS:C0238462 "Medullary thyroid carcinoma" is_a: HP:0002890 ! Thyroid carcinoma property_value: HP:0040005 "The presence of a `medullary carcinoma` (MPATH:291) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002866 name: Hypoplastic iliac wing alt_id: HP:0003169 alt_id: HP:0003181 alt_id: HP:0008837 def: "Underdevelopment of the ilium ala." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic iliac alae" EXACT [] synonym: "Hypoplastic iliac wings" EXACT [] synonym: "Small iliac wings" EXACT [] xref: UMLS:C1850045 "Hypoplastic iliac wings" is_a: HP:0000946 ! Hypoplastic ilia is_a: HP:0011867 ! Abnormality of the wing of the ilium property_value: HP:0040005 "Underdevelopment of the `ilium ala` (FMA:42826)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002867 name: Abnormality of the ilium def: "An abnormality of the ilium, the largest and uppermost bone of the pelvis." [HPO:probinson] subset: hposlim_core synonym: "Iliac abnormalities" EXACT [] is_a: HP:0003272 ! Abnormality of the hip bone property_value: HP:0040005 "An abnormality of the `ilium` (FMA:16589), the largest and uppermost bone of the pelvis." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002868 name: Narrow iliac wings def: "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:probinson] subset: hposlim_core is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0002869 name: Flared iliac wings def: "Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing." [HPO:probinson] subset: hposlim_core synonym: "Flared iliac wing" EXACT [] is_a: HP:0011867 ! Abnormality of the wing of the ilium property_value: HP:0040005 "Widening of the `ilium ala` (FMA:42826), that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002870 name: Obstructive sleep apnea def: "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:probinson] synonym: "Obstructive sleep apnoea" RELATED [] xref: MeSH:D020181 "Sleep Apnea, Obstructive" xref: UMLS:C0520679 "Obstructive sleep apnoea" is_a: HP:0010535 ! Sleep apnea [Term] id: HP:0002871 name: Central apnea def: "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [HPO:curators] synonym: "Central apnoea" EXACT [] xref: UMLS:C0520680 "Central sleep apnoea" is_a: HP:0002104 ! Apnea [Term] id: HP:0002872 name: Apneic episodes precipitated by illness, fatigue, stress def: "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [HPO:curators] synonym: "Episodic apnea induced by febrile illness or stress" EXACT [] is_a: HP:0002104 ! Apnea [Term] id: HP:0002875 name: Exertional dyspnea xref: UMLS:C0231807 "Exertional dyspnea" is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002876 name: Episodic tachypnea alt_id: HP:0002881 def: "Episodes of very rapid breathing." [HPO:probinson] synonym: "Hyperpnea, episodic" EXACT [] is_a: HP:0002789 ! Tachypnea [Term] id: HP:0002877 name: Nocturnal hypoventilation xref: UMLS:C1843643 "Nocturnal hypoventilation" is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0002878 name: Respiratory failure alt_id: HP:0004877 def: "A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits." [HPO:probinson] comment: Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg). is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002879 name: Anisospondyly def: "Abnormally increased variability of the size of the vertebral bodies." [HPO:probinson] xref: UMLS:C1857101 "Anisospondyly" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002880 name: Respiratory difficulties xref: UMLS:C0013404 "Breathing Difficulties" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002882 name: Sudden episodic apnea def: "Recurrent bouts of sudden, severe apnea that may be life-threatening." [HPO:probinson] is_a: HP:0002104 ! Apnea [Term] id: HP:0002883 name: Hyperventilation def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [HPO:probinson] xref: MeSH:D006985 "Hyperventilation" xref: UMLS:C0020578 "Hyperventilation" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002884 name: Hepatoblastoma def: "A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts." [eMedicine:986802, HPO:probinson] comment: Hepatoblastoma occurs nearly exclusively in infants and children. xref: MeSH:D018197 "Hepatoblastoma" xref: UMLS:C0206624 "Hepatoblastoma" is_a: HP:0002896 ! Neoplasm of the liver is_a: HP:0002898 ! Embryonal neoplasm property_value: HP:0040005 "A kind of `neoplasm of the liver` (HP:0002896) that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts." xsd:string {xref="HPO:probinson", xref="eMedicine:986802"} [Term] id: HP:0002885 name: Medulloblastoma def: "A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults." [HPO:probinson] comment: Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors. xref: MeSH:D008527 "Medulloblastoma" xref: UMLS:C0025149 "medulloblastoma" is_a: HP:0100836 ! Malignant neoplasm of the central nervous system property_value: HP:0040005 "A rapidly growing embryonic tumor arising in the posterior part of the `cerebellar vermis` (FMA:76928) and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the `cerebellum` (FMA:67944) in adults." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002886 name: Vagal paraganglioma synonym: "Glomus vagale paraganglioma" RELATED [] synonym: "Vagal nerve tumors" EXACT [] synonym: "Vagal nerve tumors (glomus vagale)" EXACT [] is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0002888 name: Ependymoma def: "The presence of an ependymoma of the central nervous system." [HPO:probinson] comment: According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign. xref: MeSH:D004806 "Ependymoma" xref: UMLS:C0014474 "Ependymoma" is_a: HP:0009733 ! Glioma property_value: HP:0040005 "The presence of an `ependymoma` (MPATH:247) of the `central nervous system` (FMA:55675)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002890 name: Thyroid carcinoma def: "The presence of a carcinoma of the thyroid gland." [HPO:probinson] xref: UMLS:C0549473 "Thyroid carcinoma" is_a: HP:0100031 ! Neoplasm of the thyroid gland property_value: HP:0040005 "The presence of a `carcinoma` (MPATH:549) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002891 name: Uterine leiomyosarcoma def: "The presence of a leiomyosarcoma of the uterus." [HPO:probinson] comment: Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. xref: UMLS:C0280631 "Uterine leiomyosarcoma" is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0100243 ! Leiomyosarcoma property_value: HP:0040005 "The presence of a `leiomyosarcoma` (MPATH:426) of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002893 name: Pituitary adenoma def: "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis." [DDD:spark] comment: In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. xref: ICD-O:M8272/0 "Pituitary adenoma" xref: UMLS:C0032000 "Pituitary Adenoma" is_a: HP:0011750 ! Neoplasm of the anterior pituitary [Term] id: HP:0002894 name: Neoplasm of the pancreas alt_id: HP:0004511 def: "A tumor (abnormal growth of tissue) of the pancreas." [HPO:probinson] synonym: "Cancer of the pancreas" EXACT [] synonym: "increased risk of pancreatic cancer" RELATED [] synonym: "Neoplasia of the pancreas" EXACT [] synonym: "Pancreatic cancer" EXACT [] xref: UMLS:C0235974 "Pancreatic Cancer" is_a: HP:0001732 ! Abnormality of the pancreas is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002895 name: Papillary thyroid carcinoma def: "The presence of a papillary adenocarcinoma of the thyroid gland." [HPO:probinson] synonym: "Papillary carcinoma of thyroid" EXACT [] synonym: "Thyroid papillary carcinoma" EXACT [] xref: UMLS:C0238463 "THYROID PAPILLARY CARCINOMA" is_a: HP:0002890 ! Thyroid carcinoma property_value: HP:0040005 "The presence of a `papillary adenocarcinoma` (MPATH:295) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002896 name: Neoplasm of the liver def: "A tumor (abnormal growth of tissue) of the liver." [HPO:probinson] synonym: "Liver cancer" EXACT [] xref: UMLS:C0279000 "Liver Cancer" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002897 name: Parathyroid adenoma alt_id: HP:0008257 def: "A benign tumor of the parathyroid gland that can cause hyperparathyroidism." [HPO:probinson] synonym: "Parathyroid adenomas" EXACT [] xref: ICD-10:D35.1 "Benign neoplasm: Parathyroid gland" xref: UMLS:C0262587 "Parathyroid Adenomas" is_a: HP:0100733 ! Neoplasm of the parathyroid gland [Term] id: HP:0002898 name: Embryonal neoplasm synonym: "Embryonal neoplasia" EXACT [] synonym: "Embryonal tumors" EXACT [] xref: UMLS:C0027654 "Embryonal tumors" is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0002900 name: Hypokalemia def: "An abnormally decreased potassium concentration in the blood." [HPO:probinson] xref: MeSH:D007008 "Hypokalemia" xref: UMLS:C0020621 "HYPOKALAEMIA" is_a: HP:0011042 ! Abnormality of potassium homeostasis property_value: HP:0040005 "An abnormally decreased `potassium` (CHEBI:29103) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002901 name: Hypocalcemia def: "An abnormally decreased calcium concentration in the blood." [HPO:curators] synonym: "Hypocalcaemia" EXACT [] xref: MeSH:D006996 "Hypocalcemia" xref: UMLS:C0020598 "HYPOCALCAEMIA" is_a: HP:0040077 ! Abnormal concentration of calcium in blood property_value: HP:0040005 "An abnormally decreased `calcium` (CHEBI:29108) concentration in the blood." xsd:string {xref="HPO:curators"} [Term] id: HP:0002902 name: Hyponatremia def: "An abnormally decreased sodium concentration in the blood." [HPO:probinson] xref: MeSH:D007010 "Hyponatremia" xref: UMLS:C0020625 "Hyponatremia" is_a: HP:0010931 ! Abnormality of sodium homeostasis property_value: HP:0040005 "An abnormally decreased `sodium` (CHEBI:29101) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002904 name: Hyperbilirubinemia def: "An increased amount of bilirubin in the blood." [HPO:probinson] xref: MeSH:D006932 "Hyperbilirubinemia" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An increased amount of `bilirubin` (CHEBI:16990) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002905 name: Hyperphosphatemia def: "An abnormally increased phosphate concentration in the blood." [HPO:gcarletti] xref: MeSH:D054559 "Hyperphosphatemia" xref: UMLS:C0085681 "HYPERPHOSPHATAEMIA" is_a: HP:0100529 ! Abnormality of phosphate homeostasis property_value: HP:0040005 "An abnormally increased `phosphate` (CHEBI:18367) concentration in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0002907 name: Microscopic hematuria def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [HPO:sdoelken] synonym: "Microhematuria" EXACT [] xref: UMLS:C0239937 "Microscopic haematuria" is_a: HP:0000790 ! Hematuria [Term] id: HP:0002908 name: Conjugated hyperbilirubinemia alt_id: HP:0008351 synonym: "Direct hyperbilirubinemia" EXACT [] xref: UMLS:C1859663 "Direct hyperbilirubinemia" is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0002909 name: Generalized aminoaciduria alt_id: HP:0008284 alt_id: HP:0008317 def: "An increased concentration of all types of amino acid in the urine." [HPO:probinson] comment: This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. synonym: "Generalized nonspecific aminoaciduria" EXACT [] xref: UMLS:C1847868 "Generalized aminoaciduria" is_a: HP:0003355 ! Aminoaciduria property_value: HP:0040005 "An increased concentration of all types of `amino acid` (CHEBI:33709 ) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002910 name: Elevated hepatic transaminases alt_id: HP:0001411 alt_id: HP:0003143 alt_id: HP:0003156 alt_id: HP:0003293 alt_id: HP:0006567 alt_id: HP:0006578 alt_id: HP:0008267 alt_id: HP:0008342 def: "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:probinson] synonym: "Abnormal liver enzymes" EXACT [] synonym: "Abnormal liver function" EXACT [] synonym: "Abnormal liver function tests" EXACT [] synonym: "Elevated liver enzymes" EXACT [] synonym: "Elevated liver function tests" RELATED [] synonym: "Elevated serum transaminases" EXACT [] synonym: "Elevated transaminases" EXACT [] synonym: "Increased liver enzymes" EXACT [] synonym: "Increased liver function tests" EXACT [] synonym: "Increased transaminases" EXACT [] synonym: "Subclinical abnormal liver function tests" EXACT [] xref: UMLS:C0151766 "ABNORMAL LIVER FUNCTION TESTS" xref: UMLS:C0235996 "Elevated liver enzymes" xref: UMLS:C0877359 "Elevated liver function tests" xref: UMLS:C1863696 "Elevated serum transaminases" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0002912 name: Methylmalonic acidemia alt_id: HP:0003123 alt_id: HP:0008295 def: "Increased concentration of methylmalonic acid in the blood." [HPO:probinson] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. xref: UMLS:C1855119 "Methymalonicaciduria" is_a: HP:0001941 ! Acidosis is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism property_value: HP:0040005 "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002913 name: Myoglobinuria def: "Presence of myoglobin in the urine." [HPO:probinson] comment: Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. xref: MeSH:D009212 "Myoglobinuria" xref: UMLS:C0027080 "Myoglobinuria" is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "Presence of `myoglobin` (CHEBI:7044) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002914 name: Hyperchloridura def: "An increased concentration of chloride in the urine." [HPO:probinson] synonym: "Increased urinary chloride" EXACT [] xref: UMLS:C1846352 "Increased urinary chloride" is_a: HP:0012600 ! Abnormal urine chloride concentration property_value: HP:0040005 "An increased concentration of `chloride` (CHEBI:17996) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002916 name: Abnormality of chromosome segregation def: "An abnormality of chromosome segregation." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology property_value: HP:0040005 "An abnormality of `chromosome segregation` (GO:0007059)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002917 name: Hypomagnesemia alt_id: HP:0003284 def: "An abnormally decreased magnesium concentration in the blood." [HPO:probinson] xref: UMLS:C0151723 "HYPOMAGNESAEMIA" xref: UMLS:C1866499 "Occasional hypomagnesemia" is_a: HP:0004921 ! Abnormality of magnesium homeostasis property_value: HP:0040005 "An abnormally decreased `magnesium` (CHEBI:18420) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002918 name: Hypermagnesemia def: "An abnormally increased magnesium concentration in the blood." [HPO:probinson] xref: UMLS:C1522135 "Hypermagnesemia" is_a: HP:0004921 ! Abnormality of magnesium homeostasis property_value: HP:0040005 "An abnormally increased `magnesium` (CHEBI:18420) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002919 name: Ketonuria def: "High levels of ketone bodies in the urine." [HPO:probinson] comment: Acetone is the main component of the ketone bodies. synonym: "Acetonuria" RELATED [] synonym: "KETOACIDURIA" RELATED [HPO:skoehler] synonym: "Ketonaciduria" EXACT [] xref: UMLS:C0162275 "Ketonuria" is_a: HP:0012072 ! Aciduria [Term] id: HP:0002920 name: Decreased circulating ACTH level def: "An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson] xref: UMLS:C1968856 "Decreased serum ACTH" is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level property_value: HP:0040005 "An `abnormal` (PATO:0000460) reduction in the `concentration` (PATO:0000033) of `corticotropin` (CHEBI:3892), also known as adrenocorticotropic hormone (ACTH), in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002921 name: Abnormality of the cerebrospinal fluid def: "An abnormality of the cerebrospinal fluid (CSF)." [HPO:probinson] comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). synonym: "Abnormal CSF findings" EXACT [] synonym: "Abnormality of the CSF" EXACT [] is_a: HP:0002011 ! Morphological abnormality of the central nervous system property_value: HP:0040005 "An abnormality of the `cerebrospinal fluid (CSF)` (FMA:20935)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002922 name: Increased CSF protein def: "Increased concentration of protein in the cerebrospinal fluid." [KI:phemming] synonym: "Cerebrospinal fluid protein increased" EXACT [] synonym: "Cerebrospinal fluid with increased protein" EXACT [] synonym: "Elevated cerebrospinal fluid protein" EXACT [] synonym: "Elevated csf protein" EXACT [] synonym: "Increased protein in csf" EXACT [] synonym: "Spinal fluid protein elevated" EXACT [] xref: UMLS:C1806780 "Increased CSF protein" is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0002923 name: Rheumatoid factor positive def: "The presence in the serum of an autoantibody directed against the Fc portion of IgG." [HPO:probinson] xref: MeSH:D012217 "Rheumatoid Factor" xref: UMLS:C0151379 "Rheumatoid factor positive" is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0002924 name: Decreased circulating aldosterone level def: "A decreased level of aldosterone in the blood." [HPO:probinson] synonym: "Decreased aldosterone" EXACT [] synonym: "Decreased serum aldosterone" EXACT [] xref: UMLS:C0857899 "Decreased serum aldosterone" is_a: HP:0040085 ! Abnormal circulating aldosterone property_value: HP:0040005 "A decreased level of `aldosterone` (CHEBI:27584) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002925 name: Thyroid-stimulating hormone excess def: "Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland." [DDD:spark] synonym: "Elevated thyroid stimulating hormone" EXACT [] synonym: "Elevated thyroid stimulating hormone levels" EXACT [] synonym: "High TSH" EXACT [] synonym: "Increased serum thyroid-stimulating hormone" EXACT [] synonym: "Increased thyroid-stimulating hormone" EXACT [] synonym: "TSH excess" EXACT [] is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0002926 name: Abnormality of thyroid physiology def: "An abnormal functionality of the thyroid gland." [HPO:probinson] synonym: "Abnormal thyroid function" EXACT [HPO:skoehler] is_a: HP:0000820 ! Abnormality of the thyroid gland property_value: HP:0040005 "An abnormal `functionality` (PATO:0001509) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002927 name: Histidinuria alt_id: HP:0010905 def: "An increased concentration of histidine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours. xref: UMLS:C0268642 "Histidinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010904 ! Abnormality of histidine metabolism property_value: HP:0040005 "An increased concentration of `histidine` (CHEBI:27570) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson", xref="pmid:18901181", xref="pmid:20240447"} [Term] id: HP:0002928 name: Decreased activity of the pyruvate dehydrogenase (PDH) complex synonym: "Pyruvate dehydrogenase complex deficiency" EXACT [] xref: UMLS:C0034345 "Pyruvate dehydrogenase complex deficiency" is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0002929 name: Leydig cell insensitivity to gonadotropin is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0002930 name: Thyroid hormone receptor defect alt_id: HP:0008215 alt_id: HP:0008243 alt_id: HP:0008262 def: "Thyroid hormone resistance because of a defect in the thyroid hormone receptor." [DDD:spark] synonym: "End-organ unresponsiveness to thyroid hormone" EXACT [] synonym: "Resistance to thyroid hormone" EXACT [] synonym: "Thyroid hormone resistance" EXACT [] xref: UMLS:C0242604 "Thyroid Hormone Resistance" is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0002932 name: Aldehyde oxidase deficiency def: "A reduction in aldehyde oxidase activity." [HPO:probinson] comment: Aldehyde oxidase generates carboxylic acids from aldehydes. is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism property_value: HP:0040005 "A reduction in `aldehyde oxidase activity` (GO:0004031)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002933 name: Ventral hernia def: "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abnominal wall." [HPO:probinson] xref: MeSH:D006555 "Hernia, Ventral" xref: UMLS:C0019326 "Ventral Hernia" is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0002936 name: Distal sensory impairment alt_id: HP:0003476 alt_id: HP:0006843 alt_id: HP:0006845 alt_id: HP:0006922 alt_id: HP:0006971 alt_id: HP:0006993 alt_id: HP:0007138 alt_id: HP:0007292 alt_id: HP:0007296 def: "An abnormal reduction in sensation in the distal portions of the extremities." [HPO:probinson] synonym: "Decreased distal sensation" EXACT [] synonym: "Distal sensation loss" EXACT [] synonym: "Distal sensory impairment in lower limbs" EXACT [] synonym: "Distal sensory impairment of the lower extremities" EXACT [] synonym: "Distal sensory loss" EXACT [] synonym: "Distal sensory loss, upper and lower limbs" EXACT [] synonym: "Loss of distal sensation" EXACT [] xref: UMLS:C1836340 "Distal sensory impairment" is_a: HP:0003474 ! Sensory impairment [Term] id: HP:0002937 name: Hemivertebrae def: "Absence of one half of the vertebral body." [HPO:probinson] comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. subset: hposlim_core synonym: "Hemivertebra" EXACT [] xref: SNOMEDCT:68359008 "Congenital hemivertebra" xref: UMLS:C0265677 "Hemivertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0002938 name: Lumbar hyperlordosis alt_id: HP:0002941 alt_id: HP:0004560 alt_id: HP:0004574 alt_id: HP:0004596 def: "An abnormal accentuation of the inward curvature of the spine in the lumbar region." [HPO:probinson] synonym: "Exaggerated lumbar lordosis" EXACT [] synonym: "Increased lumbar lordosis" EXACT [] synonym: "Lumbar lordosis" EXACT [] synonym: "Prominent lumbar lordosis" EXACT [] xref: UMLS:C1836585 "Lumbar hyperlordosis" is_a: HP:0003307 ! Hyperlordosis [Term] id: HP:0002942 name: Thoracic kyphosis def: "Over curvature of the thoracic region, leading to a round back or if sever to a hump." [HPO:probinson] synonym: "Accentuated thoracic kyphosis" EXACT [] synonym: "Exaggerated thoracic kyphosis" EXACT [] xref: UMLS:C1184919 "Thoracic kyphosis" is_a: HP:0002808 ! Kyphosis is_a: HP:0100711 ! Abnormality of the thoracic spine [Term] id: HP:0002943 name: Thoracic scoliosis alt_id: HP:0004615 xref: UMLS:C1857790 "Thoracic scoliosis" is_a: HP:0002650 ! Scoliosis is_a: HP:0100711 ! Abnormality of the thoracic spine [Term] id: HP:0002944 name: Thoracolumbar scoliosis alt_id: HP:0004567 alt_id: HP:0004585 synonym: "Scoliosis, thoracolumbar" EXACT [] xref: UMLS:C0749379 "Thoracolumbar scoliosis" is_a: HP:0002650 ! Scoliosis [Term] id: HP:0002945 name: Intervertebral space narrowing def: "Decreased height of the intervertebral disk." [HPO:probinson] comment: A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination. synonym: "Narrow intervertebral disc spaces" EXACT [] synonym: "Narrow intervertebral spaces" EXACT [] is_a: HP:0005108 ! Abnormality of the intervertebral disk property_value: HP:0040005 "`Decreased height` (PATO:0000569) of the `intervertebral disk` (FMA:10446)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002946 name: Supernumerary vertebrae xref: UMLS:C0265681 "Supernumerary vertebrae" is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0002947 name: Cervical kyphosis def: "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [HPO:probinson] xref: SNOMEDCT:298393001 "Kyphosis deformity of cervical spine" xref: UMLS:C0575170 "Cervical kyphosis" is_a: HP:0002808 ! Kyphosis is_a: HP:0005905 ! Abnormal cervical curvature [Term] id: HP:0002948 name: Vertebral fusion alt_id: HP:0002807 alt_id: HP:0008471 alt_id: HP:0008485 def: "A developmental defect leading to the union of two adjacent vertebrae." [HPO:probinson] subset: hposlim_core synonym: "Fused vertebrae" EXACT [] synonym: "Fusion of vertebral bodies" EXACT [] synonym: "Spinal fusion" EXACT [] synonym: "Vertebral body fusion" EXACT [] xref: MeSH:D013123 "Spinal Fusion" xref: UMLS:C1851715 "Vertebral fusion" is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0002949 name: Fused cervical vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another." [] synonym: "Cervical vertebral fusion" EXACT [] synonym: "Fusion of cervical vertebrae" EXACT [] xref: UMLS:C0022738 "CERVICAL VERTEBRA FUSION" xref: UMLS:C1846468 "Fused cervical vertebrae" is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0002951 name: Partial absence of cerebellar vermis def: "Congenital absence of a part of the vermis of cerebellum." [HPO:probinson] is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis property_value: HP:0040005 "Congenital absence of a part of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002953 name: Vertebral compression fractures synonym: "Fractures of vertebral bodies" EXACT [] synonym: "Vertebral body compression" EXACT [] synonym: "Vertebral collapse" EXACT [] synonym: "Vertebral compression" EXACT [] synonym: "Vertebral compression or collapse" EXACT [] xref: UMLS:C1853165 "Vertebral compression fractures" is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0002955 name: Granulomatosis def: "Formation of multiple granulomas, i.e., localized nodular foci inflammation." [HPO:probinson, pmid:937513] comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). is_a: HP:0004311 ! Abnormality of macrophages [Term] id: HP:0002958 name: Immune dysregulation xref: UMLS:C1844666 "Immune dysregulation" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002959 name: Impaired Ig class switch recombination def: "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE." [HPO:probinson, pmid:11544001] comment: The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. synonym: "Impaired B-lymphocyte isotype switching" EXACT [] synonym: "Impaired Ig class-switch recombination (CSR)" EXACT [] is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002960 name: Autoimmunity def: "The occurrence of an immune reaction against the organism's own cells or tissues." [HPO:probinson] synonym: "Autoimmune disease" EXACT [] synonym: "Autoimmune disorders" EXACT [] xref: MeSH:D015551 "Autoimmunity" xref: UMLS:C0004364 "Autoimmune disease" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002961 name: Dysgammaglobulinemia def: "Selective deficiency of one or more, but not all, classes of immunoglobulins." [HPO:probinson] xref: MeSH:D004406 "Dysgammaglobulinemia" xref: UMLS:C0013374 "Dysgammaglobulinaemia" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002963 name: Abnormal delayed hypersensitivity skin test def: "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter." [HPO:probinson] comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance. xref: UMLS:C1833172 "Abnormal delayed hypersensitivity skin test" is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0002965 name: Cutaneous anergy alt_id: HP:0005427 def: "Inability to react to a delayed hypersensitivity skin test." [HPO:probinson] comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. synonym: "Absence of delayed hypersensitivity skin test" EXACT [] synonym: "Lack of delayed skin hypersensitivity reaction" EXACT [] is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002967 name: Cubitus valgus def: "Abnormal positioning in which the elbows are turned out." [HPO:probinson] subset: hposlim_core xref: UMLS:C0265611 "Cubitus valgus" is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002970 name: Genu varum alt_id: HP:0003052 def: "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [HPO:probinson] subset: hposlim_core synonym: "Bow legs" EXACT [] synonym: "Bow-leggedness" EXACT [] synonym: "Genu vara" EXACT [] synonym: "Genua vara" EXACT [] xref: MeSH:D056305 "Genu varum" xref: SNOMEDCT:299331007 "Knee joint - varus deformity" xref: UMLS:C0544755 "Genu varum" xref: UMLS:C1836312 "Genua vara" is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002971 name: Absent microvilli on the surface of peripheral blood lymphocytes is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002972 name: Reduced delayed hypersensitivity alt_id: HP:0005434 def: "Decreased ability to react to a delayed hypersensitivity skin test." [HPO:probinson] synonym: "Decreased reactivity to skin test antigens" EXACT [] synonym: "Deficiency of delayed skin hypersensitivity" EXACT [] synonym: "Impaired delayed hypersensitivity" EXACT [] is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002973 name: Abnormality of the forearm def: "An abnormality of the lower arm." [HPO:probinson] subset: hposlim_core is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0002974 name: Radioulnar synostosis alt_id: HP:0003962 def: "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:probinson] subset: hposlim_core synonym: "Fused forearm bones" EXACT [] xref: MEDRA:10037798 "Radioulnar synostosis" xref: SNOMEDCT:33313004 "Radioulnar synostosis" xref: UMLS:C0158761 "Radioulnar synostosis" is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0002977 name: Aplasia/Hypoplasia involving the central nervous system alt_id: HP:0001323 def: "Absence or underdevelopment of tissue in the central nervous system." [HPO:probinson] is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2008-03-31T05:13:00Z [Term] id: HP:0002979 name: Bowing of the legs alt_id: HP:0006428 def: "A bending or abnormal curvature affecting a long bone of the leg." [HPO:probinson] synonym: "Bowed legs" EXACT [] synonym: "Bowed lower limbs" EXACT [] is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0006487 ! Bowing of the long bones property_value: HP:0040005 "A bending or abnormal curvature affecting a `long bone` (FMA:7474) of the leg." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002980 name: Femoral bowing alt_id: HP:0004998 def: "Bowing (abnormal curvature) of the femur." [HPO:probinson] subset: hposlim_core synonym: "Bowed femur" EXACT [] synonym: "Bowed femura" EXACT [HPO:skoehler] synonym: "Bowed femurs" EXACT [HPO:skoehler] xref: UMLS:C1837080 "Femoral bowing" is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0002979 ! Bowing of the legs is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "Bowing (abnormal curvature) of the `femur` (FMA:9611)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002981 name: Abnormality of the calf def: "An abnormality of the calf, i.e. of the posterior part of the lower leg." [HPO:probinson] is_a: HP:0002814 ! Abnormality of the lower limb property_value: HP:0040005 "An abnormality of the `calf` (FMA:24984), i.e. of the posterior part of the lower leg." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002982 name: Tibial bowing alt_id: HP:0006363 def: "A bending or abnormal curvature of the tibia." [HPO:probinson] comment: A developmental defect with posteromedial tibial angulation. subset: hposlim_core synonym: "Bowed tibia" EXACT [] synonym: "Bowing of the tibia" EXACT [] xref: UMLS:C1837081 "Tibial bowing" is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "A bending or abnormal curvature of the `tibia` (FMA:24476)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002983 name: Micromelia alt_id: HP:0003030 alt_id: HP:0005753 def: "The presence of abnormally small extremities." [HPO:probinson] subset: hposlim_core xref: MEDRA:10027546 "Micromelia" xref: SNOMEDCT:74370006 "Micromelia" xref: UMLS:C0025995 "Micromelia" is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0002984 name: Hypoplasia of the radius alt_id: HP:0002995 alt_id: HP:0004989 alt_id: HP:0005014 alt_id: HP:0005081 alt_id: HP:0005714 alt_id: HP:0006418 def: "Underdevelopment of the radius." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic radii" EXACT [] synonym: "Hypoplastic radius" EXACT [] synonym: "Radial hypoplasia" EXACT [] synonym: "Radial ray hypoplasia" RELATED [] synonym: "Short radii" EXACT [] synonym: "Short radius" EXACT [] synonym: "Shortening of radius" EXACT [] xref: SNOMEDCT:205170001 "Hypoplasia of radius" xref: UMLS:C0685381 "Congenital hypoplasia of radius" xref: UMLS:C1401779 "Short radii" xref: UMLS:C1840087 "Radial ray hypoplasia" is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009821 ! Forearm undergrowth is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0002986 name: Radial bowing alt_id: HP:0004996 def: "A bending or abnormal curvature of the radius." [HPO:probinson] subset: hposlim_core synonym: "Bowed radii" EXACT [] synonym: "Bowed radius" EXACT [] xref: UMLS:C1865846 "Radial bowing" is_a: HP:0003956 ! Bowed forearm bones is_a: HP:0045008 ! Abnormal shape of the radius property_value: HP:0040005 "A bending or abnormal curvature of the `radius` (:FMA:23463)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0002987 name: Elbow flexion contracture alt_id: HP:0003937 alt_id: HP:0004984 alt_id: HP:0005654 def: "A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow." [HPO:probinson] synonym: "Contractures of elbows" EXACT [] synonym: "Contractures of the elbows" EXACT [] synonym: "Elbow contracture" EXACT [] synonym: "Elbow contractures" EXACT [] synonym: "Elbow flexion contractures" EXACT [] synonym: "Elbow flexion deformity" EXACT [] xref: UMLS:C0409338 "Elbow flexion contractures" is_a: HP:0002996 ! Limited elbow movement is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0002990 name: Fibular aplasia alt_id: HP:0006373 def: "Absence of the fibula." [HPO:probinson] subset: hposlim_core synonym: "Absent fibulae" EXACT [] synonym: "Absent-hypoplastic fibulae" EXACT [] xref: MEDRA:10054882 "Fibula agenesis" xref: SNOMEDCT:74245009 "Congenital absence of fibula" xref: UMLS:C0265635 "Congenital absence of fibula" xref: UMLS:C1836186 "Fibular aplasia" is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0002991 name: Abnormality of the fibula def: "An anomaly of the calf bone (fibula), one of the two bones of the calf." [HPO:probinson] subset: hposlim_core is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040069 ! Abnormality of lower limb bone [Term] id: HP:0002992 name: Abnormality of the tibia def: "Abnormality of the tibia (shinbone)." [HPO:curators] is_a: HP:0002981 ! Abnormality of the calf is_a: HP:0040069 ! Abnormality of lower limb bone [Term] id: HP:0002996 name: Limited elbow movement alt_id: HP:0006395 synonym: "Decreased elbow mobility" EXACT [] synonym: "Limited elbow mobility" EXACT [] synonym: "Restricted elbow motion" EXACT [] xref: UMLS:C1846014 "Limited elbow movement" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002997 name: Abnormality of the ulna def: "An abnormality of the ulna bone of the forearm." [HPO:probinson] subset: hposlim_core is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0002999 name: Patellar dislocation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:probinson] synonym: "Dislocated patellae" EXACT [] synonym: "Dislocation of patella" EXACT [] xref: MeSH:D031222 "Patellar Dislocation" xref: UMLS:C1135812 "Patellar Dislocation" is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0003001 name: Glomus jugular tumor synonym: "Glomus jugulare tumor" EXACT [] synonym: "Glomus jugulare tumors" EXACT [] xref: MeSH:D005925 "Glomus Jugulare Tumor" xref: UMLS:C1854342 "Glomus jugular tumors" is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0003002 name: Breast carcinoma def: "The presence of a carcinoma of the breast." [HPO:probinson] synonym: "Breast cancer" EXACT [] xref: UMLS:C0006142 "Breast Cancer" is_a: HP:0100013 ! Neoplasm of the breast property_value: HP:0040005 "The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003003 name: Colon cancer alt_id: HP:0006718 xref: UMLS:C0007102 "colon cancer" is_a: HP:0100273 ! Neoplasm of the colon [Term] id: HP:0003005 name: Ganglioneuroma def: "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." [HPO:probinson] comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. xref: MeSH:D005729 "Ganglioneuroma" xref: UMLS:C0017075 "Ganglioneuroma" is_a: HP:0004376 ! Neuroblastic tumors [Term] id: HP:0003006 name: Neuroblastoma alt_id: HP:0006738 def: "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:probinson] xref: MeSH:D009447 "Neuroblastoma" xref: UMLS:C0700095 "Neuroblastoma" is_a: HP:0004376 ! Neuroblastic tumors is_a: HP:0030067 ! Peripheral primitive neuroectodermal neoplasm [Term] id: HP:0003009 name: Enhanced neurotoxicity of vincristine is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003010 name: Prolonged bleeding time alt_id: HP:0008294 alt_id: HP:0008337 def: "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [DDD:mumford] comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. synonym: "Increased bleeding time" EXACT [] xref: UMLS:C0151529 "Bleeding time prolonged" is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0003011 name: Abnormality of the musculature alt_id: HP:0003197 alt_id: HP:0003708 def: "Abnormality originating in one or more muscles, i.e., of the set of muscles of body." [HPO:probinson] synonym: "Muscular abnormality" EXACT [] xref: UMLS:C1843699 "Merosin-positive biopsy" is_a: HP:0000118 ! Phenotypic abnormality property_value: HP:0040005 "Abnormality originating in one or more muscles, i.e., of the `set of muscles of body` (FMA:72954)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003013 name: Bulging epiphyses def: "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [HPO:probinson] xref: UMLS:C1833329 "'Bulging' epiphyses" is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003015 name: Flared metaphyses alt_id: HP:0003047 alt_id: HP:0004994 alt_id: HP:0005015 alt_id: HP:0005095 alt_id: HP:0200002 def: "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:probinson, pmid:12853662] comment: Figure 11 of pmid:12853662 shows metaphyseal flaring. synonym: "Flared, widened metaphyses" EXACT [] synonym: "marked metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal flaring" EXACT [] synonym: "Metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal splaying" EXACT [] synonym: "Splayed metaphyses" EXACT [] xref: UMLS:C1850135 "Splayed metaphyses" xref: UMLS:C1859139 "Metaphyseal splaying" is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0003016 name: Metaphyseal widening alt_id: HP:0005074 def: "Abnormal widening of the metaphyseal regions of long bones." [HPO:probinson] synonym: "Wide metaphyses" EXACT [] synonym: "Widened long bone metaphyses" EXACT [] synonym: "Widened metaphyses" EXACT [] xref: UMLS:C1855248 "Metaphyseal widening" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003019 name: Abnormality of the wrist alt_id: HP:0001224 def: "Abnormality of the wrist, the structure connecting the hand and the forearm." [HPO:probinson] subset: hposlim_core synonym: "Abnormalities of the wrists" EXACT [] is_a: HP:0009810 ! Abnormality of upper limb joint [Term] id: HP:0003020 name: Enlargement of the wrists is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003021 name: Metaphyseal cupping def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:probinson] xref: UMLS:C1837082 "Metaphyseal cupping" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003022 name: Hypoplasia of the ulna alt_id: HP:0002998 alt_id: HP:0005842 alt_id: HP:0006388 alt_id: HP:0006444 def: "Underdevelopment of the ulna." [HPO:curators] subset: hposlim_core synonym: "Hypoplastic ulna" EXACT [] synonym: "Short ulna" EXACT [] synonym: "Short ulnae" EXACT [] synonym: "Ulnar hypoplasia" EXACT [] xref: SNOMEDCT:93300007 "Congenital hypoplasia of ulna" xref: UMLS:C0685391 "Congenital hypoplasia of ulna" xref: UMLS:C1860614 "ULNAR HYPOPLASIA" is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna is_a: HP:0009821 ! Forearm undergrowth is_a: HP:0040071 ! Abnormal morphology of ulna property_value: HP:0040005 "Underdevelopment of the `ulna` (FMA:23466)." xsd:string {xref="HPO:curators"} [Term] id: HP:0003023 name: Bowing of limbs due to multiple fractures def: "Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators] synonym: "Bowed limbs due to multiple fractures" EXACT [] is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0003025 name: Metaphyseal irregularity alt_id: HP:0003017 alt_id: HP:0004995 alt_id: HP:0005016 alt_id: HP:0005032 alt_id: HP:0005038 alt_id: HP:0005058 alt_id: HP:0005062 alt_id: HP:0005065 alt_id: HP:0005078 alt_id: HP:0005896 def: "Irregularity of the normally smooth surface of the metaphyses." [HPO:probinson] synonym: "Frayed, irregular metaphyses" EXACT [] synonym: "Frayed, irregular, metaphyses" EXACT [] synonym: "Irregular metaphyses" EXACT [] synonym: "Metaphyseal fraying" EXACT [] synonym: "Metaphyseal irregularities" EXACT [] xref: UMLS:C1846448 "Irregular metaphyses" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003026 name: Short long bones alt_id: HP:0000949 alt_id: HP:0004983 alt_id: HP:0004988 alt_id: HP:0005000 alt_id: HP:0005029 alt_id: HP:0005044 alt_id: HP:0005052 alt_id: HP:0005077 alt_id: HP:0005083 alt_id: HP:0005647 alt_id: HP:0005822 alt_id: HP:0006382 alt_id: HP:0006457 alt_id: HP:0006472 def: "One or more abnormally short long bone." [HPO:probinson] comment: Long bones are also known as tubular bones. synonym: "Long bone shortening" EXACT [] synonym: "Short tubular bones" EXACT [] synonym: "shortened long tubular bones" EXACT [] xref: UMLS:C1854912 "Short long bones" xref: UMLS:C1856470 "Shortened long tubular bones" is_a: HP:0011314 ! Abnormality of long bone morphology property_value: HP:0040005 "One or more abnormally short `long bone` (FMA:7474)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003027 name: Mesomelia def: "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] comment: Shortening of the limbs where the predominant shortness is in the middle bones. synonym: "Mesomelic limb shortening" EXACT [] synonym: "Mesomelic shortening of limbs" EXACT [] synonym: "Symmetric mesomelic limb shortness" EXACT [] xref: UMLS:C0549306 "Mesomelia" is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0003028 name: Abnormality of the ankles subset: hposlim_core is_a: HP:0100491 ! Abnormality of lower limb joint [Term] id: HP:0003029 name: Enlargement of the ankles is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0003031 name: Ulnar bowing alt_id: HP:0003983 def: "Bending of the diaphysis (shaft) of the ulna." [HPO:probinson] comment: Ulnar bowing is usually in the convex posterior direction. subset: hposlim_core synonym: "Bowed ulna" EXACT [] synonym: "Curved ulna" EXACT [] xref: UMLS:C1865847 "Ulnar bowing" is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003956 ! Bowed forearm bones property_value: HP:0040005 "Bending of the diaphysis (shaft) of the `ulna`(FMA:23466)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003034 name: Diaphyseal sclerosis alt_id: HP:0005611 def: "An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Craniodiaphyseal osteosclerosis" EXACT [] synonym: "Diaphyseal osteosclerosis" EXACT [] xref: UMLS:C0011989 "Diaphyseal sclerosis" xref: UMLS:C0029464 "Osteosclerosis" is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0006392 ! Increased density of long bones is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0003037 name: Enlarged joints def: "Increase in size of one or more joints." [HPO:probinson] subset: hposlim_core xref: UMLS:C1859111 "Enlarged Joints" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003038 name: Fibular hypoplasia alt_id: HP:0002985 alt_id: HP:0005887 alt_id: HP:0006401 def: "Underdevelopment of the fibula." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic fibula" EXACT [] synonym: "Short fibula" EXACT [] synonym: "Short fibulae" EXACT [] xref: SNOMEDCT:93256009 "Congenital hypoplasia of fibula" xref: UMLS:C0685428 "Congenital hypoplasia of fibula" xref: UMLS:C1837833 "Fibular hypoplasia" is_a: HP:0003026 ! Short long bones is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0003040 name: Arthropathy xref: UMLS:C0022408 "Arthropathy" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003041 name: Humeroradial synostosis alt_id: HP:0003936 def: "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:sdoelken] synonym: "Humeral radial synostosis" EXACT [] synonym: "Humeral-radial synostosis" EXACT [] synonym: "Radiohumeral synostosis of elbow" EXACT [] synonym: "Synostosis of radius and humerus" EXACT [] xref: UMLS:C1835477 "Humeral-radial synostosis" is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003042 name: Elbow dislocation alt_id: HP:0006411 def: "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet." [HPO:probinson] synonym: "Dislocations of the elbows" EXACT [] synonym: "Elbow dislocations" EXACT [] synonym: "Radiocapitellar dislocation" EXACT [] synonym: "Radiohumeral dislocation" EXACT [] synonym: "Ulnohumeral dislocation" EXACT [] xref: UMLS:C0149977 "ELBOW DISLOCATION" xref: UMLS:C1403299 "Radiohumeral dislocation" is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003043 name: Abnormality of the shoulder def: "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:probinson] subset: hposlim_core is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0003044 name: Shoulder flexion contracture def: "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] xref: UMLS:C1848475 "Shoulder contractures" is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0003045 name: Abnormality of the patella def: "Abnormality of the patella (knee cap)." [HPO:probinson] subset: hposlim_core synonym: "Patellar abnormality" EXACT [] is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003048 name: Radial head subluxation def: "Partial dislocation of the head of the radius." [HPO:curators] synonym: "Radial subluxation" EXACT [] synonym: "Radial-head subluxation" EXACT [] xref: UMLS:C1840308 "Radial subluxation" is_a: HP:0003042 ! Elbow dislocation [Term] id: HP:0003049 name: Ulnar deviation of the wrist synonym: "Ulnar deviation of wrists" EXACT [] is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003051 name: Enlarged metaphyses alt_id: HP:0005018 def: "Abnormal increase in size of one or more metaphyses." [HPO:probinson] xref: UMLS:C1855544 "Enlarged metaphyses" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003053 name: Epiphyseal deformities of tubular bones is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003057 name: Tetraamelia def: "Amelia of all four limbs." [HPO:sdoelken] synonym: "Tetra-amelia" EXACT [HPO:sdoelken] xref: UMLS:C1848875 "Tetra-amelia" is_a: HP:0009827 ! Amelia property_value: HP:0040005 "`Amelia` (HP:0009827) of all four limbs." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0003059 name: Abnormality of the radioulnar joints is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0003063 name: Abnormality of the humerus alt_id: HP:0002988 def: "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] synonym: "Abnormality of the humeri" EXACT [] is_a: HP:0001454 ! Abnormality of the upper arm is_a: HP:0040070 ! Abnormality of upper limb bone [Term] id: HP:0003065 name: Patellar hypoplasia alt_id: HP:0005020 def: "Underdevelopment of the patella." [HPO:curators] synonym: "Hypoplastic patellae" EXACT [] synonym: "Small patella" EXACT [] synonym: "Small patellae" EXACT [] xref: UMLS:C1868579 "Patellar hypoplasia" is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0003066 name: Limited knee extension xref: UMLS:C1844690 "Limited knee extension" is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003067 name: Madelung deformity def: "An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna." [HPO:probinson, pmid:12362035] subset: hposlim_core synonym: "Madelung wrist deformity" EXACT [] xref: SNOMEDCT:4530000 "Madelung's deformity" xref: UMLS:C0152441 "Madelung's deformity" is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003068 name: Madelung-like forearm deformities xref: UMLS:C0041784 "FOREARM DEFORMITY NOS" is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003070 name: Elbow ankylosis xref: UMLS:C0856459 "Elbow ankylosis" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003071 name: Flattened epiphyses alt_id: HP:0004982 alt_id: HP:0005051 alt_id: HP:0005076 alt_id: HP:0005080 def: "Abnormal flatness (decreased height) of epiphyses." [HPO:probinson] synonym: "Flat epiphyses" EXACT [] xref: UMLS:C1857527 "Flattened epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003072 name: Hypercalcemia def: "An abnormally increased calcium concentration in the blood." [HPO:curators] synonym: "Hypercalcaemia" EXACT [] xref: MeSH:D006934 "Hypercalcemia" xref: UMLS:C0020437 "HYPERCALCAEMIA" is_a: HP:0040077 ! Abnormal concentration of calcium in blood property_value: HP:0040005 "An abnormally increased `calcium` (CHEBI:29108) concentration in the blood." xsd:string {xref="HPO:curators"} [Term] id: HP:0003073 name: Hypoalbuminemia def: "Reduction in the concentration of albumin in the blood." [HPO:probinson] synonym: "Hypoalbuminaemia" EXACT [] xref: MeSH:D034141 "Hypoalbuminemia" xref: UMLS:C0239981 "Hypoalbuminaemia" is_a: HP:0012116 ! Abnormal albumin level property_value: HP:0040005 "Reduction in the concentration of `albumin` (PR:000003918) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003074 name: Hyperglycemia def: "An increased concentration of glucose in the blood." [HPO:probinson] xref: MeSH:D006943 "Hyperglycemia" xref: UMLS:C0020456 "Hyperglycemia" is_a: HP:0011015 ! Abnormality of blood glucose concentration property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003075 name: Hypoproteinemia def: "A decreased concentration of protein in the blood." [HPO:gcarletti] xref: MeSH:D007019 "Hypoproteinemia" xref: UMLS:C0020639 "Hypoproteinemia" is_a: HP:0010876 ! Abnormality of circulating protein level property_value: HP:0040005 "A `decreased concentration` (PATO:0001163) of `protein` (CHEBI:36080) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003076 name: Glycosuria alt_id: HP:0003122 def: "An increased concentration of glucose in the urine." [HPO:gcarletti] comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. synonym: "Glucosuria" EXACT [] xref: MeSH:D006029 "Glycosuria" xref: UMLS:C0017979 "Glucosuria" is_a: HP:0011016 ! Abnormality of urine glucose concentration property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003077 name: Hyperlipidemia alt_id: HP:0008159 def: "An elevated lipid concentration in the blood." [HPO:probinson] comment: Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). xref: MeSH:D006949 "Hyperlipidemias" xref: UMLS:C0020473 "Hyperlipidaemia" is_a: HP:0003119 ! Abnormality of lipid metabolism property_value: HP:0040005 "An elevated `lipid` (CHEBI:18059) concentration in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003079 name: Defective DNA repair after ultraviolet radiation damage is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003080 name: Hydroxyprolinuria def: "An increased concentration of 4-hydroxy-L-proline the urine." [HPO:gcarletti] synonym: "Elevated urinary hydroxyproline" EXACT [] xref: UMLS:C0948585 "Hydroxyprolinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010907 ! Abnormality of proline metabolism property_value: HP:0040005 "An increased concentration of `4-hydroxy-L-proline` (CHEBI:18240) the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003081 name: Increased urinary potassium def: "An increased concentration of potassium(1+) in the urine." [HPO:probinson] xref: UMLS:C1846351 "Increased urinary potassium" is_a: HP:0012598 ! Abnormal urine potassium concentration property_value: HP:0040005 "An increased concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003083 name: Dislocated radial head alt_id: HP:0002975 alt_id: HP:0005673 alt_id: HP:0005836 def: "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] synonym: "Congenital radial head dislocation" EXACT [] synonym: "DISLOCATED RADIAL HEADS" RELATED [HPO:skoehler] synonym: "Dislocated radius" EXACT [] synonym: "Dislocation of radial head" EXACT [] synonym: "Dislocation of the radial head" EXACT [] synonym: "Radial dislocation" EXACT [] synonym: "Radial head dislocation" EXACT [] synonym: "Radial head dislocation/subluxation" EXACT [] xref: UMLS:C1833143 "Dislocated radial head" is_a: HP:0003042 ! Elbow dislocation is_a: HP:0003995 ! Abnormality of the radial head is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003084 name: Fractures of the long bones alt_id: HP:0005847 def: "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)." [HPO:curators] synonym: "Increased long bone fracture rate" EXACT [] is_a: HP:0002757 ! Recurrent fractures is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003085 name: Long fibula def: "Disproportionately long fibulae." [HPO:probinson] subset: hposlim_core synonym: "Disproportionately long fibula" EXACT [] xref: UMLS:C1848109 "Disproportionately long fibulae" is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0003086 name: Acromesomelia def: "Small hands and feet." [HPO:probinson, pmid:22286749] xref: UMLS:C1864365 "Acromesomelia" is_a: HP:0003027 ! Mesomelia [Term] id: HP:0003088 name: Premature osteoarthritis synonym: "Premature arthritis" EXACT [] xref: UMLS:C1859110 "Premature osteoarthritis" is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0003089 name: Hamstring contractures xref: UMLS:C0410266 "Hamstring contractures" is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0003090 name: Hypoplasia of the capital femoral epiphysis alt_id: HP:0003374 alt_id: HP:0008791 alt_id: HP:0008792 def: "Underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Small capital femoral epiphyses" EXACT [] synonym: "Small femoral capital epiphyses" EXACT [] synonym: "Small proximal femoral epiphyses" EXACT [] xref: UMLS:C1846846 "Small proximal femoral epiphyses" is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis property_value: HP:0040005 "Underdevelopment of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003091 name: Trophic limb changes def: "Trophic changes occuring in a limb." [HPO:probinson] is_a: HP:0010834 ! Trophic changes related to pain property_value: HP:0040005 "`Trophic changes` (HP:0010834) occuring in a limb." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003093 name: Limited hip extension alt_id: HP:0008810 def: "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward." [HPO:probinson] comment: Reduced ability to straighten out the femur. synonym: "Restricted hip extension" EXACT [] is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003095 name: Septic arthritis xref: MeSH:D001170 "Arthritis, Infectious" xref: UMLS:C0003874 "Septic arthritis" is_a: HP:0001369 ! Arthritis [Term] id: HP:0003097 name: Short femur alt_id: HP:0009749 def: "An abnormal shortening of the femur." [HPO:probinson] subset: hposlim_core synonym: "Femoral hypoplasia" EXACT [] synonym: "Hypoplasia of the femora" EXACT [] synonym: "Short femurs" EXACT [] xref: SNOMEDCT:93255008 "Congenital hypoplasia of femur" xref: UMLS:C0345375 "Congenital hypoplasia of femur" xref: UMLS:C1397248 "Short femora" is_a: HP:0005613 ! Aplasia/hypoplasia of the femur is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "An abnormal shortening of the `femur` (FMA:9611)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003099 name: Fibular overgrowth def: "Relatively increased growth of the fibula compared to that of the tibia." [HPO:probinson, pmid:17259417] xref: UMLS:C1864298 "Fibular overgrowth" is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0003100 name: Slender long bone alt_id: HP:0003060 alt_id: HP:0003061 alt_id: HP:0003096 alt_id: HP:0005064 def: "Reduced diameter of a long bone." [HPO:probinson] synonym: "Gracile long bones" EXACT [] synonym: "Long bones slender" EXACT [] synonym: "SLENDER LONG BONES" RELATED [HPO:skoehler] synonym: "Slender, gracile long tubular bones" EXACT [] synonym: "Thin gracile long bones" RELATED [] synonym: "Thin long bones" EXACT [] synonym: "Thin, gracile long bones" EXACT [] xref: UMLS:C1856235 "Thin gracile long bones" xref: UMLS:C1865250 "Thin long bones" is_a: HP:0011314 ! Abnormality of long bone morphology property_value: HP:0040005 "Reduced diameter of a `long bone` (FMA:7474)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003102 name: Increased carrying angle def: "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm." [HPO:probinson, pmid:18506557] comment: Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003103 name: Abnormal cortical bone morphology def: "An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones." [HPO:sdoelken] synonym: "Abnormal compact bone morphology" EXACT [] synonym: "Abnormality of cortical bone" EXACT [] is_a: HP:0003330 ! Abnormal bone structure property_value: HP:0040005 "An abnormality of `compact bone` (FMA:24018) (also known as cortical bone), which forms the dense surface of bones." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0003105 name: Protuberances at ends of long bones def: "The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones." [HPO:probinson] is_a: HP:0011314 ! Abnormality of long bone morphology property_value: HP:0040005 "The presence of multiple protuberances (bulges, or knobs) at the ends of the `long bones` (FMA:7474)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003106 name: Subperiosteal erosions due to secondary hyperparathyroidism is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0003107 name: Abnormality of cholesterol metabolism is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2008-03-17T01:02:00Z [Term] id: HP:0003108 name: Hyperglycinuria alt_id: HP:0002931 def: "An increased concentration of glycine in the urine." [HPO:gcarletti, pmid:18901181, pmid:20240447] comment: Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours. synonym: "Glycinuria" EXACT [] xref: UMLS:C1853747 "Hyperglycinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010895 ! Abnormality of glycine metabolism property_value: HP:0040005 "An increased concentration of `glycine` (CHEBI:15428 ) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti", xref="pmid:18901181", xref="pmid:20240447"} [Term] id: HP:0003109 name: Hyperphosphaturia alt_id: HP:0003266 def: "An increased excretion of phosphates in the urine." [HPO:curators] synonym: "Phosphaturia" EXACT [] xref: UMLS:C0268079 "Hyperphosphaturia" is_a: HP:0012599 ! Abnormal urine phosphate concentration [Term] id: HP:0003110 name: Abnormality of urine homeostasis alt_id: HP:0011865 alt_id: HP:0011866 def: "An abnormality of the composition of urine or the levels of its components." [HPO:probinson] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0003111 name: Abnormality of ion homeostasis alt_id: HP:0003253 def: "Abnormality of the homeostasis (concentration) of a monoatomic ion." [HPO:probinson] synonym: "Electrolyte disorders" EXACT [] xref: UMLS:C1704431 "Electrolyte disorders" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "Abnormality of the homeostasis (concentration) of a `monoatomic ion` (CHEBI:24867)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003112 name: Abnormality of serum amino acid levels def: "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [HPO:curators] is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003113 name: Hypochloremia def: "An abnormally decreased chloride concentration in the blood." [HPO:probinson] xref: UMLS:C0085680 "HYPOCHLORAEMIA" is_a: HP:0011422 ! Abnormality of chloride homeostasis property_value: HP:0040005 "An abnormally decreased `chloride` (CHEBI:17996) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003114 name: obsolete Abnormal cardiological findings comment: Consider abnormality of the cardiovascular system, HP:0001626. is_obsolete: true replaced_by: HP:0001113 [Term] id: HP:0003115 name: Abnormal EKG xref: UMLS:C0522055 "Abnormal EKG" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0003116 name: Abnormal echocardiogram def: "An abnormality detectable by sonography of the heart (echocardiography)." [HPO:probinson] comment: Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627). synonym: "Abnormal echocardiography" EXACT [] xref: UMLS:C0476369 "Abnormal echocardiogram" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0003117 name: Abnormality of circulating hormone level def: "An abnormal concentration of a hormone in the blood." [HPO:probinson] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: HP:0040005 "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of a `hormone` (CHEBI:24621) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003118 name: Increased circulating cortisol level def: "Abnormally increased concentration of cortisol in the blood." [HPO:probinson] xref: UMLS:C0241003 "Increased serum cortisol" is_a: HP:0011731 ! Abnormality of circulating cortisol level property_value: HP:0040005 "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003119 name: Abnormality of lipid metabolism alt_id: HP:0003611 def: "An abnormality in the of lipid metabolism." [HPO:probinson] comment: According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. synonym: "Dyslipidemia" RELATED [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality in the of `lipid` (CHEBI:18059) metabolism." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003121 name: Limb joint contracture alt_id: HP:0005631 alt_id: HP:0005839 def: "A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [HPO:probinson] synonym: "Limb contractures" EXACT [] xref: UMLS:C1969879 "Limb contractures" is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0003124 name: Hypercholesterolemia alt_id: HP:0008154 alt_id: HP:0008173 alt_id: HP:0008359 def: "An increased concentration of cholesterol in the blood." [HPO:gcarletti] synonym: "Elevated serum cholesterol" EXACT [] synonym: "Elevated total cholesterol" EXACT [] synonym: "Increased total cholesterol" EXACT [] xref: MeSH:D006937 "Hypercholesterolemia" xref: UMLS:C1522133 "Hypercholesterolemia" is_a: HP:0003107 ! Abnormality of cholesterol metabolism property_value: HP:0040005 "An increased concentration of `cholesterol` (CHEBI:16113) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003125 name: Reduced factor VIII activity alt_id: HP:0008349 alt_id: HP:0008355 def: "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [HPO:probinson] synonym: "Factor VIII deficiency" RELATED [] xref: UMLS:C0019069 "Factor VIII Deficiency" is_a: HP:0010989 ! Abnormality of the intrinsic pathway property_value: HP:0040005 "Reduced activity of `coagulation factor VIII` (PR:000007302). Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003126 name: Low-molecular-weight proteinuria def: "Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD)." [pmid:95574] synonym: "Tubular proteinuria" EXACT [] xref: UMLS:C1839606 "Low-molecular-weight proteinuria" is_a: HP:0000093 ! Proteinuria [Term] id: HP:0003127 name: Hypocalciuria def: "An abnormally decreased calcium concentration in the urine (FMA:12274)." [HPO:probinson] xref: UMLS:C0020599 "Hypocalciuria" is_a: HP:0011280 ! Abnormality of urine calcium concentration property_value: HP:0040005 "An abnormally decreased `calcium` (CHEBI:29108) concentration in the urine (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003128 name: Lactic acidosis alt_id: HP:0003255 alt_id: HP:0005960 def: "An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids." [HPO:probinson] comment: Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. synonym: "Hyperlacticacidemia" EXACT [] synonym: "Lactic acidemia" EXACT [] synonym: "Lacticacidemia" EXACT [] synonym: "Lacticacidosis" EXACT [] xref: MeSH:D000140 "Acidosis, Lactic" xref: UMLS:C1855560 "Lacticacidemia" is_a: HP:0001941 ! Acidosis property_value: HP:0040005 "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood and other bodily fluids." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003130 name: Abnormal peripheral myelination alt_id: HP:0003408 def: "An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense." [DDD:fmunitoni, HPO:jbaets] comment: This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). xref: UMLS:C1843178 "Thin myelin sheaths" is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0003131 name: Cystinuria def: "An increased concentration of cystine in the urine." [HPO:gcarletti] comment: Cystine is a sulfur-containing amino acid. xref: MeSH:D003555 "Cystinuria" xref: UMLS:C0010691 "Cystinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010918 ! Abnormality of cysteine metabolism property_value: HP:0040005 "An increased concentration of `cystine` (CHEBI:17376) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003133 name: Abnormality of the spinocerebellar tracts def: "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract (FMA:72642), the anterior spinocerebellar tract (FMA:72642), and the posterior spinocerebellar tract (FMA:72641)." [HPO:probinson] is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0003134 name: Abnormality of peripheral nerve conduction alt_id: HP:0006832 alt_id: HP:0007186 def: "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)." [HPO:probinson] comment: A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. synonym: "Abnormal peripheral nerve transmission" RELATED [] synonym: "Sensory and motor nerve conduction abnormalities" EXACT [] is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0045010 ! Abnormality of peripheral nerves [Term] id: HP:0003137 name: Prolinuria def: "An increased concentration of proline in the urine." [HPO:probinson] comment: Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. xref: UMLS:C0268534 "Prolinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010907 ! Abnormality of proline metabolism property_value: HP:0040005 "An increased concentration of `proline` (CHEBI:26271) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003138 name: Increased blood urea nitrogen (BUN) def: "An increased amount of nitrogen in the form of urea in the blood." [HPO:gcarletti] synonym: "Increased blood urea nitrogen" EXACT [] xref: UMLS:C0151539 "Increased blood urea nitrogen" is_a: HP:0002157 ! Azotemia property_value: HP:0040005 "An increased amount of nitrogen in the form of `urea` (CHEBI:16199) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003139 name: Panhypogammaglobulinemia synonym: "Panypogammaglobulinemia" EXACT [] xref: UMLS:C1849243 "Panypogammaglobulinemia" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0003140 name: T-wave inversion in the right precordial leads is_a: HP:0010872 ! EKG: T-wave inversion [Term] id: HP:0003141 name: Hyperbetalipoproteinemia alt_id: HP:0008343 def: "An elevated concentration of low-density lipoprotein cholesterol in the blood." [HPO:probinson] synonym: "Increased beta-lipoproteins" EXACT [] synonym: "Increased circulating low-density lipoprotein cholesterol" EXACT [] synonym: "Increased LDL cholesterol" EXACT [] xref: UMLS:C0549399 "Increased LDL cholesterol" is_a: HP:0010980 ! Hyperlipoproteinemia property_value: HP:0040005 "An elevated concentration of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003142 name: Excessive purine production is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0003144 name: Increased serum serotonin def: "A increased concentration of serotonin in the blood." [HPO:probinson] is_a: HP:0003117 ! Abnormality of circulating hormone level property_value: HP:0040005 "A `increased concentration` (PATO:0001162) of `serotonin` (CHEBI:28790) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003145 name: Decreased adenosylcobalamin def: "Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12." [HPO:probinson] synonym: "Decreased adenosylcobalamin (ADOCBL)" EXACT [] is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism property_value: HP:0040005 "Decreased concentration of `adenosylcobalamin` (CHEBI:18408). Adenosylcobalamin is one of the active forms of vitamin B12." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003146 name: Hypocholesterolemia def: "An decreased concentration of cholesterol in the blood." [HPO:gcarletti] xref: UMLS:C0151718 "HYPOCHOLESTEROLAEMIA" is_a: HP:0003107 ! Abnormality of cholesterol metabolism property_value: HP:0040005 "An decreased concentration of `cholesterol` (CHEBI:16113) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003148 name: Elevated serum acid phosphatase comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. synonym: "Acid phosphatase elevated" EXACT [] xref: UMLS:C1839866 "Elevated serum acid phosphatase" is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003149 name: Hyperuricosuria def: "An abnormally high level of uric acid in the urine." [HPO:probinson] xref: UMLS:C0948643 "Hyperuricosuria" is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis property_value: HP:0040005 "An abnormally high level of `uric acid` (CHEBI:27226) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003150 name: Glutaric aciduria def: "An increased concentration of glutaric acid in the urine." [HPO:gcarletti] synonym: "Glutaricaciduria" EXACT [] xref: UMLS:C0268594 "Glutaric aciduria" is_a: HP:0003215 ! Dicarboxylic aciduria property_value: HP:0040005 "An increased concentration of `glutaric acid` (CHEBI:17859) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003152 name: Increased serum 1,25-dihydroxyvitamin D3 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003153 name: Cystathioninuria def: "An elevated urinary concentration of cystathionine." [HPO:probinson] comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. xref: UMLS:C0220993 "Cystathioninuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism property_value: HP:0040005 "An elevated urinary concentration of `cystathionine` (CHEBI:17755)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003154 name: Increased circulating ACTH level def: "An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood." [HPO:probinson] synonym: "Increased plasma acth" EXACT [] xref: UMLS:C1846285 "Elevated plasma ACTH" is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level property_value: HP:0040005 "An `abnormal` (PATO:0000460) increased in the `concentration` (PATO:0000033) of `corticotropin` (CHEBI:3892), also known as adrenocorticotropic hormone (ACTH), in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003155 name: Elevated alkaline phosphatase alt_id: HP:0002911 alt_id: HP:0003636 alt_id: HP:0008296 def: "Abnormally increased serum levels of alkaline phosphatase activity." [HPO:probinson] synonym: "Greatly elevated alkaline phosphatase" EXACT [] synonym: "High serum alkaline phosphatase" EXACT [] synonym: "Hyperphosphatasia" EXACT [HPO:curators] synonym: "Increased alkaline phosphatase" EXACT [] synonym: "Increased serum alkaline phosphatase" EXACT [] xref: UMLS:C0151849 "Elevated alkaline phosphatase" is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity property_value: HP:0040005 "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003158 name: Hyposthenuria def: "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [HPO:probinson] comment: Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. synonym: "Reduced urinary osmolality" EXACT [] xref: UMLS:C0232831 "Hyposthenuria" is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003159 name: Hyperoxaluria def: "Increased excretion of oxalates in the urine." [HPO:probinson] xref: MeSH:D006959 "Hyperoxaluria" xref: UMLS:C0020500 "Hyperoxaluria" is_a: HP:0001992 ! Organic aciduria [Term] id: HP:0003160 name: Abnormal isoelectric focusing of serum transferrin def: "Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded." [HPO:probinson, pmid:22516080] comment: Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin. synonym: "Abnormal isoelectric focusing of serum transferring" EXACT [] synonym: "Abnormal transferrin isoelectric focusing" EXACT [] is_a: HP:0012347 ! Abnormal protein N-linked glycosylation [Term] id: HP:0003161 name: 4-Hydroxyphenylpyruvic aciduria def: "Increased concentration of pyruvic acid in the urine." [HPO:probinson] synonym: "Hydroxyphenylpyruvic aciduria" EXACT [] xref: UMLS:C0278026 "Aciduria" is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism property_value: HP:0040005 "Increased concentration of `(4-hydroxyphenyl)pyruvic acid` (CHEBI:15999) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003162 name: Fasting hypoglycemia xref: UMLS:C0271708 "Fasting Hypoglycemia" is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003163 name: Elevated urinary delta-aminolevulinic acid def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine." [HPO:probinson] comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. xref: UMLS:C1848702 "Elevated urinary delta-aminolevulinic acid" is_a: HP:0010472 ! Abnormality of the heme biosynthetic pathway property_value: HP:0040005 "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003164 name: Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency is_a: HP:0003117 ! Abnormality of circulating hormone level is_a: HP:0012285 ! Abnormal hypothalamus physiology [Term] id: HP:0003165 name: Elevated circulating parathyroid hormone (PTH) level def: "An abnormal increased concentration of parathyroid hormone." [HPO:probinson] synonym: "Elevated serum parathyroid hormone" EXACT [] synonym: "Elevated serum parathyroid hormone level" EXACT [] synonym: "Elevated serum pth" EXACT [] synonym: "Increased serum parathyroid hormone" EXACT [] xref: UMLS:C0857973 "Increased serum parathyroid hormone" is_a: HP:0003117 ! Abnormality of circulating hormone level is_a: HP:0100530 ! Abnormality of calcium-phosphate metabolism [Term] id: HP:0003166 name: Increased urinary taurine def: "Increased concentration of taurine in the urine." [HPO:probinson] is_a: HP:0003355 ! Aminoaciduria property_value: HP:0040005 "Increased concentration of `taurine` (CHEBI:15891) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003167 name: Carnosinuria def: "An increased concentration of carnosine in the urine." [HPO:probinson] comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine. xref: UMLS:C0268632 "Carnosinuria" is_a: HP:0003355 ! Aminoaciduria property_value: HP:0040005 "An increased concentration of `carnosine` (CHEBI:15727) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003168 name: Dibasicaminoaciduria is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003170 name: Abnormality of the acetabulum def: "An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint." [HPO:probinson] subset: hposlim_core synonym: "Acetabular abnormality" EXACT [] is_a: HP:0001384 ! Abnormality of the hip joint property_value: HP:0040005 "An abnormality of the acetabulum, i.e., the `Acetabular part of hip bone` (FMA:16579), which together with the head of the femur forms the hip joint." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003172 name: Abnormality of the pubic bone def: "An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the pubic bones" EXACT [] synonym: "Abnormality of the pubis" EXACT [] is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003173 name: Hypoplastic pubic bone def: "Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone." [HPO:probinson] synonym: "Hypoplastic pubic bones" EXACT [] synonym: "Hypoplastic pubis" EXACT [] xref: UMLS:C1865030 "Hypoplastic pubic bones" is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0003174 name: Abnormality of the ischium def: "An anomaly of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] comment: The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). synonym: "Abnormality of the ischial bones" EXACT [] synonym: "Anomaly of the ischium" EXACT [] is_a: HP:0003272 ! Abnormality of the hip bone property_value: HP:0040005 "An anomaly of the `ischium` (FMA:16592), which forms the lower and back part of the hip bone." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003175 name: Hypoplastic ischia def: "Underdevelopment of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic ischial bones" EXACT [] synonym: "Hypoplastic ischii" EXACT [] synonym: "Hypoplastic ischium" EXACT [] xref: UMLS:C1860206 "Hypoplastic ischia" is_a: HP:0003174 ! Abnormality of the ischium property_value: HP:0040005 "Underdevelopment of the `ischium` (FMA:16592), which forms the lower and back part of the hip bone." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003177 name: Squared iliac bones def: "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance." [HPO:probinson] synonym: "Square iliac bones" EXACT [] synonym: "Squaring of iliac bones" EXACT [] xref: UMLS:C1838186 "Square iliac bones" is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003179 name: Protrusio acetabuli def: "Intrapelvic bulging of the medial acetabular wall." [HPO:probinson] comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. subset: hposlim_core synonym: "Protrusio acetabulae" EXACT [] xref: SNOMEDCT:59606006 "Protrusio acetabuli" xref: UMLS:C0409495 "Protrusio acetabuli" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003180 name: Flat acetabular roof alt_id: HP:0003171 alt_id: HP:0008832 alt_id: HP:0008834 def: "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does." [HPO:probinson] subset: hposlim_core synonym: "Flat acetabular roofs" EXACT [] synonym: "Flattened acetabular roof" EXACT [] synonym: "Horizontal acetabulae" EXACT [] synonym: "Horizontal acetabular roof" EXACT [] synonym: "Horizontal acetabular roofs" EXACT [] xref: UMLS:C1836867 "Horizontal acetabular roof" xref: UMLS:C1865029 "Flattened acetabular roof" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003182 name: Shallow acetabular fossae synonym: "Shallow acetabula" EXACT [] synonym: "Shallow acetabulae" EXACT [] synonym: "Shallow acetabular fossa" EXACT [] synonym: "Shallow acetabulum" EXACT [] xref: UMLS:C1854910 "Shallow acetabular fossae" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003183 name: Wide pubic symphysis def: "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:probinson] subset: hposlim_core synonym: "Wide symphysis of pubis" EXACT [] xref: UMLS:C1857190 "Wide pubic symphysis" is_a: HP:0003172 ! Abnormality of the pubic bone [Term] id: HP:0003184 name: Decreased hip abduction def: "Reduced ability to move the femur outward to the side." [HPO:probinson] synonym: "Limited hip abduction" EXACT [] xref: UMLS:C1836589 "Decreased hip abduction" is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003185 name: Short sacroiliac notch alt_id: HP:0008815 def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch." [] {comment="HPO:probinson"} synonym: "Shortened sacroiliac notches" EXACT [] synonym: "Small sacroiliac notch" EXACT [] xref: UMLS:C1861219 "Small sacroiliac notches" is_a: HP:0002867 ! Abnormality of the ilium is_a: HP:0030266 ! Abnormality of the sacroiliac notch [Term] id: HP:0003186 name: Inverted nipples def: "The presence of nipples that instead of pointing outward are retracted inwards." [HPO:sdoelken] synonym: "Invaginated nipples" EXACT [HPO:curators] xref: UMLS:C0269269 "Inverted nipples" is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0003187 name: Breast hypoplasia alt_id: HP:0000784 def: "Underdevelopment of the breast." [HPO:probinson] synonym: "Underdeveloped breasts" EXACT [] xref: UMLS:C0266013 "Breast hypoplasia" is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts property_value: HP:0040005 "Underdevelopment of the `breast` (FMA:9601)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003189 name: Long nose alt_id: HP:0005283 alt_id: HP:0200142 def: "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [pmid:19152422] xref: UMLS:C1839798 "Long nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003191 name: Cleft ala nasi alt_id: HP:0004412 def: "The presence of a notch in the margin of the ala nasi." [HPO:probinson, pmid:19152422] comment: The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity. synonym: "Ala nasi, cleft" EXACT [] synonym: "Alar clefts" EXACT [] synonym: "Notched nasal alae" EXACT [] xref: UMLS:C1844537 "Notched nasal alae" is_a: HP:0000429 ! Abnormality of the nasal alae property_value: HP:0040005 "The presence of a notch in the margin of the `ala nasi` (FMA:59519)." xsd:string {xref="HPO:probinson", xref="pmid:19152422"} [Term] id: HP:0003193 name: Allergic rhinitis xref: UMLS:C0002103 "Allergic rhinitis NOS" is_a: HP:0012384 ! Rhinitis is_a: HP:0012393 ! Allergy [Term] id: HP:0003194 name: Short nasal bridge xref: UMLS:C1854689 "Short nasal bridge" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0003196 name: Short nose alt_id: HP:0000440 alt_id: HP:0000449 alt_id: HP:0000450 alt_id: HP:0003192 alt_id: HP:0003195 alt_id: HP:0005270 alt_id: HP:0200092 def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. subset: hposlim_core synonym: "Hypoplastic nose" EXACT [] synonym: "Nasal hypoplasia" EXACT [] synonym: "Small nose" RELATED [] xref: UMLS:C1844856 "Nasal hypoplasia" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003198 name: Myopathy alt_id: HP:0003569 alt_id: HP:0003705 alt_id: HP:0003742 alt_id: HP:0003802 def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. synonym: "Myopathic changes" EXACT [] xref: UMLS:C0026848 "Myopathy" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003199 name: Decreased muscle mass alt_id: HP:0003732 synonym: "Underdeveloped muscles" EXACT [] xref: UMLS:C1837466 "Decreased muscle mass" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003200 name: Ragged-red muscle fibers alt_id: HP:0009076 def: "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm." [HPO:probinson, pmid:12075011, pmid:16537564] comment: MERGED COMMENT:\nTARGET COMMENT: This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH).\n--------------------\nSOURCE COMMENT: Respiratory chain complex IV activity can be assayed by immunofluorescence. synonym: "Mitochondrial proliferation in muscle tissue" EXACT [] synonym: "Ragged red muscle fibers" EXACT [] synonym: "Ragged-red fibers" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003201 name: Rhabdomyolysis def: "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream." [HPO:probinson] xref: MeSH:D012206 "Rhabdomyolysis" xref: UMLS:C0035410 "Rhabdomyolysis" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003202 name: Skeletal muscle atrophy alt_id: HP:0001299 alt_id: HP:0003545 alt_id: HP:0003671 alt_id: HP:0003702 alt_id: HP:0003746 alt_id: HP:0006995 alt_id: HP:0007171 alt_id: HP:0007356 alt_id: HP:0009010 alt_id: HP:0009048 alt_id: HP:0100868 def: "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] synonym: "Amyotrophy" EXACT [] synonym: "Amyotrophy involving the extremities" EXACT [] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle atrophy, neurogenic" EXACT [] synonym: "Muscle hypotrophy" EXACT [] synonym: "Muscle wasting" EXACT [] synonym: "Muscular atrophy" EXACT [] synonym: "Neurogenic muscle atrophy" EXACT [] synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT [] synonym: "Neurogenic muscular atrophy" EXACT [] xref: MeSH:D009133 "Muscular Atrophy" xref: UMLS:C0026846 "Amyotrophy" is_a: HP:0030236 ! Abnormality of muscle size [Term] id: HP:0003203 name: Negative nitroblue tetrazolium (NBT) reduction test def: "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria." [HPO:probinson] comment: The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease. is_a: HP:0011993 ! Impaired neutrophil bactericidal activity property_value: HP:0040005 "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in `superoxide-generating NADPH oxidase activity` (GO:0016175) with inability to efficiently kill phagocytized bacteria." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003204 name: Intracellular accumulation of autofluorescent lipopigment storage material def: "The intracellular accumulation of autofluorescent storage material." [HPO:probinson, pmid:16455164] comment: Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003205 name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern." [HPO:probinson] synonym: "'curvilinear profiles' ultrastructurally" EXACT [] synonym: "'Curvilinear profiles' ultrastructurally in cells" EXACT [] synonym: "Curvilinear profiles ultrastructurally" EXACT [] synonym: "Intracellular curvilinear profiles on ultrastructural analysis" EXACT [] xref: UMLS:C1866287 "'Curvilinear profiles' ultrastructurally" is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material property_value: HP:0040005 "An `intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003204) in a `curved` (PATO:0000406) pattern." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003206 name: Decreased activity of NADPH oxidase is_a: HP:0004358 ! Abnormality of superoxide metabolism [Term] id: HP:0003207 name: Arterial calcification def: "Pathological deposition of calcium salts in one or more arteries." [HPO:probinson, pmid:18519861] xref: UMLS:C1168153 "Arterial calcification" is_a: HP:0004934 ! Vascular calcification is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2008-03-26T04:05:00Z [Term] id: HP:0003208 name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern." [HPO:probinson] synonym: "'Fingerprint profiles' ultrastructurally in cells" EXACT [] synonym: "Fingerprint profiles ultrastructurally" EXACT [] is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material property_value: HP:0040005 "An `intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003204) in a `trabecular` (PATO:0002121) or fingerprint-like pattern." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003209 name: Decreased pyruvate carboxylase activity def: "A decreased rate of pyruvate carboxylase activity." [HPO:probinson] comment: Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle. is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism property_value: HP:0040005 "A `decreased rate` (PATO:0000911) of `pyruvate carboxylase activity` (GO:0004736)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003210 name: Decreased methylmalonyl-CoA mutase activity def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity." [HPO:probinson] comment: The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids. synonym: "Decreased methylmalonyl-CoA mutase (mut, 609058) activity" EXACT [] is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism property_value: HP:0040005 "An `abnormality of Krebs cycle metabolism` (HP:0000816) that is characterized by a `decreased rate` (PATO:0000911) of `methylmalonyl-CoA mutase activity` (GO:0004494)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003212 name: Increased IgE level alt_id: HP:0005382 alt_id: HP:0005418 alt_id: HP:0005433 def: "An abnormally increased level of immunoglobulin E in blood." [HPO:probinson] synonym: "Elevated immunoglobulin E" EXACT [] synonym: "Elevated serum IgE" EXACT [] synonym: "High immunoglobulin E" EXACT [] xref: UMLS:C1839165 "Elevated serum IgE" is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003213 name: Deficient excision of UV-induced pyrimidine dimers in DNA is_a: HP:0003254 ! Abnormality of DNA repair is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003214 name: Prolonged G2 phase of cell cycle is_a: HP:0011018 ! Abnormality of the cell cycle [Term] id: HP:0003215 name: Dicarboxylic aciduria def: "An increased concentration of dicarboxylic acid in the urine." [HPO:gcarletti] comment: Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine. xref: UMLS:C1856432 "Dicarboxylic aciduria" is_a: HP:0001992 ! Organic aciduria is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism property_value: HP:0040005 "An increased concentration of `dicarboxylic acid` (CHEBI:35692) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003216 name: Generalized amyloid deposition def: "A diffuse form of amyloidosis." [HPO:probinson] comment: According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease. xref: UMLS:C1862968 "Generalized amyloid deposition" is_a: HP:0011034 ! Amyloidosis property_value: HP:0040005 "A `diffuse` (PATO:0001513) form of `amyloidosis` (HP:0011034)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003217 name: Hyperglutaminemia def: "An increased concentration of glutamine in the blood." [HPO:gcarletti, pmid:4696900] comment: Normal glutamine blood levels are around 550-600 micromole per liter. synonym: "High plasma glutamine" EXACT [] xref: UMLS:C1839533 "High plasma glutamine" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010903 ! Abnormality of glutamine metabolism property_value: HP:0040005 "An increased concentration of `glutamine` (CHEBI:28300) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti", xref="pmid:4696900"} [Term] id: HP:0003218 name: Oroticaciduria def: "An increased concentration of orotic acid in the urine (FMA:12274)." [HPO:gcarlotti] comment: Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis. synonym: "OROTIC ACIDURIA" RELATED [HPO:skoehler] xref: UMLS:C0268128 "Oroticaciduria" is_a: HP:0001941 ! Acidosis is_a: HP:0010928 ! Abnormality of orotic acid metabolism property_value: HP:0040005 "An increased concentration of `orotic acid` (CHEBI:16742) in the urine (FMA:12274)." xsd:string {xref="HPO:gcarlotti"} [Term] id: HP:0003219 name: Ethylmalonic aciduria def: "An increased concentration of ethylmalonic acid in the urine." [HPO:probinson] comment: Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group. xref: UMLS:C1865353 "Ethylmalonic aciduria" is_a: HP:0003215 ! Dicarboxylic aciduria property_value: HP:0040005 "An increased concentration of `ethylmalonic acid` (CHEBI:741548) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003220 name: Abnormality of chromosome stability alt_id: HP:0002915 alt_id: HP:0008307 def: "A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents." [HPO:probinson] synonym: "Chromosome breakage" EXACT [] synonym: "High frequency of chromosome breaks in lymphocytes" EXACT [] synonym: "Increased chromosomal breakage" EXACT [] synonym: "Increased chromosomal breakage rate" EXACT [] synonym: "Increased chromosome breakage" EXACT [] synonym: "Multiple chromosomal breaks" EXACT [] synonym: "Tendency to chromosomal breakage" EXACT [] xref: UMLS:C1859424 "Increased chromosomal breakage" is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003221 name: Chromosomal breakage induced by crosslinking agents def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C." [HPO:sdoelken] comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. synonym: "Chromosomal breakage induced by diepoxybutane" EXACT [] synonym: "Chromosomal breakage induced by mitomycin C" EXACT [] is_a: HP:0040012 ! Chromsome breakage [Term] id: HP:0003223 name: Decreased methylcobalamin alt_id: HP:0008287 def: "Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12." [HPO:probinson] synonym: "Methylcobalamin deficiency" EXACT [] is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism property_value: HP:0040005 "Decreased concentration of `methylcobalamin` (CHEBI:28115). Methylcobalamin is a form of vitamin B12." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003224 name: Increased cellular sensitivity to UV light is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003225 name: Reduced factor V activity def: "Decreased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [HPO:probinson] synonym: "Factor V deficiency" RELATED [] xref: UMLS:C1414509 "Factor V deficiency" is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0003226 name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern." [HPO:probinson] synonym: "Rectilinear profiles ultrastructurally" EXACT [] xref: UMLS:C1850447 "'Rectilinear' profiles ultrastructurally" is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material property_value: HP:0040005 "An `intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003204) in a `straight` (PATO:0002180) or rectilinear pattern." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003228 name: Hypernatremia def: "An abnormally increased sodium concentration in the blood." [HPO:probinson] xref: MeSH:D006955 "Hypernatremia" xref: UMLS:C1522136 "Hypernatremia" is_a: HP:0010931 ! Abnormality of sodium homeostasis property_value: HP:0040005 "An abnormally increased `sodium` (CHEBI:29101) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003231 name: Hypertyrosinemia def: "An increased concentration of tyrosine in the blood." [HPO:probinson] comment: Defect in fumarylacetoacetase. synonym: "Tyrosinemia" EXACT [] xref: MeSH:D020176 "Tyrosinemias" xref: UMLS:C0268483 "Tyrosinaemia" is_a: HP:0010917 ! Abnormality of tyrosine metabolism property_value: HP:0040005 "An increased concentration of `tyrosine` (CHEBI:18186) in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003232 name: Mitochondrial malic enzyme reduced synonym: "DECREASED MITOCHONDRIAL MALIC ENZYME" EXACT [HPO:skoehler] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003233 name: Hypoalphalipoproteinemia def: "An decreased concentration of high-density lipoprotein cholesterol in the blood." [HPO:gcarletti] synonym: "Decreased circulating high-density lipoprotein cholesterol" EXACT [] synonym: "Decreased HDL cholesterol" EXACT [] synonym: "Low HDL-cholesterol" EXACT [] xref: UMLS:C0151691 "Decreased HDL cholesterol" is_a: HP:0010981 ! Hypolipoproteinemia property_value: HP:0040005 "An decreased concentration of `high-density lipoprotein cholesterol` (CHEBI:47775) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003234 name: Decreased plasma carnitine def: "A decreased concentration of carnitine in the blood." [HPO:gcarletti] comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. synonym: "Carnitine deficiency" RELATED [] xref: UMLS:C1860067 "Decreased plasma carnitine" is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0010967 ! Abnormality of carnitine metabolism property_value: HP:0040005 "A decreased concentration of `carnitine` (CHEBI:17126) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003235 name: Hypermethioninemia def: "An increased concentration of methionine in the blood." [HPO:gcarletti] comment: Elevated blood methionine levels in the range of 500-2000 micromolar. synonym: "Methioninemia" EXACT [] xref: UMLS:C0268621 "Methioninaemia" is_a: HP:0010901 ! Abnormality of methionine metabolism property_value: HP:0040005 "An increased concentration of `methionine` (CHEBI:16811) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003236 name: Elevated serum creatine phosphokinase alt_id: HP:0002147 alt_id: HP:0002906 alt_id: HP:0003078 alt_id: HP:0003525 alt_id: HP:0003531 alt_id: HP:0008164 def: "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson] synonym: "Elevated blood creatine phosphokinase" EXACT [] synonym: "Elevated circulating creatine phosphokinase" EXACT [] synonym: "Elevated creatine kinase" EXACT [] synonym: "Elevated serum CPK" EXACT [] synonym: "Elevated serum creatine kinase" EXACT [] synonym: "High serum creatine kinase" EXACT [] synonym: "Increased creatine kinase" EXACT [] synonym: "Increased creatine phosphokinase" EXACT [] synonym: "Increased creatine phosphokinase (CPK)" EXACT [] synonym: "Increased serum CK" EXACT [] synonym: "Increased serum creatine kinase" EXACT [] synonym: "Increased serum creatine phosphokinase" EXACT [] xref: UMLS:C1839664 "High serum creatine kinase" is_a: HP:0040081 ! Abnormal levels of creatine kinase in blood [Term] id: HP:0003237 name: Increased IgG level def: "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson] synonym: "Increased levels of IgG" EXACT [] is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003238 name: Hyperpepsinogenemia I is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0003239 name: Phosphoethanolaminuria def: "An increased concentration of phosphoethanolamine in the urine." [HPO:probinson] xref: UMLS:C0268412 "Phosphoethanolaminuria" is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "An increased concentration of ` phosphoethanolamine` (CHEBI:36711) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003240 name: Increased phosphoribosylpyrophosphate (PRPP) synthetase is_a: HP:0010932 ! Abnormality of nucleobase metabolism [Term] id: HP:0003241 name: External genital hypoplasia alt_id: HP:0000788 alt_id: HP:0003245 def: "Underdevelopment of part or all of the external reproductive organs." [HPO:probinson] comment: Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. synonym: "Hypogenitalism" EXACT [] synonym: "Small genitalia" EXACT [] xref: UMLS:C1867445 "Genital hypoplasia" is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003244 name: Penile hypospadias def: "Location of the urethral opening on the inferior aspect of the penis." [HPO:curators] xref: UMLS:C1691215 "Penile hypospadias" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0003246 name: Prominent scrotal raphe def: "Increased size of the ridge of tissue that extends along the midline of the scrotum." [HPO:probinson] synonym: "Prominent perineal raphe" EXACT [] xref: UMLS:C1852407 "Prominent scrotal raphe" is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0003247 name: Overgrowth of external genitalia is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003248 name: Gonadal tissue inappropriate for external genitalia or chromosomal sex is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0003249 name: Genital ulcers xref: UMLS:C0151281 "Genital ulcers" is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0003250 name: Aplasia of the vagina alt_id: HP:0008709 def: "Aplasia of the vagina." [HPO:probinson] synonym: "Absent vagina" EXACT [] synonym: "Congenital absence of the vagina" EXACT [] xref: UMLS:C0220763 "Absent vagina" is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina property_value: HP:0040005 "`Aplasia` (MPATH:58) of the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003251 name: Male infertility xref: MeSH:D007248 "Male infertility" xref: UMLS:C0021364 "Male infertility" is_a: HP:0000789 ! Infertility [Term] id: HP:0003252 name: Anteriorly displaced genitalia is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0003254 name: Abnormality of DNA repair def: "An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology property_value: HP:0040005 "An abnormality of the process of `DNA repair` (GO:0006281), that is, of the process of restoring DNA after damage." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003256 name: Abnormality of the coagulation cascade alt_id: HP:0001925 def: "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." [HPO:probinson] synonym: "Coagulopathy" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003258 name: Glyoxalase deficiency is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis [Term] id: HP:0003259 name: Elevated serum creatinine alt_id: HP:0003227 def: "An increased amount of creatinine in the blood." [HPO:gcarletti] synonym: "Elevated creatinine" EXACT [] synonym: "Increased creatinine" EXACT [] synonym: "Increased serum creatinine" EXACT [] xref: UMLS:C0700225 "Increased serum creatinine" is_a: HP:0002157 ! Azotemia is_a: HP:0012100 ! Abnormal circulating creatinine level property_value: HP:0040005 "An increased amount of `creatinine` (CHEBI:16737) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003260 name: Hydroxyprolinemia def: "An increased concentration of hydroxyproline in the blood." [HPO:gcarletti] comment: Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter. xref: UMLS:C0268531 "Hydroxyprolinaemia" is_a: HP:0010907 ! Abnormality of proline metabolism property_value: HP:0040005 "An increased concentration of `hydroxyproline` (CHEBI:18095) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003261 name: Increased IgA level alt_id: HP:0004436 alt_id: HP:0005351 alt_id: HP:0005417 def: "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson] synonym: "Elevated IgA" EXACT [] synonym: "Elevated serum IgA" EXACT [] synonym: "Increased levels of IgA" EXACT [] synonym: "Increased serum IgA" EXACT [] xref: UMLS:C1839166 "Elevated serum IgA" is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003262 name: Smooth muscle antibody positivity def: "The presence in serum of antibodies against smooth muscle." [HPO:probinson] comment: Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis. synonym: "Smooth muscle antibody positive" EXACT [] xref: UMLS:C0241185 "SMOOTH MUSCLE ANTIBODY POSITIVE" is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003264 name: Deficiency of N-acetylglucosamine-1-phosphotransferase comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003265 name: Neonatal hyperbilirubinemia alt_id: HP:0008152 def: "A type of hyperbilirubinemia with neonatal onset." [HPO:probinson] synonym: "Hyperbilirubinemia, neonatal" EXACT [] xref: MeSH:D051556 "Hyperbilirubinemia, Neonatal" xref: UMLS:C0857007 "Hyperbilirubinemia, Neonatal" is_a: HP:0002904 ! Hyperbilirubinemia property_value: HP:0040005 "A type of `hyperbilirubinemia` (HP:0002904) with `neonatal onset` (HP:0003623)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003267 name: Reduced orotidine 5-prime phosphate decarboxylase activity def: "An abnormal decrease in orotidine 5'-phosphate decarboxylase activity." [HPO:gcarletti] comment: The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis. synonym: "Orotidine-5-prime-phosphate decarboxylase defect" RELATED [] is_a: HP:0004353 ! Abnormality of pyrimidine metabolism property_value: HP:0040005 "An abnormal decrease in `orotidine 5'-phosphate decarboxylase activity` (GO:0004590)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003268 name: Argininuria def: "A increased concentration of arginine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours. is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010909 ! Abnormality of arginine metabolism property_value: HP:0040005 "A increased concentration of `arginine` (CHEBI:29016) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson", xref="pmid:18901181", xref="pmid:20240447"} [Term] id: HP:0003269 name: Sudanophilic leukodystrophy xref: UMLS:C0205711 "Sudanophilic leukodystrophy" is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0003270 name: Abdominal distention alt_id: HP:0001542 alt_id: HP:0003364 def: "Distention of the abdomen." [HPO:probinson] comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. subset: hposlim_core synonym: "Abdominal distension" EXACT [] synonym: "Abdominal swelling" EXACT [] synonym: "Distended abdomen" EXACT [] xref: SNOMEDCT:41931001 "Abdominal distension" xref: UMLS:C0000731 "Abdomen distended" is_a: HP:0011458 ! Abdominal symptom property_value: HP:0040005 "`Distention` (PATO:0001602) of the `abdomen` (FMA:9577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003271 name: Visceromegaly def: "Abnormal increased size of the viscera of the abdomen." [HPO:probinson] comment: Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. xref: UMLS:C0042782 "Visceromegaly" is_a: HP:0002012 ! Abnormality of the abdominal organs property_value: HP:0040005 "Abnormal `increased size` (PATO:0000586) of the `viscera of the abdomen` (FMA:259123)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003272 name: Abnormality of the hip bone def: "An abnormality of the hip bone." [HPO:probinson] comment: The hip region (as defined by the FMA) comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. synonym: "Abnormality of the hips" EXACT [] is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology property_value: HP:0040005 "An abnormality of the `hip bone` (FMA:16585)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003273 name: Hip contracture def: "Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint." [HPO:probinson, MeSH:D006616] synonym: "Flexion contracture of hips" EXACT [] synonym: "Flexion contractures of hips" EXACT [] synonym: "Hip contractures" EXACT [] synonym: "Hip flexion contractures" EXACT [] xref: MeSH:D006616 "Hip Contracture" xref: UMLS:C0409354 "Hip flexion contractures" is_a: HP:0005750 ! Contractures of the joints of the lower limbs is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003274 name: Hypoplastic acetabulae def: "Underdeveloped acetabulae." [HPO:probinson] subset: hposlim_core synonym: "Acetabular hypoplasia" EXACT [] synonym: "Hypoplastic acetabula" EXACT [] xref: UMLS:C1846442 "Hypoplastic acetabulae" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003275 name: Narrow pelvis def: "Reduced side to side width of the pelvis." [HPO:probinson] subset: hposlim_core xref: UMLS:C1848103 "Narrow pelvis" is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0003276 name: Pelvic exostoses def: "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are cappped by cartilage, and arise from a bone that develops from cartilage." [HPO:probinson] xref: UMLS:C1844689 "Pelvic exostoses" is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0003277 name: Constricted iliac wings xref: UMLS:C1854785 "Constricted iliac wings" is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0003278 name: Square pelvis def: "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure." [HPO:probinson] synonym: "Squared off pelvis" RELATED [] is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0003279 name: Coxa magna def: "Widening of the femoral head and neck." [HPO:probinson] comment: Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others. xref: UMLS:C1860826 "Coxa magna" is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003281 name: Increased serum ferritin def: "Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson] comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. synonym: "Elevated serum ferritin" EXACT [] synonym: "Increased ferritin" EXACT [] synonym: "Increased serum ferritin level" EXACT [] xref: UMLS:C0241013 "Increased serum ferritin" is_a: HP:0040133 ! Abnormal serum ferritin [Term] id: HP:0003282 name: Low alkaline phosphatase def: "Abnormally reduced serum levels of alkaline phosphatase activity." [HPO:probinson] synonym: "Decreased serum alkaline phosphatase" EXACT [] xref: UMLS:C1855813 "Low alkaline phosphatase" is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity property_value: HP:0040005 "Abnormally reduced serum levels of `alkaline phosphatase activity` (GO:0004035)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003286 name: Cystathioninemia def: "An increased concentration of cystathionine in the blood." [HPO:gcarletti, pmid:16902722] comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. xref: UMLS:C0268618 "Cystathioninaemia" is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism property_value: HP:0040005 "An increased concentration of `cystathionine` (CHEBI:17755) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti", xref="pmid:16902722"} [Term] id: HP:0003287 name: Abnormality of mitochondrial metabolism def: "A functional anomaly of mitochondria." [ORCID:0000-0001-5208-3432] synonym: "Mitochondrial dysfunction" EXACT [] is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0003288 name: Mitochondrial propionyl-CoA carboxylase (PCC) defect is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003292 name: Decreased serum leptin def: "A decreased concentration of leptin in the blood." [HPO:probinson, pmid:16932309] comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. xref: UMLS:C1837802 "Decreased serum leptin" is_a: HP:0004361 ! Abnormality of circulating leptin level property_value: HP:0040005 "A `decreased concentration` (PATO:0001163) of `leptin` (PRO:000009758) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson", xref="pmid:16932309"} [Term] id: HP:0003295 name: Impaired FSH and LH secretion is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003296 name: Hyperthreoninuria def: "An increased concentration of threonine in the urine." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours. is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010900 ! Abnormality of threonine metabolism property_value: HP:0040005 "An increased concentration of `threonine` (CHEBI:26986) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson", xref="pmid:18901181", xref="pmid:20240447"} [Term] id: HP:0003297 name: Hyperlysinuria alt_id: HP:0002158 def: "An increased concentration of lysine in the blood." [HPO:probinson, pmid:18901181, pmid:20240447] comment: Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours. synonym: "Lysinuria" EXACT [] is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010908 ! Abnormality of lysine metabolism property_value: HP:0040005 "An increased concentration of `lysine` (CHEBI:25094) in the blood." xsd:string {xref="HPO:probinson", xref="pmid:18901181", xref="pmid:20240447"} [Term] id: HP:0003298 name: Spina bifida occulta def: "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin." [HPO:probinson] comment: May be asymptomatic. subset: hposlim_core xref: MeSH:D016136 "Spina Bifida Occulta" xref: SNOMEDCT:76916001 "Spina bifida occulta" xref: UMLS:C0080174 "Spina Bifida Occulta" is_a: HP:0002414 ! Spina bifida [Term] id: HP:0003300 name: Ovoid vertebral bodies alt_id: HP:0004559 def: "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval." [HPO:probinson] synonym: "Bullet vertebral body" RELATED [] synonym: "Oval vertebral bodies" EXACT [] synonym: "Ovoid vertebrae" EXACT [] synonym: "Ovoid-shaped vertebral bodies" EXACT [] xref: UMLS:C1836864 "Ovoid vertebral bodies" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003301 name: Irregular vertebral endplates alt_id: HP:0003420 alt_id: HP:0004583 alt_id: HP:0004628 def: "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:probinson] subset: hposlim_core synonym: "end-plate irregularities" EXACT [] synonym: "endplate irregularities" EXACT [] synonym: "endplate irregularity" EXACT [] synonym: "Irregular end plates" EXACT [] synonym: "Irregular endplates" EXACT [] synonym: "irregular vertebral plates" EXACT [] synonym: "vertebral endplate irregularity" EXACT [] xref: UMLS:C1836587 "Irregular vertebral endplates" is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0003302 name: Spondylolisthesis def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [HPO:probinson, pmid:20411054] synonym: "Spondylolithesis" EXACT [] xref: MeSH:D013168 "Spondylolisthesis" xref: UMLS:C0038016 "Spondylolisthesis" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003304 name: Spondylolysis def: "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma." [HPO:probinson, pmid:20440613] comment: The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis. subset: hposlim_core xref: MeSH:D013169 "Spondylolysis" xref: UMLS:C0038018 "Spondylolysis" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003305 name: Block vertebrae def: "Congenital synostosis between two or more adjacent vertebrae." [HPO:probinson] xref: UMLS:C1844753 "Block vertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003306 name: Spinal rigidity def: "Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion." [HPO:probinson, pmid:11601420, pmid:2246660] synonym: "Rigid spine" EXACT [] xref: UMLS:C1858025 "Spinal rigidity" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003307 name: Hyperlordosis alt_id: HP:0002939 def: "Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." [HPO:probinson] subset: hposlim_core synonym: "Lordosis" EXACT [] xref: MeSH:D008141 "Lordosis" xref: SNOMEDCT:61960001 "Lordosis deformity of spine" xref: UMLS:C0599412 "lordosis" xref: UMLS:C1846834 "Hyperlordosis" is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0003308 name: Cervical subluxation def: "A partial dislocation of one or more intervertebral joints in the cervical vertebral column." [HPO:probinson] xref: UMLS:C1846798 "Cervical subluxation" is_a: HP:0003319 ! Abnormality of the cervical spine property_value: HP:0040005 "A `partial dislocation` (PATO:0002157) of one or more intervertebral joints in the `cervical vertebral column` (FMA:24138)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003309 name: Ovoid thoracolumbar vertebrae synonym: "Ovoid thoracic and lumbar vertebrae" EXACT [] xref: UMLS:C1854824 "Ovoid thoracolumbar vertebrae" is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003310 name: Abnormality of the odontoid process alt_id: HP:0004600 def: "Abnormality of the dens of the axis, which is also known as the odontoid process." [HPO:probinson] comment: The dens of the axis is a protuberance of the C2 vetebral body around which the first vertebra rotates. synonym: "Abnormal odontoid peg" EXACT [] synonym: "Abnormal odontoid process" EXACT [] xref: UMLS:C1864794 "Abnormal odontoid peg" is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "Abnormality of the `dens of the axis` (FMA:24043), which is also known as the odontoid process." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003311 name: Hypoplasia of the odontoid process alt_id: HP:0003299 alt_id: HP:0004613 alt_id: HP:0008481 def: "Developmental hypoplasia of the dens of the axis." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic odontoid process" EXACT [] synonym: "Odontoid hypoplasia" EXACT [] synonym: "Small odontoid process" EXACT [] xref: UMLS:C1846439 "Odontoid hypoplasia" is_a: HP:0003310 ! Abnormality of the odontoid process is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column property_value: HP:0040005 "Developmental hypoplasia of the `dens of the axis` (FMA:24043)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003312 name: Abnormal form of the vertebral bodies def: "Abnormal morphology of vertebral body." [] synonym: "Abnormally shaped vertebrae" EXACT [] xref: UMLS:C1839326 "Abnormally-shaped vertebrae" is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0003316 name: Butterfly vertebrae def: "In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra." [HPO:probinson, pmid:3693103] synonym: "Schmetterlingswirbel" EXACT [] xref: UMLS:C1844752 "Butterfly vertebrae" is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003318 name: Cervical spine hypermobility xref: UMLS:C0574967 "Cervical spine hypermobility" is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003319 name: Abnormality of the cervical spine alt_id: HP:0004587 def: "Any abnormality of the cervical vertebral column." [HPO:probinson] synonym: "Abnormal cervical spine" EXACT [] synonym: "Abnormality of the cervical vertebrae" EXACT [] synonym: "Cervical spine abnormalities" EXACT [] synonym: "Cervical vertebral abnormalities" EXACT [] synonym: "CERVICAL VERTEBRAL ANOMALIES" RELATED [HPO:skoehler] xref: UMLS:C1852464 "Cervical spine abnormalities" is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "Any abnormality of the `cervical vertebral column` (FMA:24138)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003320 name: C1-C2 subluxation def: "A partial dislocation of the atlantoaxial joints." [HPO:curators] comment: A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. xref: UMLS:C1848446 "C1-Csubluxation" is_a: HP:0003308 ! Cervical subluxation is_a: HP:0008440 ! C1-C2 vertebral abnormality property_value: HP:0040005 "A `partial dislocation` (PATO:0002157) of the `atlantoaxial joints` (FMA:72336)." xsd:string {xref="HPO:curators"} [Term] id: HP:0003321 name: Biconcave flattened vertebrae alt_id: HP:0005782 is_a: HP:0000926 ! Platyspondyly is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0003323 name: Progressive muscle weakness alt_id: HP:0009032 synonym: "Muscle weakness, progressive" EXACT [] synonym: "Progressive muscular weakness" EXACT [] xref: UMLS:C0240421 "Muscle weakness, progressive" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003324 name: Generalized muscle weakness alt_id: HP:0003686 alt_id: HP:0003723 def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [HPO:probinson] synonym: "Generalized weakness" EXACT [] synonym: "Muscle weakness, diffuse" EXACT [] synonym: "Muscle weakness, generalized" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003325 name: Limb-girdle muscle weakness alt_id: HP:0008971 def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators] synonym: "Limb girdle weakness" EXACT [] synonym: "Muscle weakness, limb-girdle" EXACT [] synonym: "Muscular weakness, limb-girdle" EXACT [] xref: UMLS:C1858127 "Limb girdle weakness" is_a: HP:0001324 ! Muscle weakness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003326 name: Myalgia alt_id: HP:0003718 def: "A tendency to experience muscle pain." [HPO:curators] synonym: "Muscle pain" EXACT [] synonym: "MYALGIAS" RELATED [HPO:skoehler] xref: UMLS:C1963177 "Muscle pain" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003327 name: Axial muscle weakness def: "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators] xref: UMLS:C1843697 "Axial muscle weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003328 name: Abnormal hair laboratory examination is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0003329 name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003330 name: Abnormal bone structure def: "Any anomaly in the composite material or the layered arrangement of the bony skeleton." [HPO:probinson] xref: MP:0003795 "abnormal bone structure" is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0003332 name: Absent primary metaphyseal spongiosa is_a: HP:0005089 ! Abnormal metaphyseal trabeculation [Term] id: HP:0003333 name: Increased serum beta-hexosaminidase alt_id: HP:0008299 comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. is_a: HP:0004345 ! Abnormality of ganglioside metabolism [Term] id: HP:0003334 name: Elevated circulating catecholamine level def: "An abnormal increase in catecholamine concentration in the blood." [HPO:probinson] comment: Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma. is_a: HP:0012099 ! Abnormality of circulating catecholamine level property_value: HP:0040005 "An abnormal increase in `catecholamine` (CHEBI:33567) concentration in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003335 name: Low gonadotropins (secondary hypogonadism) synonym: "Gonadotropin insufficiency" EXACT [] xref: UMLS:C1846227 "Gonadotropin insufficiency" is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003336 name: Abnormal enchondral ossification alt_id: HP:0003331 def: "An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage." [HPO:probinson] comment: This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy. is_a: HP:0011849 ! Abnormal bone ossification property_value: HP:0040005 "An abnormality of the process of `endochondral ossification` (GO:0001958), which is a type of replacement ossification in which bone tissue replaces cartilage." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003337 name: Reduced prothrombin consumption alt_id: HP:0008172 def: "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia." [HPO:probinson] synonym: "Poor prothrombin consumption" EXACT [] is_a: HP:0012200 ! Abnormality of prothrombin [Term] id: HP:0003338 name: Focal necrosis of right ventricular muscle cells is_a: HP:0001627 ! Abnormality of cardiac morphology [Term] id: HP:0003339 name: Pyrimidine-responsive megaloblastic anemia def: "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid." [HPO:probinson] synonym: "Anemia corrected by uridylic acid and cytidylic acid" EXACT [] is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0003340 name: obsolete Abnormal dermatological laboratory findings comment: Consider integument abnormality, HP:0001574. is_obsolete: true consider: HP:0000951 [Term] id: HP:0003341 name: Junctional split def: "The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin." [HPO:probinson] synonym: "Subepidermal blistering with cleavage in the lamina lucida" EXACT [] is_a: HP:0008066 ! Abnormal blistering of the skin property_value: HP:0040005 "The formation of bullae (blisters) with cleavage in the `lamina lucida` (FMA:62921) layer of the skin." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003343 name: Glutathione synthetase deficiency xref: UMLS:C0398746 "GLUTATHIONE SYNTHETASE DEFICIENCY" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003344 name: 3-Methylglutaric aciduria synonym: "3-Methylglutaconicaciduria" EXACT [] synonym: "3-methylglutaricaciduria" EXACT [] xref: UMLS:C0278026 "Aciduria" is_a: HP:0003535 ! 3-Methylglutaconic aciduria [Term] id: HP:0003345 name: Elevated urinary norepinephrine def: "An increased concentration of noradrenaline in the urine." [HPO:probinson] is_a: HP:0011976 ! Elevated urinary catecholamines property_value: HP:0040005 "An increased concentration of `noradrenaline` (CHEBI:33569) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003347 name: Impaired lymphocyte transformation with phytohemagglutinin def: "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes." [HPO:probinson] comment: The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis. is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0003348 name: Hyperalaninemia def: "An increased concentration of alanine in the blood." [HPO:gcarletti, pmid:16902722, pmid:4696900] comment: Normal alanine blood levels are around 350-400 micromole per liter. synonym: "Increased blood alanine" EXACT [] synonym: "Increased serum alanine" EXACT [] xref: UMLS:C1839424 "Increased blood alanine" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010916 ! Abnormality of alanine metabolism property_value: HP:0040005 "An increased concentration of `alanine` (CHEBI:16449) in the blood." xsd:string {xref="HPO:gcarletti", xref="pmid:16902722", xref="pmid:4696900"} [Term] id: HP:0003349 name: Low cholesterol esterification rates def: "A reduction in the rate of cholesterol esterification." [HPO:probinson] xref: UMLS:C1843371 "Low cholesterol esterification rates" is_a: HP:0003107 ! Abnormality of cholesterol metabolism property_value: HP:0040005 "A reduction in the rate of `cholesterol esterification` (GO:0034435)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003351 name: Decreased circulating renin level alt_id: HP:0003263 def: "An decreased level of renin (PRO:000013883) in the blood." [HPO:probinson] synonym: "Decreased plasma renin activity" EXACT [] synonym: "Low plasma renin activity" EXACT [] synonym: "Suppressed plasma renin activity" EXACT [] xref: UMLS:C1845206 "Decreased plasma renin activity" is_a: HP:0040084 ! Abnormal circulating renin property_value: HP:0040005 "An decreased level of renin (PRO:000013883) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003352 name: Endopolyploidy on chromosome studies of bone marrow def: "An increase in the number of chromosome sets per cell in bone marrow cells." [HPO:probinson] comment: Endopolyploidy is caused by replication without cell division. is_a: HP:0002916 ! Abnormality of chromosome segregation [Term] id: HP:0003353 name: Propionyl-CoA carboxylase deficiency def: "An abnormality of amino acid metabolism characterized by a decreased rate of propionyl-CoA carboxylase activity." [HPO:probinson] comment: Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids. xref: UMLS:C0268579 "Propionyl-CoA carboxylase deficiency" is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "An `abnormality of amino acid metabolism` (HP:0004337) characterized by a `decreased rate` (PATO:0000911) of `propionyl-CoA carboxylase activity` (GO:0004658)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003354 name: Hyperthreoninemia def: "An increased concentration of threonine in the blood." [HPO:probinson] xref: UMLS:C1848861 "HYPERTHREONINEMIA" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010900 ! Abnormality of threonine metabolism property_value: HP:0040005 "An increased concentration of `threonine` (CHEBI:26986) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003355 name: Aminoaciduria alt_id: HP:0002903 alt_id: HP:0200014 def: "An increased concentration of an amino acid in the urine." [HPO:SKOEHLER] synonym: "Abnormal urinary amino-acid findings" RELATED [] xref: UMLS:C0238621 "Aminoaciduria" is_a: HP:0004337 ! Abnormality of amino acid metabolism is_a: HP:0012072 ! Aciduria property_value: HP:0040005 "An increased concentration of an `amino acid` (CHEBI:33709 ) in the `urine` (FMA:12274)." xsd:string {xref="HPO:SKOEHLER"} [Term] id: HP:0003357 name: Thymic hormone decreased is_a: HP:0000777 ! Abnormality of the thymus [Term] id: HP:0003358 name: Elevated intracellular cystine def: "An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells." [HPO:probinson] comment: Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond. xref: UMLS:C1857392 "Elevated white blood cell cystine" is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism is_a: HP:0010918 ! Abnormality of cysteine metabolism property_value: HP:0040005 "An increased concentration of `cystine` (CHEBI:17376) within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003359 name: Decreased urinary sulfate def: "Decreased concentration of sulfate in the urine." [HPO:probinson] is_a: HP:0012612 ! Abnormal urinary sulfate concentration property_value: HP:0040005 "Decreased concentration of `sulfate` (CHEBI:16189) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003361 name: Tryptophanuria def: "An increased concentration of tryptophan in the urine." [HPO:gcarletti, pmid:18901181] comment: Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours. xref: UMLS:C0268472 "Tryptophanuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0004365 ! Abnormality of tryptophan metabolism property_value: HP:0040005 "An increased concentration of `tryptophan` (CHEBI:27897) in the urine." xsd:string {xref="HPO:gcarletti", xref="pmid:18901181"} [Term] id: HP:0003362 name: Increased circulating very-low-density lipoprotein cholesterol def: "An increase in the amount of very-low-density lipoprotein cholesterol in the blood." [HPO:gcarletti] synonym: "Increased plasma VLDL cholesterol" EXACT [] is_a: HP:0010980 ! Hyperlipoproteinemia property_value: HP:0040005 "An increase in the amount of `very-low-density lipoprotein cholesterol` (CHEBI:47773) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003363 name: Abdominal situs inversus def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the viscera of the abdomen." [HPO:probinson] synonym: "Situs inversus visceralis" EXACT [] synonym: "Situs inversus viscerum" EXACT [] xref: UMLS:C0037221 "Situs inversus viscerum" is_a: HP:0001696 ! Situs inversus totalis is_a: HP:0011620 ! Abnormality of abdominal situs property_value: HP:0040005 "A left-right reversal (or \"mirror reflection\") of the anatomical location of the `viscera of the abdomen` (FMA:259123)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003365 name: Arthralgia of the hip def: "Joint pain affecting the hip." [HPO:probinson] synonym: "Arthralgia (hip)" EXACT [] synonym: "Coxalgia" EXACT [] is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003366 name: Abnormality of the femoral neck or head region is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0003367 name: Abnormality of the femoral neck def: "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] is_a: HP:0003366 ! Abnormality of the femoral neck or head region property_value: HP:0040005 "An abnormality of the `femoral neck` (FMA:42385) (which is the process of bone, connecting the femoral head with the femoral shaft)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003368 name: Abnormality of the femoral head def: "An abnormality of the femoral head." [HPO:probinson] is_a: HP:0003366 ! Abnormality of the femoral neck or head region property_value: HP:0040005 "An abnormality of the `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003370 name: Flat capital femoral epiphysis alt_id: HP:0006393 def: "An abnormal flattening of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Flat capital femoral epiphyses" EXACT [] synonym: "Flat femoral capital epiphyses" EXACT [] synonym: "Flat proximal femoral epiphyses" EXACT [] synonym: "Flattened proximal femoral epiphyses" EXACT [] xref: UMLS:C1856926 "Flat proximal femoral epiphyses" is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head property_value: HP:0040005 "An abnormal flattening of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003371 name: Enlargement of the proximal femoral epiphysis def: "An abnormal enlargement of the proximal epiphysis of the femur." [HPO:probinson] synonym: "Enlarged capital femoral epiphyses" EXACT [] xref: UMLS:C1859697 "Enlarged capital femoral epiphyses" is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010580 ! Enlarged epiphyses property_value: HP:0040005 "An abnormal enlargement of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003375 name: Narrow greater sacrosciatic notches alt_id: HP:0008805 alt_id: HP:0008813 alt_id: HP:0008840 alt_id: HP:0008842 def: "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] synonym: "Narrow sacrosciatic notch" EXACT [] synonym: "Narrow sciatic notches" EXACT [] synonym: "Narrowed greater sciatic notch" EXACT [] synonym: "Narrowed sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notches" EXACT [] xref: UMLS:C1857188 "Small sacrosciatic notches" is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch [Term] id: HP:0003376 name: Steppage gait def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:probinson] synonym: "'STEPPAGE' GAIT" EXACT [] xref: UMLS:C0427149 "'Steppage' gait" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0003378 name: Axonal degeneration/regeneration def: "A pattern of simultaneous degeneration and regeneration of axons (see comment)." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment. synonym: "Axon degeneration and regeneration" EXACT [] is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003380 name: Decreased number of peripheral myelinated nerve fibers alt_id: HP:0003385 alt_id: HP:0003386 alt_id: HP:0007093 alt_id: HP:0007135 alt_id: HP:0007177 alt_id: HP:0007320 alt_id: HP:0007322 def: "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. synonym: "Decreased number of large and small myelinated fibers" EXACT [] synonym: "Loss of myelinated fibers" EXACT [] is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003382 name: Hypertrophic nerve changes is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003383 name: Onion bulb formation alt_id: HP:0003389 alt_id: HP:0007013 alt_id: HP:0007022 alt_id: HP:0007084 alt_id: HP:0008276 def: "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves." [HPO:probinson] comment: This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve. synonym: "'Onion bulb' formations" EXACT [] synonym: "ONION BULB FORMATIONS" RELATED [HPO:skoehler] xref: UMLS:C1847906 "'Onion bulb' formations" is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003384 name: Peripheral axonal atrophy def: "Atrophic changes of axons of the peripheral nervous system." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. is_a: HP:0000764 ! Peripheral axonal degeneration property_value: HP:0040005 "Atrophic changes of `axons` (FMA:67308) of the peripheral nervous system." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003387 name: Decreased number of large peripheral myelinated nerve fibers alt_id: HP:0006868 alt_id: HP:0007031 alt_id: HP:0007315 def: "A reduced number of large myelinated nerve fibers." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. synonym: "Depletion of large myelinated fibers" EXACT [] synonym: "Loss of large myelinated fibers" EXACT [] synonym: "Loss of larger myelinated nerve fibers" EXACT [] is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers [Term] id: HP:0003388 name: Easy fatigability def: "Increased susceptibility to fatigue." [HPO:probinson] comment: Fatigue describes the inability to continue performing a task after multiple repetitions. xref: UMLS:C1837098 "Easy fatigability" is_a: HP:0004302 ! Functional motor problems. is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0003390 name: Sensory axonal neuropathy alt_id: HP:0006883 alt_id: HP:0007248 alt_id: HP:0007345 def: "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] synonym: "Axonal sensory neuropathy" EXACT [] synonym: "Peripheral sensory axonal neuropathy" RELATED [] xref: UMLS:C1842587 "Sensory axonal neuropathy" is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0003391 name: Gowers sign def: "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] synonym: "Gower sign" EXACT [] synonym: "Positive Gower sign" EXACT [] synonym: "Positive Gowers sign" EXACT [] xref: UMLS:C0234182 "Gower sign" is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003392 name: First dorsal interossei muscle weakness xref: UMLS:C1832277 "First dorsal interossei muscle weakness" is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003393 name: Thenar muscle atrophy xref: UMLS:C1864715 "Thenar muscle atrophy" is_a: HP:0009130 ! Hand muscle atrophy [Term] id: HP:0003394 name: Muscle cramps alt_id: HP:0009018 def: "Sudden and involuntary contractions of one or more muscles." [HPO:probinson] xref: MeSH:D009120 "Muscle Cramp" xref: UMLS:C0026821 "Cramps" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003396 name: Syringomyelia alt_id: HP:0006933 def: "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord." [HPO:sdoelken] xref: MeSH:D013595 "Syringomyelia" xref: UMLS:C0039144 "Syringomyelia" is_a: HP:0100561 ! Spinal cord lesions [Term] id: HP:0003397 name: Generalized hypotonia due to defect at the neuromuscular junction is_a: HP:0001290 ! Generalized hypotonia is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003398 name: Abnormal synaptic transmission at the neuromuscular junction def: "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers." [HPO:probinson] synonym: "Abnormality of neuromuscular transmission" RELATED [] is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission [Term] id: HP:0003400 name: Basal lamina 'onion bulb' formation def: "A type of onion bulb formation prominently affecting the area of the basal lamina." [HPO:probinson] synonym: "Basal lamina 'onion bulb' formations on nerve biopsy" EXACT [] is_a: HP:0003383 ! Onion bulb formation property_value: HP:0040005 "A type of `onion bulb formation` (HP:0003383) prominently affecting the area of the basal lamina." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003401 name: Paresthesia alt_id: HP:0002082 def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:probinson] synonym: "Paresthesias" EXACT [] xref: MeSH:D010292 "Paresthesia" xref: UMLS:C2242996 "paresthesia" is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003402 name: Decreased miniature endplate potentials def: "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson] comment: Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft. synonym: "Decreased miniature endplate potentials (MEPP)" EXACT [] synonym: "Small miniature endplate currents" EXACT [] synonym: "Small miniature endplate potentials" EXACT [] is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003403 name: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation alt_id: HP:0003430 alt_id: HP:0003478 def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation." [HPO:probinson] comment: The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP. synonym: "EMG: decrement at repetitive stimulation" RELATED [] synonym: "EMG: decremental response of CMAP to repetitive nerve stimulation" EXACT [] is_a: HP:0100285 ! EMG: impaired neuromuscular transmission [Term] id: HP:0003405 name: Diffuse axonal swelling is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003406 name: Peripheral nerve compression xref: UMLS:C1851414 "Peripheral nerve compression" is_a: HP:0045010 ! Abnormality of peripheral nerves [Term] id: HP:0003409 name: Distal sensory impairment of all modalities synonym: "Distal sensory loss to all modalities" EXACT [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003411 name: Irregular proximal femoral metaphyses xref: UMLS:C1836320 "Irregular proximal femoral metaphyses" is_a: HP:0003025 ! Metaphyseal irregularity is_a: HP:0003366 ! Abnormality of the femoral neck or head region is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0003413 name: Atlantoaxial abnormality def: "An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae." [HPO:probinson] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003414 name: Atlantoaxial dislocation def: "Partial dislocation of the atlantoaxial joint." [HPO:curators] synonym: "Atlanto-axial subluxation" EXACT [] synonym: "Atlantoaxial subluxation" EXACT [] xref: UMLS:C1388934 "Atlantoaxial dislocation" is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003416 name: Spinal canal stenosis alt_id: HP:0008446 def: "An abnormal narrowing of the spinal canal." [HPO:probinson] comment: Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. subset: hposlim_core synonym: "Narrow spinal canal" EXACT [] synonym: "Spinal stenosis" EXACT [] xref: MeSH:D013130 "Spinal Stenosis" xref: SNOMEDCT:76107001 "Spinal stenosis" xref: UMLS:C0037944 "Spinal Stenosis" xref: UMLS:C1861329 "Spinal canal stenosis" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003417 name: Coronal cleft vertebrae alt_id: HP:0003673 def: "Frontal schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson] comment: Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. synonym: "coronal cleft of vertebrae" EXACT [] synonym: "Coronal clefts" EXACT [] synonym: "Coronal vertebral clefts" EXACT [] synonym: "Vertebral coronal clefts" EXACT [] xref: UMLS:C1859137 "Coronal cleft vertebrae" is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003418 name: Back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back." [] xref: MeSH:D001416 "Back Pain" xref: UMLS:C1963071 "Back pain" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003419 name: Low back pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back." [] synonym: "Lower back pain" EXACT [] xref: MeSH:D017116 "Low Back Pain" xref: UMLS:C0024031 "Low Back Pain" is_a: HP:0003418 ! Back pain [Term] id: HP:0003421 name: Platyspondyly (childhood) is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0003422 name: Vertebral segmentation defect alt_id: HP:0005705 def: "An abnormality related to a defect of vertebral separation during development." [HPO:probinson, pmid:23653580] subset: hposlim_core synonym: "Abnormal spinal segmentation" EXACT [] xref: SNOMEDCT:205455005 "Defect of vertebral segmentation" xref: UMLS:C0432163 "Vertebral segmentation defects" is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0003423 name: Thoracolumbar kyphoscoliosis synonym: "Dorsolumbar kyphosis" EXACT [] xref: UMLS:C1859335 "Thoracolumbar kyphoscoliosis" is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0002944 ! Thoracolumbar scoliosis is_a: HP:0005619 ! Thoracolumbar kyphosis [Term] id: HP:0003426 name: First dorsal interossei muscle atrophy xref: UMLS:C1832278 "First dorsal interossei muscle atrophy" is_a: HP:0007181 ! Interosseus muscle atrophy [Term] id: HP:0003427 name: Thenar muscle weakness xref: UMLS:C1832276 "Thenar muscle weakness" is_a: HP:0030237 ! Hand muscle weakness [Term] id: HP:0003429 name: CNS hypomyelination def: "Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis." [HPO:probinson] synonym: "hypomyelination" RELATED [] xref: UMLS:C0544820 "Hypomyelination" is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0003431 name: Decreased motor nerve conduction velocity alt_id: HP:0000760 alt_id: HP:0003379 alt_id: HP:0003395 alt_id: HP:0003437 alt_id: HP:0006907 alt_id: HP:0008170 def: "A type of decreased nerve conduction velocity that affects the motor neuron." [HPO:probinson] comment: Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers. synonym: "Decreased motor nerve conduction velocities (NCV)" EXACT [] synonym: "Decreased motor nerve conduction velocity (NCV)" EXACT [] synonym: "Reduced motor nerve conduction velocity" EXACT [] xref: UMLS:C1854030 "Reduced motor nerve conduction velocity" is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040131 ! Abnormal motor nerve conduction velocity property_value: HP:0040005 "A type of decreased nerve conduction velocity that affects the `motor neuron` (FMA:83617)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003434 name: Sensory ataxic neuropathy xref: UMLS:C1843859 "Sensory ataxic neuropathy" is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003435 name: Cold-induced hand cramps xref: UMLS:C1832279 "Cold-induced hand cramps" is_a: HP:0003449 ! Cold-induced muscle cramps [Term] id: HP:0003436 name: Prolonged miniature endplate currents alt_id: HP:0003479 def: "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson] synonym: "Prolonged miniature endplate currents (MEPC)" EXACT [] synonym: "Prolonged miniature endplate potentials" EXACT [] synonym: "Prolonged miniature endplate potentials (MEPP)" EXACT [] is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003438 name: Absent Achilles reflex alt_id: HP:0007032 alt_id: HP:0007241 def: "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson] synonym: "Absent ankle reflexes" EXACT [] xref: UMLS:C0558845 "Absent ankle reflexes" is_a: HP:0200101 ! Decreased/absent ankle reflexes [Term] id: HP:0003440 name: Horizontal sacrum subset: hposlim_core xref: UMLS:C1850558 "Horizontal sacrum" is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0003443 name: Decreased size of nerve terminals def: "A reduction in the size of nerve terminals." [HPO:probinson] comment: Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy. is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0003444 name: EMG: chronic denervation signs alt_id: HP:0007059 def: "Evidence of chronic denervation on electromyography." [HPO:probinson] comment: This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed. is_a: HP:0003445 ! EMG: neuropathic changes [Term] id: HP:0003445 name: EMG: neuropathic changes alt_id: HP:0002178 alt_id: HP:0002547 alt_id: HP:0007279 def: "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [HPO:probinson] comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. synonym: "EMG: neurogenic abnormalities" EXACT [] synonym: "EMG: neurogenic changes" EXACT [] synonym: "EMG: neurogenic findings" EXACT [] is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003447 name: Axonal loss alt_id: HP:0003360 def: "A reduction in the number of axons in the peripheral nervous system." [DDD:probinson] comment: This finding can be observed upon nerve biopsy. xref: UMLS:C1832338 "Axonal loss" is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003448 name: Decreased sensory nerve conduction velocity alt_id: HP:0006914 def: "Reduced speed of conduction of the action potential along a sensory nerve." [HPO:probinson] comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse. synonym: "Decreased sensory nerve conduction velocities" EXACT [] synonym: "Decreased sensory nerve conduction velocities (NCV)" EXACT [] is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040132 ! Abnormal sensory nerve conduction velocity [Term] id: HP:0003449 name: Cold-induced muscle cramps def: "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures." [HPO:probinson] xref: UMLS:C1861675 "Cold-induced muscle cramps" is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0003450 name: Axonal regeneration def: "The presence of axonal regeneration following a previous axonal lesion." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information. synonym: "Regenerative activity on nerve biopsy" EXACT [] is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003451 name: Increased rate of premature chromosome condensation def: "An increased rate of premature chromosome condensation." [HPO:probinson] xref: UMLS:C1847344 "Premature chromosome condensation" is_a: HP:0011019 ! Abnormality of chromosome condensation property_value: HP:0040005 "An increased rate of `premature` (PATO:0000694) `chromosome condensation` (GO:0030261)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003452 name: Increased serum iron xref: UMLS:C0151900 "Increased serum iron" is_a: HP:0040130 ! Abnormal serum iron [Term] id: HP:0003453 name: Antineutrophil antibody positivity def: "The presence of autoantibodies in the serum that react against neutrophils." [HPO:probinson] comment: Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. synonym: "Antineutrophil antibodies" EXACT [] synonym: "Neutrophil antibody positive" EXACT [] xref: MeSH:D019268 "Antibodies, Antineutrophil Cytoplasmic" xref: UMLS:C1858981 "Neutrophil antibody positive" is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003454 name: Platelet antibody positive def: "The presence in the serum of autoantibodies directed against thrombocytes." [HPO:probinson] synonym: "Platelet antibody" EXACT [] xref: UMLS:C1858980 "Platelet antibody positive" is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003455 name: Elevated long chain fatty acids alt_id: HP:0008333 def: "Increased concentration of long-chain fatty acid." [HPO:probinson] comment: This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes. xref: UMLS:C1859241 "Elevated long chain fatty acids" is_a: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism property_value: HP:0040005 "Increased concentration of `long-chain fatty acid` (CHEBI:15904)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003456 name: Low urinary cyclic AMP response to PTH administration is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003457 name: EMG abnormality alt_id: HP:0002177 alt_id: HP:0003751 alt_id: HP:0003753 alt_id: HP:0100286 def: "Abnormal results of investigations using electromyography (EMG)." [HPO:probinson, pmid:18751841] synonym: "Abnormal electromyography finding" EXACT [] synonym: "Abnormal EMG" EXACT [] synonym: "Electromyogram abnormal" EXACT [] synonym: "EMG abnormalities" EXACT [] xref: UMLS:C0476403 "Abnormal EMG" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003458 name: EMG: myopathic abnormalities alt_id: HP:0003322 alt_id: HP:0003711 alt_id: HP:0009021 def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] synonym: "EMG: myopathic changes" EXACT [] synonym: "EMG: myopathy" EXACT [] synonym: "Myopathic electromyogram" EXACT [] is_a: HP:0003198 ! Myopathy is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003459 name: Polyclonal elevation of IgM is_a: HP:0003496 ! Increased IgM level [Term] id: HP:0003460 name: Total immunoglobulin A deficiency def: "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L)." [HPO:probinson] xref: UMLS:C1843528 "Markedly reduced IgA levels" is_a: HP:0002720 ! IgA deficiency [Term] id: HP:0003461 name: Increased urinary O-linked sialopeptides def: "Excretion of peptides conjugated to sialic acid in the urine." [HPO:probinson] xref: UMLS:C1836533 "Increased urinary O-linked sialopeptides" is_a: HP:0012067 ! Glycopeptiduria property_value: HP:0040005 "Excretion of peptides conjugated to `sialic acid` (CHEBI:26667) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003462 name: Elevated 8-dehydrocholesterol is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003463 name: Increased extraneuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682] synonym: "Lipopigment in extraneuronal cells" RELATED [] is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0003464 name: Abnormal cholesterol homeostasis xref: UMLS:C1843372 "Abnormal cholesterol homeostasis" is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003465 name: Elevated 8(9)-cholestenol is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003466 name: Paradoxical increased cortisol secretion on dexamethasone suppression test is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0003467 name: Atlantoaxial instability def: "Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly." [HPO:probinson] comment: Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord. subset: hposlim_core xref: UMLS:C0410653 "Atlantoaxial instability" is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003468 name: Abnormality of the vertebrae alt_id: HP:0005719 def: "An abnormality of one or more of the vertebrae." [HPO:probinson] comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). synonym: "ABNORMAL VERTEBRAE" EXACT [] synonym: "Abnormal vertebral bodies" RELATED [] synonym: "MULTIPLE VERTEBRAL ANOMALIES" RELATED [HPO:skoehler] synonym: "Vertebral anomalies" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "An abnormality of one or more of the `vertebrae` (FMA:9914)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003469 name: Peripheral dysmyelination def: "Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. " [HPO:probinson] is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003470 name: Paralysis def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] xref: MeSH:D010243 "Paralysis" xref: UMLS:C0522224 "Paralysis" is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0003472 name: Hypocalcemic tetany def: "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms." [HPO:probinson] xref: UMLS:C0151940 "Hypocalcaemic tetany" is_a: HP:0002901 ! Hypocalcemia is_a: HP:0012638 ! Abnormality of nervous system physiology [Term] id: HP:0003473 name: Fatigable weakness alt_id: HP:0003399 alt_id: HP:0003428 alt_id: HP:0100794 def: "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson] comment: This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. synonym: "Fatigable weakness of limb muscles" EXACT [] synonym: "Generalized muscle weakness due to defect at the neuromuscular junction" EXACT [] synonym: "Myasthenia" EXACT [] synonym: "Myasthenic weakness" EXACT [] synonym: "Proximal muscle weakness due to defect at the neuromuscular junction" EXACT [] is_a: HP:0001324 ! Muscle weakness is_a: HP:0003398 ! Abnormal synaptic transmission at the neuromuscular junction [Term] id: HP:0003474 name: Sensory impairment alt_id: HP:0100964 def: "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hyesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." [HPO:probinson] comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. synonym: "Hypoaesthesia" EXACT [] synonym: "Hypoesthesia" EXACT [] xref: UMLS:C1850002 "Sensory impairment" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003477 name: Peripheral axonal neuropathy alt_id: HP:0006814 alt_id: HP:0006842 alt_id: HP:0007169 alt_id: HP:0008304 def: "An abnormality characterized by disruption of the normal functioning of peripheral axons." [HPO:probinson] comment: This abnormality can be assay by electromyography (EMG) or by nerve biopsy. synonym: "Axonal neuropathy" EXACT [] synonym: "Axonal peripheral neuropathy" EXACT [] xref: UMLS:C0270921 "Axonal neuropathy" xref: UMLS:C1263857 "Peripheral axonal neuropathy" is_a: HP:0000764 ! Peripheral axonal degeneration is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003481 name: Segmental peripheral demyelination/remyelination alt_id: HP:0003425 def: "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves." [HPO:probinson] synonym: "Segmental demyelination/remyelination" EXACT [] is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0003482 name: EMG: axonal abnormality def: "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials." [HPO:probinson] comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003484 name: Upper limb muscle weakness def: "Weakness of the muscles of the arms." [HPO:probinson] is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0003487 name: Babinski sign alt_id: HP:0001352 def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] comment: A positive Babinski sign can indicate damage to the corticospinal tract. synonym: "Extensor plantar reflexes" EXACT [] synonym: "Extensor plantar response" EXACT [] synonym: "Extensor plantar responses" EXACT [] xref: MeSH:D001405 "Reflex, Babinski" xref: UMLS:C0034935 "Extensor Plantar Response" is_a: HP:0007256 ! Abnormal pyramidal signs [Term] id: HP:0003489 name: Acute episodes of neuropathic symptoms comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003490 name: Defective dehydrogenation of isovaleryl CoA and butyryl CoA comment: Isovaleryl CoA is an intermediate product in the catabolism of leucine. Butyryl CoA is an intermediate in fatty acid degradation and in biosynthesis. is_a: HP:0004357 ! Abnormality of leucine metabolism is_a: HP:0004359 ! Abnormality of fatty-acid metabolism [Term] id: HP:0003491 name: Elevated urine pyrophosphate def: "An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "An abnormally increased `diphosphate(4-)` (CHEBI:18361) concentration in the `urine` (FMA:12274). Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003492 name: High urinary gonadotropins (primary hypogonadism) is_a: HP:0012029 ! Abnormality of urine hormone level [Term] id: HP:0003493 name: Antinuclear antibody positivity def: "The presence of autoantibodies in the serum that react against nuclei or nuclear components." [HPO:probinson] comment: Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. synonym: "Antinuclear antibodies" EXACT [] synonym: "Antinuclear antibody positive" EXACT [] synonym: "Elevated antinuclear antibody" EXACT [] synonym: "Serum antinuclear antibody" EXACT [] xref: MeSH:D000974 "Antibodies, Antinuclear" xref: UMLS:C0151480 "Antinuclear antibody positive" is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003494 name: obsolete Loss of heterozygosity, multiple chromosomes is_obsolete: true consider: HP:0001428 [Term] id: HP:0003495 name: GM2-ganglioside accumulation xref: UMLS:C1848920 "Gm2-ganglioside accumulation" is_a: HP:0004345 ! Abnormality of ganglioside metabolism [Term] id: HP:0003496 name: Increased IgM level alt_id: HP:0002962 def: "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson] synonym: "Increased IgM levels" EXACT [] synonym: "Increased levels of IgM" EXACT [] xref: UMLS:C1839972 "Increased IgM levels" is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003498 name: Disproportionate short stature alt_id: HP:0008895 alt_id: HP:0008900 def: "A kind of short stature in which different regions of the body are shortened to differing extents." [HPO:probinson] synonym: "Short stature, disproportionate" EXACT [] synonym: "SHORT STATURE, SEVERE DISPROPORTIONATE" RELATED [HPO:skoehler] is_a: HP:0004322 ! Short stature property_value: HP:0040005 "A kind of `short stature` (HP:0004322) in which different regions of the body are shortened to differing extents." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003502 name: Mild short stature alt_id: HP:0003503 alt_id: HP:0008879 alt_id: HP:0008908 def: "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." [DDD:hfirth] synonym: "Relative short stature" RELATED [] synonym: "short stature, mild" EXACT [HPO:skoehler] xref: UMLS:C1833000 "Mild short stature" is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003508 name: Proportionate short stature alt_id: HP:0003499 def: "A kind of short stature in which different regions of the body are shortened to a comparable extent." [HPO:probinson] synonym: "Proportionate small stature" EXACT [] synonym: "Short stature, proportionate" EXACT [] is_a: HP:0004322 ! Short stature property_value: HP:0040005 "A kind of `short stature` (HP:0004322) in which different regions of the body are shortened to a comparable extent." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003510 name: Severe short stature alt_id: HP:0001424 alt_id: HP:0001516 alt_id: HP:0003504 alt_id: HP:0008867 alt_id: HP:0008884 alt_id: HP:0008907 alt_id: HP:0008920 alt_id: HP:0008930 def: "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [HPO:probinson] comment: The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). synonym: "Dwarfism" EXACT [] synonym: "Proportionate dwarfism" EXACT [] synonym: "Short stature, severe" EXACT [HPO:skoehler] xref: UMLS:C0013336 "Dwarfism" xref: UMLS:C1855090 "Proportionate dwarfism" is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003513 name: Reduced ratio of renal calcium clearance to creatinine clearance def: "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01." [HPO:probinson] is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0003514 name: Deficiency or absence of cytochrome b(-245) synonym: "Deficiency or absence of cytochrome b" EXACT [] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003517 name: Birth length greater than 97th percentile is_a: HP:0000098 ! Tall stature [Term] id: HP:0003521 name: Disproportionate short-trunk short stature alt_id: HP:0001524 alt_id: HP:0003500 alt_id: HP:0008923 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs." [HPO:probinson] synonym: "Disproportionate short-trunked dwarfism" EXACT [] synonym: "Disproportionate short-trunked short stature" EXACT [] synonym: "Short trunk" EXACT [] synonym: "Short-trunked dwarfism" EXACT [] xref: UMLS:C0521527 "Short trunk" xref: UMLS:C1854763 "Short-trunked dwarfism" is_a: HP:0003498 ! Disproportionate short stature is_a: HP:0009121 ! Abnormal axial skeleton morphology property_value: HP:0040005 "A type of `disproportionate short stature` (HP:0003498) characterized by a short trunk but a average-sized limbs." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003524 name: Decreased methionine synthase activity def: "A reduction in methionine synthase activity." [HPO:probins] comment: Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine. synonym: "Decreased activity of methionine synthase" EXACT [] synonym: "Decreased methionine synthase (MTR, 156570) activity" EXACT [] synonym: "Methionine synthase deficiency" EXACT [] synonym: "Methionine synthetase activity decreased" EXACT [] xref: UMLS:C0268611 "methionine synthase deficiency" is_a: HP:0010901 ! Abnormality of methionine metabolism property_value: HP:0040005 "A reduction in `methionine synthase activity` (GO:0008705)." xsd:string {xref="HPO:probins"} [Term] id: HP:0003526 name: Orotic acid crystalluria def: "Formation of crystals owing to an increased concentration of orotic acid in the urine (FMA:12274)." [HPO:probinson] is_a: HP:0010928 ! Abnormality of orotic acid metabolism property_value: HP:0040005 "Formation of crystals owing to an increased concentration of `orotic acid` (CHEBI:16742) in the urine (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003527 name: Hyperprostaglandinuria def: "An increased concentration of prostaglandin in the urine." [HPO:probinson] xref: UMLS:C1866498 "Hyperprostaglandinuria" is_a: HP:0011023 ! Abnormality of prostaglandin metabolism property_value: HP:0040005 "An increased concentration of `prostaglandin` (CHEBI:26333) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003528 name: Elevated calcitonin comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. xref: UMLS:C1868394 "Elevated calcitonin" is_a: HP:0100530 ! Abnormality of calcium-phosphate metabolism [Term] id: HP:0003529 name: Parathormone-independent increased renal tubular calcium reabsorption def: "An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels." [HPO:probinson, pmid:23802516] comment: This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis. is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003530 name: Glutaric acidemia def: "An increased concentration of glutaric acid in the blood." [HPO:gcarletti] xref: UMLS:C0268030 "Acidaemia" is_a: HP:0001941 ! Acidosis is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism property_value: HP:0040005 "An increased concentration of `glutaric acid` (CHEBI:17859) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003532 name: Ornithinuria def: "An increased concentration of ornithine in the urine." [HPO:probinson] is_a: HP:0003355 ! Aminoaciduria property_value: HP:0040005 "An increased concentration of `ornithine` (CHEBI:18257) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003533 name: Delayed oxidation of acetaldehyde comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003534 name: Reduced xanthine dehydrogenase activity def: "An abnormal reduction in xanthine dehydrogenase activity." [HPO:probinson] comment: This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+. synonym: "Xanthine dehydrogenase deficiency" RELATED [] xref: UMLS:C0268118 "XANTHINE DEHYDROGENASE DEFICIENCY" is_a: HP:0010933 ! Abnormality of xanthine metabolism property_value: HP:0040005 "An abnormal reduction in `xanthine dehydrogenase activity` (GO:0004854)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003535 name: 3-Methylglutaconic aciduria comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. xref: UMLS:C0278026 "Aciduria" is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003536 name: Decreased fumarate hydratase activity def: "An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity." [HPO:probinson] comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. xref: UMLS:C1853903 "Decreased fumarate hydratase activity" is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism property_value: HP:0040005 "An `abnormality of Krebs cycle metabolism` (HP:0000816) that is characterized by a `decreased rate` (PATO:0000911) of `fumarate hydratase activity` (GO:0004333)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003537 name: Hypouricemia def: "An abnormally low level of uric acid in the blood." [HPO:curators] xref: UMLS:C0221333 "Hypouricaemia" is_a: HP:0012610 ! Abnormality of urinary uric acid concentration [Term] id: HP:0003538 name: Increased serum iduronate sulfatase activity def: "An increased rate of iduronate-2-sulfatase activity in the blood." [HPO:probinson] comment: Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta. synonym: "Increased serum iduronate sulfatase (10-20x)" RELATED [] is_a: HP:0004355 ! Abnormality of proteoglycan metabolism property_value: HP:0040005 "An `increased rate` (PATO:0000912) of `iduronate-2-sulfatase activity`(GO:0004423) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003540 name: Impaired platelet aggregation alt_id: HP:0008177 def: "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [DDD:wouwehand] synonym: "Abnormal platelet aggregation" EXACT [] synonym: "Defective platelet aggregation" EXACT [] synonym: "Deficient platelet aggregation" EXACT [] synonym: "Platelet aggregation defect" EXACT [] xref: UMLS:C0541767 "Abnormal platelet aggregation" is_a: HP:0011869 ! Abnormal platelet function [Term] id: HP:0003541 name: Urinary glycosaminoglycan excretion def: "Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism property_value: HP:0040005 "Excretion of `glycosaminoglycan` (CHEBI:18085) in the `urine` (FMA:12274). Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003542 name: Increased serum pyruvate def: "An increased concentration of pyruvate in the blood." [HPO:gcarletti] comment: An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle. xref: UMLS:C1849488 "Increased serum pyruvate" is_a: HP:0004366 ! Abnormality of glycolysis property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `pyruvate` (CHEBI:15361) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003546 name: Exercise intolerance xref: UMLS:C0241885 "Exercise intolerance" is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003547 name: Shoulder girdle muscle weakness alt_id: HP:0003695 alt_id: HP:0009009 def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] synonym: "Muscle weakness, shoulder-girdle" EXACT [] synonym: "Shoulder girdle weakness" EXACT [] synonym: "Shoulder weakness" EXACT [] xref: UMLS:C0241035 "Shoulder girdle muscle weakness" is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003548 name: Subsarcolemmal accumulations of abnormally shaped mitochondria def: "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology." [HPO:probinson] comment: This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies. is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003549 name: Abnormality of connective tissue def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [HPO:curators] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0003550 name: Predominantly lower limb lymphedema def: "Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs." [HPO:probinson] is_a: HP:0001004 ! Lymphedema property_value: HP:0040005 "Localized fluid retention and tissue swelling caused by a compromised `lymphatic system` (FMA:7162), affecting mainly the legs." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003551 name: Difficulty climbing stairs alt_id: HP:0007019 def: "Reduced ability to climb stairs." [HPO:probinson] synonym: "Difficulty walking up stairs" EXACT [] is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003552 name: Muscle stiffness alt_id: HP:0009014 def: "A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [HPO:probinson] xref: UMLS:C0221170 "Muscle stiffness" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003553 name: Cellulitis due to immunodeficiency def: "The presence of cellulitis (a diffuse inflammation of connective tissue) on the basis of an immunodeficiency." [HPO:curators] is_a: HP:0002721 ! Immunodeficiency is_a: HP:0100658 ! Cellulitis [Term] id: HP:0003554 name: Type 2 muscle fiber atrophy def: "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson] comment: This finding can be demonstrated by muscle biopsy. synonym: "Type 2 fiber atrophy" EXACT [] is_a: HP:0100295 ! Muscle fiber atrophy [Term] id: HP:0003555 name: Muscle fiber splitting def: "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177] synonym: "Fiber splitting" EXACT [] synonym: "Fibre splitting" EXACT [] synonym: "Muscle fibre splitting" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003557 name: Increased variability in muscle fiber diameter alt_id: HP:0003556 def: "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] comment: This finding can be demonstrated by muscle biopsy. synonym: "Increased fiber size variation" EXACT [] synonym: "Increased variability in muscle fiber size" EXACT [] synonym: "Increased variation in fiber size" EXACT [] synonym: "Increased variation in muscle fiber size" EXACT [] synonym: "Variation in muscle fiber size" EXACT [] xref: UMLS:C1850833 "Increased fiber size variation" is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003558 name: Viral infection-induced rhabdomyolysis def: "Rhabdomyolysis induced by a viral infection." [HPO:probinson] is_a: HP:0003201 ! Rhabdomyolysis property_value: HP:0040005 "`Rhabdomyolysis` (HP:0003201) induced by a viral infection." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003559 name: Muscle hyperirritability xref: UMLS:C1853701 "Muscle hyperirritability" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003560 name: Muscular dystrophy alt_id: HP:0003544 alt_id: HP:0003806 def: "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities." [HPO:probinson, Neuromics:vstraub] comment: Muscular dystrophy can be demonstrated by muscle biopsy. synonym: "MUSCLE BIOPSY SHOWS DYSTROPHIC CHANGES" RELATED [HPO:skoehler] xref: MeSH:D009136 "Muscular Dystrophies" xref: UMLS:C0026850 "Muscular Dystrophy" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003561 name: Birth length less than 3rd percentile synonym: "Birth length < 3rd percentile" EXACT [] synonym: "Birth length <3rd percentile" EXACT [] is_a: HP:0004322 ! Short stature [Term] id: HP:0003562 name: Abnormal metaphyseal vascular invasion is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003563 name: Hypobetalipoproteinemia def: "An decreased concentration of low-density lipoprotein cholesterol in the blood." [HPO:gcarletti] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. synonym: "Decreased LDL" RELATED [] xref: UMLS:C0020597 "Hypobetalipoproteinemia" is_a: HP:0010981 ! Hypolipoproteinemia property_value: HP:0040005 "An decreased concentration of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003564 name: Folate-dependent fragile site at Xq28 def: "The presence of a folate sensitive fragile site at chromosome Xq28." [HPO:probinson] comment: Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA). is_a: HP:0003220 ! Abnormality of chromosome stability [Term] id: HP:0003565 name: Elevated erythrocyte sedimentation rate synonym: "Elevated sedimentation rate" EXACT [] synonym: "High erythrocyte sedimentation rate" EXACT [] synonym: "Increased erythrocyte sedimentation rate" EXACT [] synonym: "Raised erythrocyte sedimentation rate" EXACT [] xref: UMLS:C0151632 "Elevated erythrocyte sedimentation rate" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003566 name: Increased serum prostaglandin E2 alt_id: HP:0008298 def: "An increased concentration of prostaglandin E2 in the blood." [HPO:probinson] synonym: "Elevated prostaglandin e2" EXACT [] is_a: HP:0011023 ! Abnormality of prostaglandin metabolism property_value: HP:0040005 "An increased concentration of `prostaglandin E2` (CHEBI:15551) in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003568 name: Decreased glucosephosphate isomerase activity alt_id: HP:0003290 def: "A decreased rate of glucose-6-phosphate isomerase activity." [HPO:gcarletti] comment: Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9). synonym: "Glucosephosphate isomerase deficiency" EXACT [] synonym: "Phosphohexose isomerase deficiency" EXACT [] is_a: HP:0004366 ! Abnormality of glycolysis property_value: HP:0040005 "A `decreased rate` (PATO:0000911) of `glucose-6-phosphate isomerase activity` (GO:0004347)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003570 name: Molybdenum cofactor deficiency def: "Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase." [HPO:probinson] xref: UMLS:C0268119 "Molybdenum cofactor deficiency" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "Absence of `molybdenum cofactor(2-)` (CHEBI:60525), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003571 name: Propionicacidemia is_a: HP:0001941 ! Acidosis [Term] id: HP:0003572 name: Low plasma citrulline def: "A decreased concentration of citrulline in the blood." [HPO:gcarletti] xref: UMLS:C1839532 "Low plasma citrulline" is_a: HP:0011965 ! Abnormality of citrulline metabolism property_value: HP:0040005 "A decreased concentration of `citrulline` (CHEBI:18211) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003573 name: Increased total bilirubin alt_id: HP:0008168 def: "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood." [HPO:probinson] synonym: "Increased bilirubin" EXACT [] xref: UMLS:C0741494 "Increased total bilirubin" is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003574 name: Positive regitine blocking test def: "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension." [HPO:probinson] comment: Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites. is_a: HP:0002640 ! Hypertension associated with pheochromocytoma [Term] id: HP:0003575 name: Increased intracellular sodium def: "An abnormally increased sodium concentration in the cytosol." [HPO:gcarletti] is_a: HP:0010931 ! Abnormality of sodium homeostasis property_value: HP:0040005 "An abnormally increased `sodium` (CHEBI:29101) concentration in the `cytosol` (FMA:66836)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003577 name: Congenital onset alt_id: HP:0003595 alt_id: HP:0003601 alt_id: HP:0003624 alt_id: HP:0003660 alt_id: HP:0003666 def: "A phenotypic abnormality that is present at birth." [HPO:probinson] comment: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. synonym: "Intrauterine onset" EXACT [] synonym: "Onset at birth" EXACT [] synonym: "Onset in utero" EXACT [] synonym: "Prenatal onset" RELATED [HPO:curators] is_a: HP:0003674 ! Onset [Term] id: HP:0003581 name: Adult onset alt_id: HP:0003585 alt_id: HP:0003598 alt_id: HP:0003627 alt_id: HP:0003662 alt_id: HP:0003669 def: "Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later." [HPO:probinson] synonym: "Onset in adulthood" EXACT [] synonym: "Onset in early adulthood" EXACT [] is_a: HP:0003674 ! Onset [Term] id: HP:0003584 name: Late onset def: "A type of adult onset with onset of symptoms after the age of 60 years." [HPO:probinson] is_a: HP:0003581 ! Adult onset property_value: HP:0040005 "A type of `adult onset` with onset of symptoms after the age of 60 years." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003587 name: Insidious onset def: "Gradual, very slow onset of disease manifestations." [HPO:probinson] xref: UMLS:C1298634 is_a: HP:0011008 ! Termporal pattern [Term] id: HP:0003593 name: Infantile onset alt_id: HP:0003576 alt_id: HP:0003579 alt_id: HP:0003591 alt_id: HP:0003594 alt_id: HP:0003599 alt_id: HP:0003600 alt_id: HP:0003629 alt_id: HP:0003631 alt_id: HP:0003667 alt_id: HP:0003672 alt_id: HP:0010573 def: "Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson] comment: Onset of signs or symptoms of disease within the first 24 months of life. synonym: "Onset in first year of life" EXACT [] synonym: "Onset in infancy" EXACT [] is_a: HP:0003674 ! Onset [Term] id: HP:0003596 name: Middle age onset def: "A type of adult onset with onset of symptoms at the age of 40 to 60 years." [HPO:probinson] comment: Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. xref: UMLS:C1969363 is_a: HP:0003581 ! Adult onset property_value: HP:0040005 "A type of `adult onset` with onset of symptoms at the age of 40 to 60 years." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003606 name: Absent urinary urothione def: "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine." [HPO:probinson] comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003607 name: 4-Hydroxyphenylacetic aciduria def: "Increased concentration of 4-hydroxyphenylacetic acid in the urine." [HPO:probinson] comment: 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. xref: UMLS:C0278026 "Aciduria" is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism property_value: HP:0040005 "Increased concentration of `4-hydroxyphenylacetic acid` (CHEBI:18101) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003609 name: Foam cells with lamellar inclusion bodies def: "The presence of foam cells that contain lamellar inclusion bodies." [HPO:probinson] comment: Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy. is_a: HP:0003651 ! Foam cells [Term] id: HP:0003610 name: Fibroblast metachromasia def: "Increased cytoplasmic staining of fibroblasts with toluidine blue." [HPO:probinson, pmid:4195824] comment: Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia. is_a: HP:0003653 ! Cellular metachromasia [Term] id: HP:0003612 name: Positive ferric chloride test def: "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood." [HPO:probinson] comment: The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0003613 name: Antiphospholipid antibody positivity def: "The presence of circulating autoantibodies to phospholipids." [HPO:probinson] comment: This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. synonym: "Antiphospholipid antibodies" EXACT [] synonym: "Antiphospholipid antibody" EXACT [] synonym: "Phospholipid antibody positivity" EXACT [] xref: MeSH:D017152 "Antibodies, Antiphospholipid" xref: UMLS:C0162595 "Antiphospholipid Antibody" is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0003614 name: Trimethylaminuria def: "Increased concentration of trimethylamine in the urine." [HPO:probinson] comment: Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. xref: UMLS:C0342739 "Trimethylaminuria" is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "Increased concentration of `trimethylamine` (CHEBI:18139) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003616 name: Premature separation of centromeric heterochromatin is_a: HP:0200024 ! Premature chromatid separation [Term] id: HP:0003621 name: Juvenile onset alt_id: HP:0003578 alt_id: HP:0003580 alt_id: HP:0003582 alt_id: HP:0003583 alt_id: HP:0003589 alt_id: HP:0003592 alt_id: HP:0003604 alt_id: HP:0003619 alt_id: HP:0003620 alt_id: HP:0003625 alt_id: HP:0003659 alt_id: HP:0003661 alt_id: HP:0003670 def: "Onset of signs or symptoms of disease between the age of 5 and 15 years." [HPO:probinson] is_a: HP:0003674 ! Onset [Term] id: HP:0003623 name: Neonatal onset alt_id: HP:0003622 def: "Onset of signs or symptoms of disease within the first 28 days of life." [HPO:probinson] synonym: "Onset in first weeks of life" EXACT [] synonym: "Onset in neonatal period" EXACT [] is_a: HP:0003674 ! Onset [Term] id: HP:0003634 name: Amyoplasia alt_id: HP:0008990 def: "Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [HPO:probinson, Neuromics:vstraub] synonym: "Congenital absence of muscles" EXACT [] is_a: HP:0100854 ! Aplasia of the musculature [Term] id: HP:0003635 name: Loss of subcutaneous adipose tissue in limbs alt_id: HP:0003757 def: "Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg." [HPO:probinson] subset: hposlim_core synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT [] is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0003637 name: Reduced 4-Hydroxyphenylpyruvate dioxygenase activity def: "An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase activity." [HPO:curators] comment: Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria. is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism property_value: HP:0040005 "An abnormal reduction in `4-hydroxyphenylpyruvate dioxygenase activity` (GO:0003868)." xsd:string {xref="HPO:curators"} [Term] id: HP:0003639 name: Elevated urinary epinephrine def: "An increased concentration of adrenaline in the urine." [HPO:probinson] synonym: "Increased urinary epinephrine" EXACT [] xref: UMLS:C1868393 "Increased urinary epinephrine" is_a: HP:0011976 ! Elevated urinary catecholamines property_value: HP:0040005 "An increased concentration of `adrenaline` (CHEBI:33568) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003640 name: Foam cells in visceral organs and CNS is_a: HP:0003651 ! Foam cells [Term] id: HP:0003641 name: Hemoglobinuria def: "The presence of free hemoglobin in the urine." [HPO:probinson] comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. xref: MeSH:D006456 "Hemoglobinuria" xref: UMLS:C1963124 "Hemoglobinuria" is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003642 name: Type I transferrin isoform profile def: "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II." [HPO:probinson, pmid:15105360, pmid:22516080] comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal. synonym: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern)" RELATED [] synonym: "Abnormal isoelectric focusing of serum transferrin, type I pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with CDG type I" EXACT [] is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin [Term] id: HP:0003643 name: Sulfite oxidase deficiency def: "Abnormally reduced sulfite oxidase activity." [HPO:probinson] comment: Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids. xref: UMLS:C0268624 "Sulfite oxidase deficiency" is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism property_value: HP:0040005 "Abnormally reduced `sulfite oxidase activity` (GO:0008482)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003645 name: Prolonged partial thromboplastin time def: "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms." [HPO:probinson] synonym: "Abnormal partial thromboplastin time" EXACT [] synonym: "Delayed thromboplastin generation" EXACT [] synonym: "Partial thromboplastin time prolonged" EXACT [] synonym: "Prolonged activated partial thromboplastin time" EXACT [] xref: UMLS:C0240671 "Prolonged Partial Thromboplastin Time" is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003646 name: Bicarbonaturia def: "Abnormally increased concentration of hydrogencarbonate in the urine." [HPO:probinson] xref: UMLS:C1839865 "Bicarbonaturia" is_a: HP:0011279 ! Abnormality of urine bicarbonate concentration property_value: HP:0040005 "Abnormally increased concentration of `hydrogencarbonate` (CHEBI:17544) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003647 name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003648 name: Lacticaciduria def: "An increased concentration of lactic acid in the urine." [HPO:probinson] is_a: HP:0003128 ! Lactic acidosis is_a: HP:0003355 ! Aminoaciduria property_value: HP:0040005 "An increased concentration of `lactic acid` (CHEBI:28358) in the urine." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003649 name: Abnormality of glycoside metabolism def: "Abnormality of glycoside metabolism." [HPO:probinson] comment: Glycosides are molecules with a suger moiety bound to some other moiety. is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "Abnormality of `glycoside` (CHEBI:24400) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-08T08:32:00Z [Term] id: HP:0003651 name: Foam cells alt_id: HP:0003650 def: "The presence of foam cells, which cells in an atheroma that can be derived from either macrophages or smooth muscle cells that have taken up modified low density lipoprotein particles and thereby take on a foamy appearance." [HPO:probinson] comment: Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. synonym: "Presence of foam cells" EXACT [] xref: MeSH:D005487 "Foam Cells" is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0003652 name: Recurrent myoglobinuria alt_id: HP:0008313 def: "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue." [HPO:probinson] synonym: "Myoglobinuria, episodic" EXACT [] synonym: "Myoglobinuria, recurrent" EXACT [HPO:skoehler] is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0003653 name: Cellular metachromasia def: "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans." [HPO:probinson, pmid:4195824] comment: This investigation is no longer in common use. is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism [Term] id: HP:0003654 name: Reduced dihydropyrimidine dehydrogenase activity def: "An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity." [HPO:gcarletti] comment: Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides. synonym: "Dihydropyrimidine dehydrogenase deficiency" RELATED [] xref: UMLS:C1366555 "DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY" is_a: HP:0004353 ! Abnormality of pyrimidine metabolism property_value: HP:0040005 "An abnormal reduction in `dihydropyrimidine dehydrogenase (NADP+) activity` (GO:0017113)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003655 name: Reduced activity of N-acetylglucosaminyltransferase II def: "An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity." [HPO:gcarletti] synonym: "Deficient N-acetylglucosaminyltransferase II" EXACT [] is_a: HP:0004367 ! Abnormality of glycoprotein metabolism property_value: HP:0040005 "An `abnormality of glycoprotein metabolism` (HP:0004367) related to a `decreased rate` (PATO:0000911) of `alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity` (GO:0008455)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003656 name: Decreased beta-glucocerebrosidase protein and activity comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides. is_a: HP:0004344 ! Abnormality of cerebrosidase metabolism [Term] id: HP:0003657 name: Granular osmiophilic deposits (GROD) in cells is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003658 name: Hypomethioninemia def: "A decreased concentration of methionine in the blood." [HPO:gcarletti] comment: Normal methionine blood levels are around 30 micromole per liter. synonym: "Decreased plasma methionine" EXACT [] synonym: "Decreased serum methionine" EXACT [] xref: UMLS:C1848555 "Decreased serum methionine" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010901 ! Abnormality of methionine metabolism property_value: HP:0040005 "A decreased concentration of `methionine` (CHEBI:16811) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0003665 name: Amyotrophy of the musculature of the pelvis def: "Muscular atrophy affecting the muscles of the pelvis." [HPO:curators] is_a: HP:0008988 ! Pelvic girdle muscle atrophy created_by: peter creation_date: 2008-04-07T10:57:00Z [Term] id: HP:0003674 name: Onset alt_id: HP:0003588 alt_id: HP:0003590 alt_id: HP:0003597 alt_id: HP:0003602 alt_id: HP:0003603 alt_id: HP:0003618 alt_id: HP:0003626 alt_id: HP:0003628 alt_id: HP:0003630 alt_id: HP:0003663 alt_id: HP:0003664 alt_id: HP:0003668 alt_id: HP:0011007 def: "The age group in which disease manifestations appear." [HPO:probinson] comment: Adolescent is defined by WHO as a person between 10-19 years of age. synonym: "Age of onset" EXACT [] xref: MeSH:D017668 "Age of Onset" is_a: HP:0012823 ! Clinical modifier [Term] id: HP:0003676 name: Progressive disorder xref: UMLS:C1864985 "Progressive disorder" is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003677 name: Slow progression alt_id: HP:0003675 alt_id: HP:0003681 synonym: "Slow disease progression" EXACT [] synonym: "Slowly progressive" EXACT [] synonym: "Slowly progressive disorder" EXACT [] xref: UMLS:C1847727 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003678 name: Rapidly progressive synonym: "Rapid progression" EXACT [] synonym: "RAPIDLY PROGRESSIVE DISORDER" RELATED [HPO:skoehler] is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003679 name: Pace of progression is_a: HP:0012823 ! Clinical modifier [Term] id: HP:0003680 name: Nonprogressive disorder alt_id: HP:0003685 synonym: "Nonprogressive" EXACT [] synonym: "Nonprogressive course" EXACT [] is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003682 name: Variable progression rate is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003683 name: Large beaked nose is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0003687 name: Centrally nucleated skeletal muscle fibers def: "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)." [HPO:probinson] comment: Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma). synonym: "Central nuclei" EXACT [] synonym: "Centralized nuclei" EXACT [] synonym: "Centralized sarcomeric nuclei" EXACT [] xref: UMLS:C1842170 "Centralized nuclei" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003688 name: Decreased activity of cytochrome C oxidase in muscle tissue alt_id: HP:0003734 alt_id: HP:0009006 def: "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue." [HPO:probinson] comment: This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane. synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT [] synonym: "Decreased skeletal muscle cytochrome c oxidase activity" EXACT [] is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003689 name: Multiple mitochondrial DNA deletions alt_id: HP:0003801 def: "The presence of multiple deletions of mitochondrial DNA (mtDNA)." [HPO:probinson] comment: This feature can be demonstrated by muscle biopsy. synonym: "Multiple mitochondrial DNA (mtDNA) deletions" EXACT [] is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0003690 name: Limb muscle weakness alt_id: HP:0002534 def: "Reduced strength and weakness of the muscles of the arms and legs." [HPO:sdoelken] synonym: "Limb weakness" EXACT [] xref: UMLS:C1835991 "Limb muscle weakness" is_a: HP:0001324 ! Muscle weakness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003691 name: Scapular winging alt_id: HP:0000783 def: "Abnormal protrusion of the scapula away from the surface of the back." [HPO:probinson] subset: hposlim_core synonym: "Scapula alata" EXACT [] synonym: "Winged scapulae" EXACT [] synonym: "Winged scapulas" EXACT [] xref: MEDRA:10067628 "Winged scapula" xref: SNOMEDCT:17211005 "Winged scapula" xref: UMLS:C0240953 "Winged scapula" xref: UMLS:C1842064 "Scapular winging" is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0003693 name: Distal amyotrophy alt_id: HP:0002484 alt_id: HP:0002934 alt_id: HP:0003486 alt_id: HP:0003699 alt_id: HP:0006786 alt_id: HP:0006864 alt_id: HP:0008937 alt_id: HP:0008958 alt_id: HP:0009015 alt_id: HP:0009040 alt_id: HP:0009065 def: "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] comment: Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). synonym: "Amyotrophy of distal limb muscles" EXACT [] synonym: "Distal amyotrophy, especially of the hands and feet" EXACT [] synonym: "Distal limb muscle atrophy" EXACT [] synonym: "Distal muscle atrophy" EXACT [] synonym: "Distal muscle atrophy, upper and lower limbs" EXACT [] synonym: "Distal muscle wasting" EXACT [] synonym: "Distal muscular atrophy" EXACT [] synonym: "Muscle atrophy, distal" EXACT [] xref: UMLS:C1836019 "Distal amyotrophy" is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003694 name: Late-onset proximal muscle weakness def: "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003696 name: Absent epiphysis of the distal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:37:43Z [Term] id: HP:0003697 name: Scapuloperoneal amyotrophy alt_id: HP:0006920 alt_id: HP:0008957 def: "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles." [HPO:probinson] synonym: "Scapuloperoneal atrophy" EXACT [] xref: UMLS:C1842162 "Scapuloperoneal atrophy" xref: UMLS:C1867005 "AMYOTROPHY, SCAPULOPERONEAL" is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003698 name: Difficulty standing synonym: "Difficulty in standing" EXACT [] xref: UMLS:C0241237 "Difficulty standing" is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003700 name: Generalized amyotrophy alt_id: HP:0008977 alt_id: HP:0008987 alt_id: HP:0008996 alt_id: HP:0009043 alt_id: HP:0009052 alt_id: HP:0009068 alt_id: HP:0009074 def: "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles." [HPO:probinson] synonym: "Diffuse amyotrophy" EXACT [] synonym: "Diffuse muscle atrophy" EXACT [] synonym: "Diffuse muscle wasting" EXACT [] synonym: "Diffuse skeletal muscle wasting" EXACT [] synonym: "Generalized muscle atrophy" EXACT [] synonym: "Muscle atrophy, diffuse" EXACT [] synonym: "Muscle atrophy, generalized" EXACT [] synonym: "Muscular atrophy, generalized" EXACT [] xref: UMLS:C1389113 "Diffuse muscle atrophy" xref: UMLS:C1832674 "Generalized amyotrophy" is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0003701 name: Proximal muscle weakness alt_id: HP:0003432 alt_id: HP:0003475 alt_id: HP:0007195 alt_id: HP:0008950 alt_id: HP:0008961 alt_id: HP:0008975 alt_id: HP:0009033 alt_id: HP:0009075 def: "A lack of strength of the proximal muscles." [HPO:probinson] comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. synonym: "Muscle weakness, proximal" EXACT [] synonym: "Proximal limb muscle weakness" EXACT [] synonym: "Proximal limb weakness" EXACT [] synonym: "Proximal neurogenic muscle weakness" RELATED [] xref: UMLS:C0221629 "Proximal muscle weakness" xref: UMLS:C1838869 "Proximal neurogenic muscle weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003704 name: Scapuloperoneal weakness synonym: "Neurogenic scapuloperoneal syndrome" EXACT [] xref: UMLS:C1842161 "Scapuloperoneal weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003707 name: Calf muscle pseudohypertrophy def: "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat." [HPO:probinson] comment: Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. synonym: "Pseudohypertrophy of the calves" EXACT [] xref: UMLS:C1839666 "Calf muscle pseudohypertrophy" is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0003710 name: Exercise-induced muscle cramps alt_id: HP:0008983 alt_id: HP:0009000 def: "Sudden and involuntary contractions of one or more muscles brought on by physical exertion." [HPO:probinson] synonym: "Exercise-induced muscle cramping" EXACT [] synonym: "Muscle cramps following exercise" EXACT [] synonym: "Muscle cramps on exercise" EXACT [] synonym: "Muscle cramps on exertion" EXACT [] synonym: "Muscle cramps with exertion" EXACT [] is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0003712 name: Skeletal muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] comment: Increased muscle bulk based on clinical observation. synonym: "Hypertrophic muscles" EXACT [] synonym: "Muscle hypertrophy" EXACT [] synonym: "Muscular hypertrophy" EXACT [] xref: UMLS:C0236033 "Muscle hypertrophy" is_a: HP:0030236 ! Abnormality of muscle size [Term] id: HP:0003713 name: Muscle fiber necrosis alt_id: HP:0003726 def: "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [HPO:curators] xref: UMLS:C1850848 "Muscle fiber necrosis" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003715 name: Myofibrillar myopathy def: "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins." [HPO:probinson] comment: This feature is demonstrated by muscle biopsy. synonym: "Myofibrillar changes" EXACT [] is_a: HP:0003198 ! Myopathy [Term] id: HP:0003716 name: Generalized muscular appearance from birth is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003717 name: Minimal subcutaneous fat xref: UMLS:C1859442 "Minimal subcutaneous fat" is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003719 name: Muscle mounding comment: Transient swelling of muscle induced by percussion. xref: UMLS:C1853702 "Muscle mounding" is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003720 name: Generalized muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators] xref: UMLS:C1858125 "Generalized muscle hypertrophy" is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0003722 name: Neck flexor weakness alt_id: HP:0000469 def: "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] synonym: "Neck flexion weakness" EXACT [] synonym: "Neck flexor muscle weakness" EXACT [] xref: UMLS:C1864575 "Neck flexor weakness" is_a: HP:0000467 ! Neck muscle weakness [Term] id: HP:0003724 name: Shoulder girdle muscle atrophy def: "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] synonym: "Shoulder girdle atrophy" EXACT [] synonym: "Shoulder girdle muscle wasting" EXACT [] synonym: "Shoulder-girdle muscle atrophy" EXACT [] xref: UMLS:C1847766 "Shoulder girdle muscle atrophy" is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0003725 name: Firm muscles xref: UMLS:C1850656 "Firm muscles" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003729 name: Enteroviral dermatomyositis syndrome xref: UMLS:C1844002 "Enteroviral dermatomyositis syndrome" is_a: HP:0002743 ! Recurrent enteroviral infections [Term] id: HP:0003730 name: EMG: myotonic runs def: "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)." [HPO:probinson] comment: This is a characteristic abnormality seen in the myotonias and periodic paralyses. synonym: "EMG: spontaneous, repetitive electrical activity" RELATED [] is_a: HP:0002486 ! Myotonia [Term] id: HP:0003731 name: Quadriceps muscle weakness def: "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)." [HPO:curators] synonym: "Quadriceps weakness" EXACT [] xref: UMLS:C1842817 "Quadriceps muscle weakness" is_a: HP:0008994 ! Proximal muscle weakness in lower limbs [Term] id: HP:0003733 name: Thigh hypertrophy def: "Muscle hypertrophy affecting the thighs." [HPO:probinson] xref: UMLS:C1846674 "Thigh hypertrophy" is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0003736 name: Autophagic vacuoles def: "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue." [HPO:probinson, pmid:17027858] xref: UMLS:C0544966 "Autophagic vacuoles" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003737 name: Mitochondrial myopathy alt_id: HP:0008960 def: "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers." [HPO:probinson] comment: This is a bundled term that should not be used for future annotations. xref: MeSH:D017240 "Mitochondrial Myopathies" xref: UMLS:C0162670 "MITOCHONDRIAL MYOPATHY" is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003738 name: Exercise-induced myalgia def: "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:probinson] synonym: "Exercise-induced muscle pain" EXACT [] synonym: "Muscle pain on exercise" EXACT [] synonym: "Muscle pain with exercise" EXACT [] synonym: "Muscle pain, exercise-induced" EXACT [] xref: UMLS:C1850680 "Exercise-induced myalgia" is_a: HP:0003326 ! Myalgia [Term] id: HP:0003739 name: Myoclonic spasms alt_id: HP:0006963 xref: UMLS:C0037763 "SPASMS" is_a: HP:0001336 ! Myoclonus [Term] id: HP:0003740 name: Myotonia with warm-up phenomenon def: "Myotonia that occurs after a period of rest and decreases with continuing exercise." [HPO:probinson, pmid:7678441] is_a: HP:0002486 ! Myotonia [Term] id: HP:0003741 name: Congenital muscular dystrophy alt_id: HP:0003793 synonym: "Muscular dystrophy, congenital" EXACT [] xref: UMLS:C0699743 "Congenital muscular dystrophy" is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003743 name: Genetic anticipation def: "A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next." [HPO:probinson] comment: This mode of inheritance is characteristic of trinucleotide and some other repeat disorders. xref: MeSH:D020132 "Anticipation, Genetic" is_a: HP:0000005 ! Mode of inheritance property_value: HP:0040005 "A `mode of inheritance` (HP:0000005) in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003744 name: Genetic anticipation with paternal anticipation bias def: "A type of genetic anticipation observed predominantly upon transmission from affected males." [HPO:probinson] synonym: "Paternal anticipation bias" RELATED [] xref: UMLS:C1834002 is_a: HP:0003743 ! Genetic anticipation property_value: HP:0040005 "A type of `genetic anticipation` (HP:0003743) observed predominantly upon transmission from affected males." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003745 name: Sporadic alt_id: HP:0001420 alt_id: HP:0003747 alt_id: HP:0003769 def: "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [HPO:probinson] synonym: "Isolated cases" EXACT [] xref: UMLS:C0205422 "Sporadic" is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003749 name: Pelvic girdle muscle weakness alt_id: HP:0003692 alt_id: HP:0008999 alt_id: HP:0009036 def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:probinson] synonym: "Hip girdle muscle weakness" EXACT [] synonym: "Hip girdle weakness" EXACT [] synonym: "Hip-girdle muscle weakness" EXACT [] synonym: "Pelvic girdle weakness" EXACT [] xref: UMLS:C1846673 "Hip girdle weakness" is_a: HP:0001445 ! Abnormality of the hip-girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003750 name: Increased muscle fatiguability def: "An abnormal, increased fatiguability of the musculature." [HPO:curators] synonym: "Muscle fatigue" RELATED [] xref: UMLS:C0242979 "Muscle Fatigue" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003752 name: Episodic flaccid weakness def: "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching." [HPO:probinson] is_a: HP:0010547 ! Muscle flaccidity [Term] id: HP:0003755 name: Type 1 fibers relatively smaller than type 2 fibers def: "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers." [HPO:curators] comment: This feature can only be observed on muscle biopsy. is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003756 name: Skeletal myopathy xref: UMLS:C1844915 "Skeletal myopathy" is_a: HP:0003198 ! Myopathy [Term] id: HP:0003758 name: Reduced subcutaneous adipose tissue def: "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:probinson] synonym: "Decreased subcutaneous adipose tissue" EXACT [] synonym: "Reduced subcutaneous fat" EXACT [] synonym: "Scanty adipose tissue" EXACT [] xref: UMLS:C1857657 "Decreased subcutaneous adipose tissue" is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0040063 ! Decreased adipose tissue property_value: HP:0040005 "The presence of an abnormally reduced amount of `subcutaneous adipose tissue` (FMA:74315)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003759 name: Hypoplasia of lymphatic vessels def: "Congenital underdevelopment of lymph vessels." [HPO:probinson] comment: This feature can be demonstrated by lymphography. is_a: HP:0100766 ! Abnormality of the lymphatic vessels [Term] id: HP:0003760 name: Percussion-induced rapid rolling muscle contractions (PIRC) is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003761 name: Calcinosis def: "Formation of calcium deposits in any soft tissue." [HPO:probinson] xref: MeSH:D002114 "Calcinosis" xref: UMLS:C0006663 "Calcinosis" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003762 name: Uterus didelphys def: "A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis." [HPO:probinson] synonym: "Double uterus" RELATED [] xref: UMLS:C0266393 "Uterus didelphys" is_a: HP:0000130 ! Abnormality of the uterus property_value: HP:0040005 "A malformation of the `uterus` (FMA:17558) in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003763 name: Bruxism def: "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep." [HPO:sdoelken] xref: MeSH:D002012 "Bruxism" xref: UMLS:C0006325 "Bruxism" is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0003764 name: Nevus def: "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." [HPO:probinson] comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. synonym: "Naevi" RELATED [] synonym: "Naevus" EXACT [] synonym: "Nevi" RELATED [] xref: MeSH:D009506 "Nevus" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0003765 name: Psoriasis def: "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)." [HPO:probinson] xref: MeSH:D011565 xref: UMLS:C0033860 "Psoriasis" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0003768 name: Periodic paralysis def: "Episodes of muscle weakness." [HPO:probinson] synonym: "Episodic paralysis" EXACT [] xref: UMLS:C0030443 "Periodic paralysis" is_a: HP:0003470 ! Paralysis [Term] id: HP:0003771 name: Pulp stones def: "Multiple punctate calcifications in the dental pulp." [HPO:ibailleulforestier] xref: UMLS:C1527284 "Pulp stones" is_a: HP:0006479 ! Abnormality of the dental pulp property_value: HP:0040005 "Multiple punctate calcifications in the `dental pulp` (FMA:55631)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0003774 name: Stage 5 chronic kidney disease alt_id: HP:0000101 alt_id: HP:0004720 alt_id: HP:0004725 alt_id: HP:0004733 alt_id: HP:0004738 alt_id: HP:0005570 def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine." [HPO:probinson] comment: Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. synonym: "Chronic renal failure" EXACT [] synonym: "End stage renal disease" EXACT [] synonym: "End stage renal failure" EXACT [] synonym: "End-stage renal disease" EXACT [] synonym: "End-stage renal failure" EXACT [HPO:skoehler] synonym: "RENAL FAILURE, ENDSTAGE" RELATED [HPO:skoehler] xref: MeSH:D007676 "Kidney Failure, Chronic" xref: UMLS:C0022661 "Renal Failure, End-Stage" is_a: HP:0012622 ! Chronic kidney disease [Term] id: HP:0003777 name: Pili torti def: "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:17170005 "Pili torti" xref: UMLS:C0263491 "Pili torti" is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003778 name: Short mandibular rami alt_id: HP:0005447 synonym: "Short body and ramus of mandible" EXACT [] synonym: "Short mandibular ramus" EXACT [] synonym: "Underdeveloped mandibular rami" EXACT [] xref: UMLS:C1865316 "Short mandibular rami" is_a: HP:0000347 ! Micrognathia [Term] id: HP:0003779 name: Antegonial notching of mandible is_a: HP:0010753 ! Midline defect of mandible [Term] id: HP:0003781 name: Excessive salivation def: "Excessive production of saliva." [HPO:probinson] synonym: "Excessive production of saliva" EXACT [] synonym: "Hypersalivation" EXACT [] synonym: "Ptyalism" EXACT [] xref: MeSH:D012798 xref: UMLS:C0037036 "Excessive salivation" is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0003782 name: Eunuchoid habitus def: "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)." [HPO:probinson] xref: UMLS:C0151721 "Eunuchoidism" is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0003783 name: Externally rotated/abducted legs is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0003784 name: Type 1 collagen overmodification xref: UMLS:C1970463 "Type collagen overmodification" is_a: HP:0011862 ! Abnormal bone collagen fibril morphology [Term] id: HP:0003785 name: Decreased CSF homovanillic acid (HVA) def: "Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine." [KI:phemming, pmid:12615172] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0003787 name: Type 1 and type 2 muscle fiber minicore regions def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers." [HPO:probinson] is_a: HP:0003789 ! Minicore (multicore) myopathy [Term] id: HP:0003789 name: Minicore (multicore) myopathy alt_id: HP:0003804 def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." [HPO:probinson] is_a: HP:0003198 ! Myopathy [Term] id: HP:0003791 name: Deposits immunoreactive to beta-amyloid protein is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003795 name: Short middle phalanx of toe def: "Developmental hypoplasia (shortening) of middle phalanx of toe." [HPO:probinson] synonym: "Short middle phalanges (feet)" EXACT [] is_a: HP:0001831 ! Short toe is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: HP:0040005 "Developmental hypoplasia (shortening) of `middle phalanx of toe` (FMA:75829)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003796 name: Irregular iliac crest def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [HPO:curators] xref: UMLS:C1855180 "Irregular iliac crest" is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003797 name: Limb-girdle muscle atrophy def: "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators] synonym: "Limb-girdle myopathy" BROAD [] xref: UMLS:C1842552 "Limb-girdle muscle atrophy" is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0003798 name: Nemaline bodies def: "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, PMID:11333380] comment: This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. synonym: "Nemaline rods" EXACT [] is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies [Term] id: HP:0003799 name: Marked delay in bone age alt_id: HP:0005742 alt_id: HP:0005843 synonym: "Marked retardation in skeletal maturation" EXACT [] synonym: "Markedly retarded bone age" EXACT [] is_a: HP:0002750 ! Delayed skeletal maturation [Term] id: HP:0003800 name: Muscle abnormality related to mitochondrial dysfunction is_a: HP:0003011 ! Abnormality of the musculature [Term] id: HP:0003803 name: Type 1 muscle fiber predominance alt_id: HP:0003721 alt_id: HP:0003807 def: "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson] comment: This finding is demonstrated by muscle biopsy. synonym: "Type I muscle fiber predominance" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003805 name: Rimmed vacuoles alt_id: HP:0009029 def: "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [HPO:probinson] comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. synonym: "'rimmed vacuoles' on biopsy" EXACT [] synonym: "'rimmed' vacuoles on biopsy" EXACT [] xref: UMLS:C0333773 "Rimmed vacuoles" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003808 name: Abnormal muscle tone is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003809 name: Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) is_a: HP:0040063 ! Decreased adipose tissue [Term] id: HP:0003810 name: Late-onset distal muscle weakness alt_id: HP:0003728 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003811 name: Neonatal death alt_id: HP:0003820 alt_id: HP:0003824 def: "Death within the first 28 days of life." [HPO:probinson] synonym: "Neonatal lethal" EXACT [] is_a: HP:0011420 ! Time of death [Term] id: HP:0003812 name: Phenotypic variability alt_id: HP:0003813 alt_id: HP:0003815 alt_id: HP:0003821 alt_id: HP:0003822 def: "A variability of phenotypic features." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "CLINICAL HETEROGENEITY" EXACT [HPO:skoehler] synonym: "Highly variable clinical phenotype" EXACT [] synonym: "Highly variable phenotype" EXACT [] synonym: "Highly variable phenotype and severity" EXACT [] synonym: "Highly variable phenotype, even within families" EXACT [] synonym: "Variable phenotype" EXACT [] synonym: "Variable phenotypic severity" EXACT [] is_a: HP:0012823 ! Clinical modifier [Term] id: HP:0003819 name: Death in childhood alt_id: HP:0001432 alt_id: HP:0004149 def: "Death in during childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson] xref: UMLS:C1836407 is_a: HP:0011420 ! Time of death [Term] id: HP:0003826 name: Stillbirth alt_id: HP:0001624 alt_id: HP:0001625 def: "Death of the fetus in utero after at least 20 weeks of gestation." [HPO:probinson] synonym: "Fetal death" RELATED [] synonym: "Stillborn" EXACT [] xref: MeSH:D050497 "Stillbirth" xref: UMLS:C0595939 "Stillbirth" is_a: HP:0011420 ! Time of death [Term] id: HP:0003828 name: Variable expressivity alt_id: HP:0003814 alt_id: HP:0003825 def: "A variable severity of phenotypic features." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "HIGHLY VARIABLE SEVERITY" RELATED [HPO:skoehler] synonym: "Variable severity" EXACT [] is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003829 name: Incomplete penetrance alt_id: HP:0003830 def: "A situation in which mutation carriers do not show clinically evident phenotypic abnormalities." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Reduced penetrance" EXACT [] is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003831 name: Age-dependent penetrance def: "A situation in which phenotypic abnormalities become evident with age." [HPO:probinson] synonym: "Age dependent penetrance" EXACT [] xref: UMLS:C1835978 is_a: HP:0003829 ! Incomplete penetrance [Term] id: HP:0003832 name: Abnormality of the tibial plateaux is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0003833 name: Laterally deficient tibial plateaux is_a: HP:0003832 ! Abnormality of the tibial plateaux [Term] id: HP:0003834 name: Shoulder dislocation def: "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [HPO:curators] xref: MeSH:D012783 "Shoulder Dislocation" xref: UMLS:C0037005 "Shoulder Dislocation" is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003835 name: Shoulder subluxation def: "A partial dislocation of the shoulder joint." [HPO:curators] is_a: HP:0003834 ! Shoulder dislocation [Term] id: HP:0003836 name: Stippled calcification of the shoulder is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003837 name: Soft-tissue ossification around the shoulders def: "Formation of calcified tissue in the soft tissues surrounding the shoulder." [HPO:probinson] is_a: HP:0011986 ! Ectopic ossification [Term] id: HP:0003839 name: Abnormality involving the epiphyses of the upper limbs alt_id: HP:0003845 synonym: "Epihyseal plate abnormality of the upper limbs" EXACT [] is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006505 ! Abnormality involving the epiphyses of the limbs [Term] id: HP:0003840 name: Delayed upper limb epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs." [HPO:probinson] is_a: HP:0002663 ! Delayed epiphyseal ossification is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs property_value: HP:0040005 "A delay in the process of formation and maturation of the `epiphysis` (FMA:24012) of one or more long bones of the upper limbs." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003841 name: Fragmented epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0003842 name: Irregular epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0003843 name: Round epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003844 name: Small epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0003846 name: Wide epiphyseal plates of the upper limbs synonym: "Broad epiphyseal plates of the upper limbs" EXACT [] is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003848 name: Cupped metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003849 name: Flared metaphyses of the upper limbs is_a: HP:0003015 ! Flared metaphyses is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003850 name: Irregular metaphyses of the upper limbs is_a: HP:0003025 ! Metaphyseal irregularity is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003851 name: Lytic defects in metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003852 name: Normal density transverse bands in metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003853 name: Sclerosis with transverse striations in metaphyses of the upper limbs is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs [Term] id: HP:0003854 name: Sclerosis of metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003855 name: Spurred metaphyses of the upper limbs is_a: HP:0005054 ! Metaphyseal spurs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003856 name: Upper limb metaphyseal widening def: "Increased width (breadth) of metaphyses of the arms." [HPO:probinson] synonym: "Wide/broad metaphyses of the upper limbs" EXACT [] is_a: HP:0003016 ! Metaphyseal widening is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003858 name: Cortical diaphyseal irregularity of the upper limbs is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003859 name: Cortical diaphyseal thickening of the upper limbs is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003860 name: Diaphyseal sclerosis of the upper limbs def: "An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] is_a: HP:0003034 ! Diaphyseal sclerosis is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003861 name: Broad diaphyses of the upper limbs synonym: "Wide diaphyses of the upper limbs" EXACT [] is_a: HP:0009808 ! Anomaly of the upper limb diaphyses [Term] id: HP:0003862 name: Absent humerus def: "Missing humerus bone associated with congenital failure of development." [HPO:probinson] subset: hposlim_core synonym: "Aplasia of the humerus" EXACT [] synonym: "Aplastic humerus" EXACT [] xref: SNOMEDCT:47713000 "Congenital absence of humerus" xref: UMLS:C0265578 "Congenital absence of humerus" is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0003863 name: Angulated humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003864 name: Bifid humerus def: "Clefting affecting the humerus." [HPO:curators] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0003865 name: Bowed humerus def: "A bending or abnormal curvature of the humerus." [HPO:probinson] subset: hposlim_core synonym: "Bowing of the humerus" EXACT [] synonym: "Humeral bowing" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006488 ! Bowing of the arm is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs property_value: HP:0040005 "A bending or abnormal curvature of the `humerus` (FMA:13303)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003866 name: Coarse trabeculae (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003867 name: Cortical irregularity (humeral) is_a: HP:0005731 ! Cortical irregularity is_a: HP:0010629 ! Abnormality of the cortex of the humerus [Term] id: HP:0003868 name: Cortical thickening (humeral) is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0010629 ! Abnormality of the cortex of the humerus [Term] id: HP:0003869 name: Cortical thinning (humeral) is_a: HP:0002753 ! Thin bony cortex is_a: HP:0010629 ! Abnormality of the cortex of the humerus [Term] id: HP:0003870 name: Crumpled humerus alt_id: HP:0003873 xref: UMLS:C0020162 "fractured humerus" is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0003871 name: Deformed humerus is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0003872 name: Exostoses (humeral) is_a: HP:0002762 ! Multiple exostoses is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003874 name: Humerus varus subset: hposlim_core xref: SNOMEDCT:205328000 "Congenital humeral varus" xref: UMLS:C0431787 "Congenital humeral varus" is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003875 name: Lytic defects (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003876 name: Osteoporotic humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003877 name: Oval transradiancy (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003878 name: Periosteal new bone (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003879 name: Pseudarthrosis (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003880 name: Sclerotic foci of the humerus synonym: "Sclerotic foci (humeral)" EXACT [] is_a: HP:0003881 ! Humeral sclerosis [Term] id: HP:0003881 name: Humeral sclerosis synonym: "Sclerosis (humeral)" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0003882 name: Slender humerus def: "Reduction in diameter of the humerus." [HPO:probinson] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003100 ! Slender long bone is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs property_value: HP:0040005 "Reduction in diameter of the `humerus` (FMA:13303)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003883 name: Tapered humerus is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0003884 name: Triangular humerus is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0003885 name: Undermodeled humerus is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0003886 name: Wide humerus synonym: "Broad humerus" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0005622 ! Broad long bones is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0003887 name: Abnormality of the humeral heads is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003888 name: Flattened humeral heads is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0003889 name: Abnormality of the deltoid tuberosities is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003890 name: Prominent deltoid tuberosities is_a: HP:0003889 ! Abnormality of the deltoid tuberosities [Term] id: HP:0003891 name: Abnormality of the humeral epiphysis def: "An anomaly of the humeral epiphysis." [HPO:probinson] synonym: "Abnormality of the humeral epiphyses" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs property_value: HP:0040005 "An anomaly of the `humeral epiphysis` (FMA:32825)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003892 name: Absent humeral epiphyseal ossification def: "Lack of formation of bone in the epiphysis of the humerus." [HPO:probinson] comment: Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation. synonym: "Absent ossification of the humeral epiphyses" EXACT [] is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003893 name: Advanced ossification of the humeral epiphysis def: "Ossification of the humeral epiphysis at an earlier age than normal." [HPO:probinson] synonym: "Advanced maturation of the humeral epiphyses" RELATED [] is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010656 ! Abnormal epiphyseal ossification property_value: HP:0040005 "Ossification of the `humeral epiphysis` (FMA:32825) at an earlier age than normal." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003894 name: Delayed humeral epiphyseal ossification def: "A delay in the process of formation and maturation of the humeral epiphysis." [HPO:probinson] synonym: "Delayed maturation/delayed ossification of the humeral epiphyses" EXACT [] is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003891 ! Abnormality of the humeral epiphysis property_value: HP:0040005 "A delay in the process of formation and maturation of the `humeral epiphysis` (FMA:32825)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003895 name: Flattened humeral epiphyses is_a: HP:0003071 ! Flattened epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003896 name: Irregular humeral epiphyses is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003897 name: Irregular ossification of the humeral epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010656 ! Abnormal epiphyseal ossification is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003898 name: Large humeral epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003899 name: Round humeral epiphyses is_a: HP:0003843 ! Round epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003900 name: Small humeral epiphyses is_a: HP:0003844 ! Small epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003901 name: Stippled calcification of the humeral epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003902 name: Epiphyseal stippling of the humerus def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis." [HPO:probinson] synonym: "Stippled ossification of the humeral epiphyses" EXACT [] is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses is_a: HP:0010655 ! Epiphyseal stippling property_value: HP:0040005 "The presence of abnormal punctate (speckled, dot-like) calcifications in the `humeral epiphysis` (FMA:32825)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003903 name: Broad humeral epiphyses def: "Increased width of the humeral epiphysis." [HPO:probinson] synonym: "Wide humeral epiphyses" EXACT [] is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0003904 ! Wide epiphyses of the upper limbs property_value: HP:0040005 "Increased width of the `humeral epiphysis` (FMA:32825)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003904 name: Wide epiphyses of the upper limbs synonym: "Broad epiphyses of the upper limbs" EXACT [] is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003905 name: Abnormality of the humeral epiphyseal plate is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003906 name: Broad humeral epiphyseal plate def: "Increased width of the humeral epiphyseal growth plate." [HPO:probinson] synonym: "Wide humeral epiphyseal plate" EXACT [] is_a: HP:0003846 ! Wide epiphyseal plates of the upper limbs is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate [Term] id: HP:0003907 name: Abnormality of the humeral metaphyses is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003908 name: Corner spurs (humeral metaphyses) is_a: HP:0003922 ! Spurred humeral metaphysis [Term] id: HP:0003909 name: Cortical subperiosteal resorption (humeral metaphyses) is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003910 name: Enlarged humeral metaphyses synonym: "Expanded humeral metaphyses" EXACT [] is_a: HP:0003051 ! Enlarged metaphyses is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003911 name: Flared humeral metaphysis alt_id: HP:0003925 def: "Flaring (increase of width with a splayed appearance) of the humeral metaphysis." [HPO:probinson] synonym: "Flared humerus" RELATED [] synonym: "Wide/broad humeral metaphysis" EXACT [] is_a: HP:0003849 ! Flared metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses property_value: HP:0040005 "Flaring (increase of width with a splayed appearance) of the `humeral metaphysis` (FMA:32830)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003912 name: Frayed humeral metaphyses is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003913 name: Irregular humeral metaphyses is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003914 name: Irregular ossification of humeral metaphyses is_a: HP:0003907 ! Abnormality of the humeral metaphyses is_a: HP:0012791 ! Abnormal humeral ossification [Term] id: HP:0003915 name: Lytic defects of the humeral metaphsis is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003916 name: Normal-density transverse bands (humerus) is_a: HP:0003852 ! Normal density transverse bands in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003917 name: Pointed humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003918 name: Sclerotic humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003919 name: Sclerotic humeral metaphysis with longitudinal striations is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0003920 name: Sloping humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003921 name: Laterally sloping humeral metaphysis is_a: HP:0003920 ! Sloping humeral metaphysis [Term] id: HP:0003922 name: Spurred humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003923 name: Square humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003924 name: Stippled calcification of humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003926 name: Abnormality of the humeral diaphysis def: "An anomaly of the humeral diaphysis." [HPO:probinson] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0009808 ! Anomaly of the upper limb diaphyses property_value: HP:0040005 "An anomaly of the `humeral diaphysis` (FMA:13305)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003927 name: Cortical irregularity of humeral diaphysis def: "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus." [HPO:curators] is_a: HP:0003858 ! Cortical diaphyseal irregularity of the upper limbs is_a: HP:0003867 ! Cortical irregularity (humeral) is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003928 name: Cortical thickening of humeral diaphysis is_a: HP:0003859 ! Cortical diaphyseal thickening of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003929 name: Ground glass opacity of humeral diaphysis is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003930 name: Lytic defects of humeral diaphysis synonym: "Humeral diaphyseal lysis" EXACT [] is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003931 name: Periosteal new bone (humeral diaphysis) is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003932 name: Sclerotic foci of humeral diaphysis is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003933 name: Sclerosis of humeral diaphysis is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003934 name: Slender humeral diaphysis is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003935 name: Wide humeral diaphysis def: "Increased width of the humeral diaphysis." [HPO:probinson] synonym: "Broad humeral diaphysis" EXACT [] is_a: HP:0003861 ! Broad diaphyses of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis property_value: HP:0040005 "Increased width of the `humeral diaphysis` (FMA:13305)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003938 name: Synostosis involving the elbow is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0003939 name: Humeroulnar synostosis def: "An abnormal osseous union (fusion) between the ulna and the humerus." [HPO:curators] synonym: "Humeral ulnar synostosis" EXACT [] is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0100745 ! Abnormality of the humeroulnar joint [Term] id: HP:0003940 name: Osteoarthritis of the elbow is_a: HP:0002758 ! Osteoarthritis is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003941 name: Stippled calcification of the elbow is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003942 name: Synovial chondromatosis of the elbow is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003943 name: Abnormality of the joint spaces of the elbow is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003944 name: Narrow joint spaces of the elbow is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow [Term] id: HP:0003945 name: Irregular articular surfaces of the elbow joints is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003946 name: Abnormality of the epiphyses of the elbow is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003947 name: Delayed elbow epiphyseal ossification def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow." [HPO:probinson] is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow property_value: HP:0040005 "A delay in the process of formation and maturation of the `epiphysis` (FMA:24012) of one or more long bones that are part of the elbow." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003948 name: Irregular epiphyses of the elbow is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003949 name: Abnormality of the elbow metaphyses is_a: HP:0009809 ! Abnormality of upper limb metaphysis is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003950 name: Flared metaphyses (elbow) is_a: HP:0003849 ! Flared metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003951 name: Irregular metaphyses (elbow) is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003952 name: Sclerotic foci of metaphyses of the elbow synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT [] is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003953 name: Absent forearm bone def: "Absence of one or more forearm bones associated with congenital failure of development." [HPO:probinson] synonym: "Aplasia of the forearm bones" EXACT [] is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones [Term] id: HP:0003954 name: Angulated forearm bones is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040073 ! Abnormal morphology of forearm bone [Term] id: HP:0003955 name: Bone-in-a-bone appearance (forearm) is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003956 name: Bowed forearm bones def: "A bending or abnormal curvature affecting either the radius, the ulna, or both." [HPO:probinson] is_a: HP:0006488 ! Bowing of the arm is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040073 ! Abnormal morphology of forearm bone property_value: HP:0040005 "A bending or abnormal curvature affecting either the `radius` (:FMA:23463), the `ulna`(FMA:23466), or both." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003957 name: Cortical thickening of the forearm bones is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003958 name: Cross-fusion of the forearm bones is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003959 name: Deformed forearm bones is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040073 ! Abnormal morphology of forearm bone [Term] id: HP:0003960 name: Exostoses of the forearm bones is_a: HP:0040072 ! Abnormality of forearm bone is_a: HP:0100777 ! Exostoses [Term] id: HP:0003961 name: Fractured forearm bones is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040073 ! Abnormal morphology of forearm bone [Term] id: HP:0003963 name: Lytic defects of the forearm bones is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003964 name: Osteoporotic forearm bones xref: UMLS:C0223680 "Forearm bone" is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003965 name: Pseudarthrosis of the forearm bones is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003966 name: Sclerotic foci in forearm bones is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003967 name: Sclerotic forearm bones is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003969 name: Slender forearm bones xref: UMLS:C0223680 "Forearm bone" is_a: HP:0040073 ! Abnormal morphology of forearm bone [Term] id: HP:0003970 name: Undermodelled forearm bones xref: UMLS:C0223680 "Forearm bone" is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0003971 name: Broad forearm bones def: "Abnormally wide bone of the skeleton of forearm." [HPO:probinson] synonym: "Wide forearm bones" EXACT [] is_a: HP:0040073 ! Abnormal morphology of forearm bone property_value: HP:0040005 "Abnormally wide bone of the `skeleton of forearm` (FMA:71199)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003973 name: Wide radioulnar joints synonym: "Broad radioulnar joints" EXACT [] is_a: HP:0003037 ! Enlarged joints is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0003974 name: Absent radius alt_id: HP:0002819 alt_id: HP:0005012 def: "Missing radius bone associated with congenital failure of development." [HPO:probinson] subset: hposlim_core synonym: "absence of radius and ulna" EXACT [] synonym: "Absent ossification/absence of radius" EXACT [] synonym: "Aplasia of the radius" EXACT [] synonym: "Radial aplasia" EXACT [] xref: SNOMEDCT:84918006 "Congenital absence of radius" xref: UMLS:C0265582 "Congenital absence of radius" xref: UMLS:C1838608 "Radial aplasia" is_a: HP:0003953 ! Absent forearm bone is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009822 ! Aplasia involving forearm bones [Term] id: HP:0003975 name: Chevron-shaped/cone-shaped radius is_a: HP:0045008 ! Abnormal shape of the radius [Term] id: HP:0003976 name: Constricted radius is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0003977 name: Deformed radius alt_id: HP:0005046 is_a: HP:0003959 ! Deformed forearm bones is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0003978 name: Fractured radius xref: UMLS:C0034628 "fractured radius" is_a: HP:0003084 ! Fractures of the long bones is_a: HP:0003961 ! Fractured forearm bones is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0003979 name: Lytic defects of the radius is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003963 ! Lytic defects of the forearm bones [Term] id: HP:0003980 name: Pseudarthrosis of the radius is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003965 ! Pseudarthrosis of the forearm bones [Term] id: HP:0003981 name: Broad radius def: "Increased width of the radius." [HPO:probinson] synonym: "Wide radius" EXACT [] is_a: HP:0003971 ! Broad forearm bones is_a: HP:0005622 ! Broad long bones is_a: HP:0045009 ! Abnormal morphology of the radius property_value: HP:0040005 "Increased width of the `radius` (FMA:23463)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003982 name: Absent ulna def: "Missing ulna bone associated with congenital failure of development." [HPO:probinson] subset: hposlim_core synonym: "Absent ossification/absent ulna" EXACT [] synonym: "ABSENT ULNAE" RELATED [HPO:skoehler] synonym: "Aplasia of the ulna" EXACT [] xref: SNOMEDCT:52022007 "Congenital absence of ulna" xref: UMLS:C0431848 "Congenital absence of ulna" is_a: HP:0003953 ! Absent forearm bone is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna is_a: HP:0009822 ! Aplasia involving forearm bones [Term] id: HP:0003984 name: Posteriorly dislocated ulna is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003985 name: Exostoses of the ulna is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003986 name: Exostoses of the radius is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003987 name: Fractured ulna xref: UMLS:C0041601 "fractured ulna" is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003084 ! Fractures of the long bones is_a: HP:0003961 ! Fractured forearm bones [Term] id: HP:0003988 name: Long ulna alt_id: HP:0006435 def: "Increased length of the ulna." [HPO:probinson] subset: hposlim_core synonym: "Disproportionately long ulnae" EXACT [] xref: UMLS:C1848108 "Disproportionately long ulnae" is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003989 name: Notched ulna is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003990 name: Pointed ulna is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003991 name: Osteosclerosis of the ulna def: "Osteosclerosis (increased density related to increased bone mass) of the ulna." [HPO:curators] synonym: "Sclerotic ulna" EXACT [] is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003967 ! Sclerotic forearm bones is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0003992 name: Slender ulna def: "Reduction in diameter of the ??ulna." [HPO:probinson] xref: UMLS:C1968814 "Slender ulnae" is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003100 ! Slender long bone is_a: HP:0003969 ! Slender forearm bones property_value: HP:0040005 "Reduction in diameter of the ??ulna` (FMA:23466)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003993 name: Broad ulna alt_id: HP:0200081 def: "Increased width of the ulna." [HPO:probinson] synonym: "Wide ulna" RELATED [] is_a: HP:0003971 ! Broad forearm bones is_a: HP:0005622 ! Broad long bones is_a: HP:0040071 ! Abnormal morphology of ulna property_value: HP:0040005 "Increased width of the `ulna` (FMA:23466)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0003994 name: Dislocated wrist alt_id: HP:0004992 def: "An injury of the wrist with displacement of any of the eight carpal bones." [HPO:probinson] synonym: "Dislocations of the wrists" EXACT [] xref: MEDRA:10013184 "Dislocation of wrist" xref: UMLS:C0159941 "Dislocated wrist" is_a: HP:0001373 ! Joint dislocation is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003995 name: Abnormality of the radial head synonym: "Deformity of radial heads" EXACT [] is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003996 name: Flattened radial head is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003997 name: Hypoplastic radial head synonym: "Small radial head" EXACT [] is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003998 name: Constricted radial neck is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0003999 name: Abnormality of radial epiphyses alt_id: HP:0004011 synonym: "Abnormality of radial epiphyseal plates" EXACT [] is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0004000 name: Chevron-shaped/cone-shaped radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0004001 name: Medially deficient radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004002 name: Flattened radial epiphyses is_a: HP:0003071 ! Flattened epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004003 name: Medially flattened radial epiphyses is_a: HP:0004002 ! Flattened radial epiphyses [Term] id: HP:0004004 name: Irregular radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0004005 name: Large radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0004006 name: Round radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004007 name: Sclerotic radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004008 name: Sloping radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004009 name: Medially sloping radial epiphyses is_a: HP:0004008 ! Sloping radial epiphyses [Term] id: HP:0004010 name: Small radial epiphyses is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0004012 name: Premature fusion of the radial epiphyseal plates def: "A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone." [HPO:sdoelken] comment: The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis). is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004013 name: Medially fused radial epiphyseal plates is_a: HP:0004012 ! Premature fusion of the radial epiphyseal plates [Term] id: HP:0004014 name: Broad radial epiphyseal plate def: "Abnormal increase in width of the epiphyseal growth plate of the radius." [HPO:probinson] synonym: "Wide radial epiphyseal plates" EXACT [] is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004015 name: Abnormality of radial metaphyses is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0004016 name: Cupped radial metaphyses is_a: HP:0003848 ! Cupped metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004017 name: Exostoses of the radial metaphysis is_a: HP:0003986 ! Exostoses of the radius is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004018 name: Flared radial metaphyses is_a: HP:0003849 ! Flared metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004019 name: Irregular radial metaphysis is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004020 name: Irregular ossification of the radial metaphysis is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004021 name: Lytic defects of radial metaphysis is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004022 name: Sclerotic radial metaphysis with longitudinal striations is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004023 name: Sloping radial metaphysis is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004024 name: Medially sloping radial metaphysis is_a: HP:0004023 ! Sloping radial metaphysis [Term] id: HP:0004025 name: Spurred radial metaphysis is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004026 name: Broad radial metaphysis def: "Increase in width (breadth) of the radial metaphysis." [HPO:probinson] synonym: "Wide radial metaphysis" EXACT [] is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0003981 ! Broad radius is_a: HP:0004015 ! Abnormality of radial metaphyses property_value: HP:0040005 "Increase in width (breadth) of the `radial metaphysis` (FMA:33789)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004027 name: Abnormality of radial diaphysis def: "An anomaly of the radial diaphysis." [HPO:probinson] is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0009808 ! Anomaly of the upper limb diaphyses property_value: HP:0040005 "An anomaly of the `radial diaphysis` (FMA:33782)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004028 name: Spurs of radial diaphysis is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004029 name: Lytic defects of radial diaphysis is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004030 name: Patchy sclerosis of radial diaphysis is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004031 name: Broad radial diaphysis def: "Increase in width of the diaphysis of radius." [HPO:probinson] comment: Increased diameter of the shaft (diaphysis) of the radius. synonym: "Wide radial diaphysis" EXACT [] is_a: HP:0004027 ! Abnormality of radial diaphysis property_value: HP:0040005 "Increase in width of the `diaphysis of radius` (FMA:33782)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004032 name: Abnormality of the olecranon is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004033 name: Curved olecranon is_a: HP:0004032 ! Abnormality of the olecranon is_a: HP:0040073 ! Abnormal morphology of forearm bone [Term] id: HP:0004034 name: Irregular olecranon is_a: HP:0004032 ! Abnormality of the olecranon [Term] id: HP:0004035 name: Abnormality of the styloid process of ulna is_a: HP:0004037 ! Abnormality of the ulnar epiphyses [Term] id: HP:0004036 name: Long styloid process of ulna is_a: HP:0004035 ! Abnormality of the styloid process of ulna [Term] id: HP:0004037 name: Abnormality of the ulnar epiphyses synonym: "Abnormality of the epiphyseal plate of the ulna" EXACT [] is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0004038 name: Bony spikule of ulnar epiphyseal plate is_a: HP:0004037 ! Abnormality of the ulnar epiphyses [Term] id: HP:0004039 name: Abnormality of ulnar metaphysis is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0004040 name: Corner fragments of ulnar metaphysis is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004041 name: Cupped ulnar metaphysis is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004042 name: Irregular ulnar metaphysis is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004043 name: Lytic defects of ulnar metaphysis is_a: HP:0002797 ! Osteolysis is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004044 name: Pointed ulnar metaphysis is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004045 name: Sloping ulnar metaphysis def: "A sloped configuration of the metaphysis (shaft) of the ulna." [HPO:curators] is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004046 name: Spurred ulnar metaphysis is_a: HP:0003855 ! Spurred metaphyses of the upper limbs is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004047 name: Wide ulnar metaphysis def: "Increase in width (breadth) of the ulnar metaphysis." [HPO:probinson] synonym: "Broad ulnar metaphysis" EXACT [] is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004048 name: Narrow joint spaces of wrist is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004049 name: Decreased carpal angles of wrist is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004050 name: Absent hand def: "The total absence of the hand, with no bony elements distal to the radius or ulna." [pmid:19125433] subset: hposlim_core synonym: "Acheiria" EXACT [] xref: SNOMEDCT:371199008 "Congenital absence of hand" xref: UMLS:C0265594 "Congenital absence of hand" is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand [Term] id: HP:0004051 name: Advanced ossification of the hand bones def: "Ossification of hand bones at an earlier age than normal." [HPO:probinson] synonym: "Advanced maturation of the hand bones" RELATED [] is_a: HP:0005921 ! Abnormal ossification of hand bones is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004052 name: Delayed ossification of the hand bones def: "Ossification of hand bones is less advanced than would be expected according to age-adjusted norms." [HPO:probinson] synonym: "Delay maturation/delayed ossification of the hand" EXACT [] synonym: "Delayed maturation of the hand bones" RELATED [] is_a: HP:0005921 ! Abnormal ossification of hand bones is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004053 name: Dysharmonic maturation of the hand bones alt_id: HP:0006204 def: "Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand." [HPO:probinson] synonym: "Disharmonic maturation of the hand bones" EXACT [] synonym: "Dysharmonic ossification of the hand bones" EXACT [] is_a: HP:0005921 ! Abnormal ossification of hand bones is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004054 name: Sclerosis of hand bone alt_id: HP:0004055 def: "Osteosclerosis affecting one or more bones of the hand." [HPO:probinson] synonym: "Generalized sclerosis of hand bones" EXACT [] synonym: "Hand bone sclerosis" EXACT [] is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004057 name: Mitten deformity def: "Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \"mitten\" hand deformity." [HPO:probinson, pmid:20301304] comment: Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly. synonym: "Pseudosyndactyly" EXACT [] is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004058 name: Monodactyly (hands) is_a: HP:0001180 ! Oligodactyly (hands) [Term] id: HP:0004059 name: Radial club hand def: "Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius." [HPO:probinson] is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0004060 name: Trident hand def: "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits." [HPO:probinson] comment: This abnormality is often seen in patients with achondroplasia. subset: hposlim_core synonym: "trident abnormality" EXACT [] synonym: "trident deformity" EXACT [] xref: UMLS:C0426874 "Trident hand" is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004066 name: obsolete Laterally deviated thumb phalanges is_obsolete: true consider: HP:0009602 [Term] id: HP:0004083 name: obsolete Laterally deviated terminal thumb phalanx is_obsolete: true consider: HP:0005895 [Term] id: HP:0004090 name: obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis is_obsolete: true consider: HP:0009662 [Term] id: HP:0004095 name: Curved fingers is_a: HP:0001167 ! Abnormality of finger is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004097 name: Deviation of finger alt_id: HP:0006229 def: "Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges." [HPO:curators] synonym: "Deviated fingers" EXACT [] is_a: HP:0001167 ! Abnormality of finger is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0004099 name: Macrodactyly def: "Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit." [pmid:19125433] comment: There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width. subset: hposlim_core synonym: "Finger overgrowth" EXACT [HPO:sdoelken] synonym: "Megalodactyly" EXACT [] xref: MEDRA:10025386 "Macrodactyly" xref: UMLS:C2117323 "macrodactyly" is_a: HP:0011297 ! Abnormality of digit [Term] id: HP:0004100 name: Abnormality of the 2nd finger def: "An anomaly of the second finger, also known as the index finger." [HPO:probinson] synonym: "Abnormality of index finger" EXACT [] is_a: HP:0001167 ! Abnormality of finger property_value: HP:0040005 "An anomaly of the `second finger` (FMA:24946), also known as the index finger." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004110 name: obsolete Radially deviated index finger phalanges alt_id: HP:0004111 synonym: "Radially displaced index finger phalanges" EXACT [] is_obsolete: true consider: HP:0009542 [Term] id: HP:0004112 name: Midline nasal groove def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [HPO:sdoelken] is_a: HP:0004122 ! Midline defect of the nose created_by: peter creation_date: 2009-01-21T04:59:08Z [Term] id: HP:0004121 name: obsolete Radially displaced proximal index finger phalanx is_obsolete: true consider: HP:0009544 [Term] id: HP:0004122 name: Midline defect of the nose alt_id: HP:0003190 def: "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:sdoelken] is_a: HP:0005105 ! Abnormal nasal morphology created_by: peter creation_date: 2009-01-21T04:59:54Z [Term] id: HP:0004132 name: Dimple on nasal tip def: "An abnormal indentation of the skin in the region of the nasal tip." [HPO:sdoelken] is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2009-01-21T05:05:55Z [Term] id: HP:0004138 name: obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger is_obsolete: true consider: HP:0009541 [Term] id: HP:0004139 name: obsolete Flared metaphysis of middle phalanx of index finger is_obsolete: true consider: HP:0009569 [Term] id: HP:0004143 name: obsolete Radially deviated terminal index finger phalanx is_obsolete: true consider: HP:0009542 [Term] id: HP:0004144 name: obsolete Duplication of terminal index finger phalanx is_obsolete: true replaced_by: HP:0009948 [Term] id: HP:0004150 name: Abnormality of the 3rd finger def: "An anomaly of the third finger." [HPO:probinson] synonym: "Abnormality of the middle finger" EXACT [] is_a: HP:0001167 ! Abnormality of finger property_value: HP:0040005 "An anomaly of the `third finger` (FMA:24947)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004153 name: obsolete Overgrowth of middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004157 name: obsolete Accessory middle-finger phalanges is_obsolete: true replaced_by: HP:0009963 [Term] id: HP:0004161 name: obsolete Periosteal new bone of middle finger phalanges is_obsolete: true consider: HP:0009316 [Term] id: HP:0004162 name: obsolete Radially pointed middle finger phalanges is_obsolete: true consider: HP:0009316 [Term] id: HP:0004168 name: obsolete Radially pointed proximal middle-finger phalanx is_obsolete: true consider: HP:0009316 [Term] id: HP:0004172 name: Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger [Term] id: HP:0004174 name: obsolete Accessory middle phalanx of middle finger is_obsolete: true replaced_by: HP:0009963 [Term] id: HP:0004175 name: obsolete Periosteal new bone of middle phalanx of middle-finger is_obsolete: true consider: HP:0004172 [Term] id: HP:0004180 name: Short distal phalanx of the 3rd finger alt_id: HP:0004182 def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 3rd finger" EXACT [] synonym: "Short distal phalanx of the third finger" EXACT [] synonym: "Short terminal phalanx of middle finger" EXACT [] is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger is_a: HP:0009882 ! Short distal phalanx of finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `distal phalanx of the third finger` (FMA:23947)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0004183 name: obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger is_obsolete: true consider: HP:0009357 [Term] id: HP:0004184 name: obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009423 [Term] id: HP:0004185 name: obsolete Fused epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004186 name: obsolete Large epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004187 name: obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger is_obsolete: true consider: HP:0009316 [Term] id: HP:0004188 name: Abnormality of the 4th finger synonym: "Abnormality of the ring finger" EXACT [] is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004192 name: obsolete Bracket epiphyses of the 4th finger def: "The epiphyses are normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] synonym: "Bracket epiphyses of the ring finger" EXACT [] is_obsolete: true replaced_by: HP:0009394 [Term] id: HP:0004193 name: obsolete Expanded phalanges of the ring finger is_obsolete: true consider: HP:0009172 [Term] id: HP:0004194 name: obsolete Hypoplastic phalanges of the ring finger is_obsolete: true consider: HP:0009408 [Term] id: HP:0004195 name: Osteolytic defects of the phalanges of the 4th finger def: "Osteolytic defects of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Lytic defects of the phalanges of the ring finger" RELATED [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004196 name: obsolete Short phalanges of the ring finger is_obsolete: true consider: HP:0009408 [Term] id: HP:0004197 name: Symphalangism of the 4th finger def: "Fusion of two or more bones of the 4th finger." [HPO:curators] synonym: "Symphalangism of the ring finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004198 name: obsolete Wide/broad phalanges of the ring finger is_obsolete: true consider: HP:0009172 [Term] id: HP:0004201 name: obsolete Expanded proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009310 [Term] id: HP:0004202 name: obsolete Lytic defects of the proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009312 [Term] id: HP:0004203 name: obsolete Short proximal phalanx of the ring finger is_obsolete: true replaced_by: HP:0009300 [Term] id: HP:0004207 name: Abnormality of the 5th finger def: "An abnormality affecting one or both 5th fingers." [HPO:sdoelken] synonym: "Abnormality of the little finger" EXACT [] is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0004209 name: Clinodactyly of the 5th finger alt_id: HP:0001158 alt_id: HP:0001588 alt_id: HP:0004212 alt_id: HP:0006083 alt_id: HP:0006181 alt_id: HP:0009181 def: "Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [HPO:curators, pmid:16252026] comment: Minor degrees of curvature of the small finger are so common as to be considered normal. synonym: "Bilateral fifth digit clinodactyly" EXACT [] synonym: "Bilateral fifth finger clinodactyly" EXACT [] synonym: "Clinodactyly of fifth digit" EXACT [] synonym: "Clinodactyly of the little finger" EXACT [] synonym: "Fifth finger clinodactyly" EXACT [] xref: UMLS:C1850049 "Bilateral fifth finger clinodactyly" is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0040019 ! Finger clinodactyly property_value: HP:0040005 "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." xsd:string {xref="HPO:curators", xref="pmid:16252026"} [Term] id: HP:0004213 name: Abnormality of the phalanges of the 5th finger def: "Abnormality of the phalanges of the 5th (little) finger." [HPO:sdoelken] is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0005918 ! Abnormality of phalanx of finger [Term] id: HP:0004214 name: Curved phalanges of the 5th finger def: "Curved phalanges of the 5th (little) finger." [HPO:curators] is_a: HP:0004095 ! Curved fingers is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009770 ! Curved phalanges of the hand [Term] id: HP:0004216 name: Osteolytic defects of the phalanges of the 5th finger def: "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger." [HPO:curators] synonym: "Lytic defects of the phalanges of the little finger" EXACT [] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004218 name: Symphalangism of the 5th finger def: "Fusion of two or more bones of the 5th finger." [HPO:curators] synonym: "Symphalagism of the little finger" EXACT [] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004219 name: Abnormality of the middle phalanx of the 5th finger is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger [Term] id: HP:0004220 name: Short middle phalanx of the 5th finger alt_id: HP:0001243 alt_id: HP:0003069 alt_id: HP:0004221 alt_id: HP:0005649 alt_id: HP:0005706 alt_id: HP:0005734 alt_id: HP:0005813 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the fifth finger." [HPO:sdoelken] synonym: "5th finger middle phalangeal hypoplasia" EXACT [] synonym: "Brachymesophalangism V" EXACT [] synonym: "Fifth finger mid-phalanx hypoplasia" EXACT [] synonym: "Hypoplastic fifth finger middle phalanx" EXACT [] synonym: "Hypoplastic middle phalanx (5th finger)" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 5th finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the little finger" EXACT [] synonym: "Short middle phalanx of the little finger" EXACT [] xref: UMLS:C1861372 "5th finger middle phalangeal hypoplasia" is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009237 ! Short 5th finger property_value: HP:0040005 "Absence or underdevelopment (hypoplasia) of the `middle phalanx of the fifth finger` (FMA:23936)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0004222 name: Cone-shaped epiphysis of the distal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped epiphysis of the distal phalanx of the little finger" EXACT [] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand [Term] id: HP:0004223 name: Ivory epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004229 def: "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Ivory epiphysis of the distal phalanx of the little finger" EXACT [] synonym: "Ivory epiphysis of the terminal phalanx of the little finger" EXACT [] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand [Term] id: HP:0004224 name: Abnormality of the epiphysis of the middle phalanx of the 5th finger def: "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand [Term] id: HP:0004225 name: Abnormality of the distal phalanx of the 5th finger def: "Abnormality of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Abnormality of the distal phalanx of the little finger" EXACT [] synonym: "Abnormality of the terminal phalanx of the little finger" EXACT [] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger [Term] id: HP:0004226 name: Curved distal phalanx of the 5th finger def: "Curved appearance of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Curved terminal phalanx of the little finger" EXACT [] is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009838 ! Curved distal phalanges of the hand [Term] id: HP:0004227 name: Short distal phalanx of the 5th finger alt_id: HP:0006171 def: "Hypoplastic/small distal phalanx of the fifth finger." [HPO:sdoelken] synonym: "Brachytelophalangism V" EXACT [] synonym: "Fifth digit distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT [] synonym: "Short distal phalanx of the fifth finger" EXACT [] is_a: HP:0009237 ! Short 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0009882 ! Short distal phalanx of finger property_value: HP:0040005 "Hypoplastic/small `distal phalanx of the fifth finger` (FMA:23949)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0004230 name: Subluxation of the proximal interphalangeal joint of the little finger def: "A partial dislocation of the proximal interphalangeal joint of the little finger." [HPO:sdoelken] is_a: HP:0001373 ! Joint dislocation is_a: HP:0004207 ! Abnormality of the 5th finger [Term] id: HP:0004231 name: Carpal bone aplasia alt_id: HP:0005056 alt_id: HP:0006020 alt_id: HP:0006084 def: "Congenital absence of a carpal bone." [HPO:probinson] comment: Radiographically difficult to distinguish between absent ossification of a carpal bone. synonym: "Absent carpal bone" EXACT [] synonym: "Absent carpal bones" EXACT [] synonym: "Absent carpal ossification center" EXACT [] synonym: "Aplastic carpal bone" EXACT [] xref: UMLS:C1836219 "Absent carpal bones" xref: UMLS:C1848667 "Aplastic carpal bone" is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0004232 name: Accessory carpal bones def: "The presence of more than the normal number of carpal bones." [HPO:curators] synonym: "Supernumerary carpal bones" EXACT [] xref: UMLS:C0265609 "Accessory carpal bones" is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0004275 ! Duplication of hand bones [Term] id: HP:0004233 name: Advanced ossification of carpal bones alt_id: HP:0006104 def: "Ossification of carpal bones at an abnormally early age." [HPO:probinson] synonym: "Accelerated carpal bone maturation" EXACT [] synonym: "Advanced carpal bone age" EXACT [] synonym: "Advanced carpal ossification" EXACT [] synonym: "Precociously ossified carpal bones" EXACT [] xref: UMLS:C1857116 "Accelerated carpal bone maturation" is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004234 name: Bone-in-a-bone appearance of carpal bones def: "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones." [HPO:curators] is_a: HP:0009164 ! Abnormal calcification of the carpal bones is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004235 name: Comma-shaped carpal bones is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004236 name: Irregular carpal bones def: "Carpal bones with irregular or fragmented margins." [HPO:probinson] is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004237 name: Large carpal bones def: "Increased size of carpal bones." [HPO:probinson] subset: hposlim_core synonym: "Large carpals" EXACT [] is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004238 name: Lytic defects of carpal bones is_a: HP:0001495 ! Carpal osteolysis [Term] id: HP:0004239 name: Proximally placed carpal bones is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004240 name: Sclerotic foci within carpal bones is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004241 name: Stippled calcification in carpal bones alt_id: HP:0006177 def: "Point-shaped (punctate) calcifications affecting the carpal bones." [HPO:curators] synonym: "Punctate calcifications of carpals" EXACT [] is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004242 name: Broad carpal bones synonym: "Wide carpal bones" EXACT [] is_a: HP:0004237 ! Large carpal bones [Term] id: HP:0004243 name: Abnormality of the scaphoid is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004244 name: Accessory scaphoid is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004245 name: Comma-shaped scaphoid is_a: HP:0004235 ! Comma-shaped carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004246 name: Delayed ossification of the scaphoid def: "Formation of bone tissue of scaphoid is less than expected for age." [HPO:sdoelken] synonym: "Delayed maturation of the scaphoid" EXACT [] is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045003 ! Abnormal ossification of the scaphoid [Term] id: HP:0004247 name: Small scaphoid def: "Underdevelopment of the scaphoid." [HPO:probinson] is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004243 ! Abnormality of the scaphoid property_value: HP:0040005 "Underdevelopment of the `scaphoid` (FMA:23709)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004248 name: Abnormality of the lunate bone is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004249 name: Accessory lunate is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004250 name: Proximally placed lunate is_a: HP:0004239 ! Proximally placed carpal bones is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004251 name: Lunate-triquetral fusion is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004252 name: Abnormality of the trapezium def: "An anomaly of trapezium." [HPO:probinson] is_a: HP:0001191 ! Abnormality of the carpal bones property_value: HP:0040005 "An anomaly of `trapezium` (FMA:23721)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004253 name: Absent trapezium synonym: "Absent trapezium bone" EXACT [] xref: UMLS:C1847190 "Absent trapezium bone" is_a: HP:0004252 ! Abnormality of the trapezium is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004254 name: Delayed ossification of the trapezium def: "Formation of bone tissue of trapezium is less than expected for age." [HPO:probinson] synonym: "Delayed maturation of the trapezium" EXACT [] is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0004252 ! Abnormality of the trapezium is_a: HP:0045001 ! Abnormal ossification of the trapezium property_value: HP:0040005 "Formation of bone tissue of `trapezium` (FMA:23721) is less than expected for age." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004255 name: Small trapezium def: "Underdevelopment of the trapezium." [HPO:probinson] is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004252 ! Abnormality of the trapezium property_value: HP:0040005 "Underdevelopment of the `trapezium` (FMA:23721)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004256 name: Abnormality of the trapezoid bone is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004257 name: Delayed ossification of the trapezoid bone def: "Formation of bone tissue of trapezoid is less than expected for age." [HPO:probinson] synonym: "Delayed maturation of the trapezoid bone" EXACT [] is_a: HP:0001216 ! Delayed ossification of carpal bones is_a: HP:0045004 ! Abnormal ossification of the trapezoid bone property_value: HP:0040005 "Formation of bone tissue of `trapezoid` (FMA:23724) is less than expected for age." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004258 name: Small trapezoid bone def: "Underdevelopment of the trapezoid." [HPO:probinson] is_a: HP:0001498 ! Carpal bone hypoplasia is_a: HP:0004256 ! Abnormality of the trapezoid bone property_value: HP:0040005 "Underdevelopment of the `trapezoid` (FMA:23724)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004259 name: Abnormality of the hamate bone is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004260 name: Large hamate bone is_a: HP:0004237 ! Large carpal bones is_a: HP:0004259 ! Abnormality of the hamate bone [Term] id: HP:0004261 name: Wide hamate bone synonym: "Broad hamate bone" EXACT [] is_a: HP:0004242 ! Broad carpal bones is_a: HP:0004260 ! Large hamate bone [Term] id: HP:0004262 name: Abnormality of the capitate bone is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004263 name: Large capitate bone is_a: HP:0004237 ! Large carpal bones is_a: HP:0004262 ! Abnormality of the capitate bone [Term] id: HP:0004264 name: Narrow carpal joint spaces alt_id: HP:0004265 synonym: "Decreased carpal joint angles" EXACT [] is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004267 name: Narrow small joints of the hand is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0004268 name: Osteoarthritis of the small joints of the hand is_a: HP:0002758 ! Osteoarthritis is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0004269 name: Subluxation of the small joints of the hand def: "A partial dislocation of some or all of the small joints of the hand." [HPO:curators] is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0004271 name: Cortical thickening of hand bones is_a: HP:0005926 ! Abnormalities of the cortex of hand bones is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0004272 name: Cortical thinning of hand bones is_a: HP:0002753 ! Thin bony cortex is_a: HP:0005926 ! Abnormalities of the cortex of hand bones [Term] id: HP:0004273 name: Cupped metaphyses of hand bones is_a: HP:0005923 ! Abnormalities of the metaphyses of the hand [Term] id: HP:0004274 name: Deficient ossification of hand bones is_a: HP:0005921 ! Abnormal ossification of hand bones is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004275 name: Duplication of hand bones is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009142 ! Duplication of bones involving the upper extremities [Term] id: HP:0004276 name: Exostoses of hand bones def: "Abnormal formation of new bone on the surface of a bone of the hand." [HPO:curators] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100777 ! Exostoses [Term] id: HP:0004277 name: Fractured hand bones is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004278 name: Synostosis involving bones of the hand def: "An abnormal union between bones or parts of bones of the hand." [HPO:sdoelken] synonym: "Fused hand bones" RELATED [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0004279 name: Short palm alt_id: HP:0001165 def: "Short palm." [HPO:probinson, pmid:19125433] comment: This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short. synonym: "Hypoplastic hands" EXACT [] synonym: "Short hands" EXACT [] synonym: "SHORT PALMS" RELATED [HPO:skoehler] xref: UMLS:C1843108 "Short hands" is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand is_a: HP:0100871 ! Abnormality of the palm property_value: HP:0040005 "Short `palm`(FMA:24920)." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} [Term] id: HP:0004280 name: Irregular ossification of hand bones is_a: HP:0005921 ! Abnormal ossification of hand bones is_a: HP:0010660 ! Abnormal hand bone ossification [Term] id: HP:0004281 name: Irregular sclerosis of hand bones is_a: HP:0004054 ! Sclerosis of hand bone [Term] id: HP:0004283 name: Narrow palm def: "For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length." [pmid:19125433] comment: Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not. synonym: "Narrow hand" EXACT [] synonym: "NARROW HANDS" RELATED [HPO:skoehler] xref: UMLS:C1857632 "Narrow hands" is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0004284 name: Notched hand bones is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004285 name: Overmodelled hand bones xref: UMLS:C0448064 "Hand Bones" is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004286 name: Patchy sclerosis of hand bones is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004287 name: Pointed hand bones is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004288 name: Pseudoepiphyses of hand bones is_a: HP:0005924 ! Abnormality of the epiphyses of the hand is_a: HP:0010584 ! Pseudoepiphyses [Term] id: HP:0004289 name: Sclerotic foci in hand bones is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004290 name: Sclerosis of hand bones with transverse striations is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004291 name: Stippled calcification of hand bones is_a: HP:0004280 ! Irregular ossification of hand bones [Term] id: HP:0004292 name: Undermodelled hand bones xref: UMLS:C0448064 "Hand Bones" is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004293 name: Synostosis of second metacarpal-trapezoid def: "Fusion of the second metacarpal-trapezoid." [HPO:probinson] synonym: "Fusion of second metacarpal-trapezoid" EXACT [] is_a: HP:0009702 ! Carpal synostosis is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal is_a: HP:0100328 ! Carpometacarpal synostosis [Term] id: HP:0004294 name: Subluxation of metacarpal phalangeal joints def: "A partial dislocation affecting some or all of the metacarpophalangeal joints." [HPO:probinson] is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint property_value: HP:0040005 "A partial dislocation affecting some or all of the `metacarpophalangeal joints` (FMA:35246)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004295 name: Abnormality of the gastric mucosa def: "An abnormality of the gastric mucous membrane." [HPO:probinson] is_a: HP:0002577 ! Abnormality of the stomach property_value: HP:0040005 "An abnormality of the `gastric mucous membrane` (FMA:14907)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T11:12:00Z [Term] id: HP:0004296 name: Abnormality of gastrointestinal vasculature is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-02-20T11:24:00Z [Term] id: HP:0004297 name: Abnormality of the biliary system def: "An abnormality of the biliary system." [HPO:probinson] is_a: HP:0001392 ! Abnormality of the liver property_value: HP:0040005 "An abnormality of the `biliary system` (FMA:79646)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T11:34:00Z [Term] id: HP:0004298 name: Abnormality of the abdominal wall alt_id: HP:0001462 def: "The presence of any abnormality affecting the abdominal wall." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of external features of the abdomen" EXACT [] is_a: HP:0001438 ! Abnormality of the abdomen property_value: HP:0040005 "The presence of any abnormality affecting the `abdominal wall` (FMA:259054)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T11:40:00Z [Term] id: HP:0004299 name: Hernia of the abdominal wall def: "The presence of a hernia in the abdominal wall." [HPO:probinson] comment: A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. subset: hposlim_core xref: MeSH:D046449 "Hernia, Abdominal" xref: SNOMEDCT:128545000 "Hernia of abdominal wall" xref: UMLS:C0178282 "Abdominal hernia" xref: UMLS:C1442978 "Hernia of abdominal wall" is_a: HP:0010866 ! Abdominal wall defect is_a: HP:0100790 ! Hernia property_value: HP:0040005 "The presence of a hernia in the `abdominal wall` (FMA:259054)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T11:42:00Z [Term] id: HP:0004302 name: Functional motor problems. is_a: HP:0011804 ! Abnormality of muscle physiology created_by: peter creation_date: 2008-02-20T11:52:00Z [Term] id: HP:0004303 name: Abnormality of muscle fibers alt_id: HP:0003706 alt_id: HP:0011806 def: "Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." [HPO:probinson] comment: Skeletal muscle fibers are cylindrical multinucleated muscle cells. This feature is meant to group abnormalities appreciated by histology, electron microscopy, and similar methods that allow individual cells to be visualized. synonym: "Abnormal skeletal muscle fiber morphology" EXACT [] is_a: HP:0011805 ! Abnormality of muscle morphology property_value: HP:0040005 "Any abnormality of the `skeletal muscle cell` (FMA:9727). Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T12:04:00Z [Term] id: HP:0004305 name: Involuntary movements alt_id: HP:0007120 def: "Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face." [HPO:probinson] synonym: "Involuntary muscle contractions" EXACT [] xref: UMLS:C0235086 "Involuntary muscle contraction" is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2008-02-20T12:18:00Z [Term] id: HP:0004306 name: Abnormality of the endocardium alt_id: HP:0005260 def: "An abnormality of the endocardium." [HPO:probinson] synonym: "Abnormality of the endomycoardium" EXACT [] is_a: HP:0001627 ! Abnormality of cardiac morphology property_value: HP:0040005 "An abnormality of the `endocardium` (FMA:7280)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004307 name: Abnormal anatomic location of the heart is_a: HP:0002564 ! Malformation of the heart and great vessels created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004308 name: Ventricular arrhythmia synonym: "Ventricular arrhythmias" EXACT [HPO:skoehler] xref: UMLS:C1883529 "Ventricular arrhythmia" is_a: HP:0011675 ! Arrhythmia created_by: peter creation_date: 2008-02-20T01:28:00Z [Term] id: HP:0004309 name: Ventricular preexcitation alt_id: HP:0006676 def: "An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway." [HPO:probinson] comment: Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node. synonym: "Pre-excitation syndrome" EXACT [] synonym: "Preexcitation" EXACT [] synonym: "Ventricular pre-excitation" EXACT [] xref: MeSH:D011226 "Pre-Excitation Syndromes" xref: UMLS:C0559106 "Ventricular pre-excitation" is_a: HP:0004308 ! Ventricular arrhythmia created_by: peter creation_date: 2008-02-20T01:29:00Z [Term] id: HP:0004311 name: Abnormality of macrophages alt_id: HP:0004310 def: "An abnormality of macrophages." [HPO:probinson] synonym: "Abnormality of histiocytes" EXACT [] is_a: HP:0010974 ! Abnormality of myeloid leukocytes property_value: HP:0040005 "An abnormality of `macrophages` (CL:0000235)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T03:14:00Z [Term] id: HP:0004312 name: Abnormality of reticulocytes def: "A reticulocyte abnormality." [HPO:probinson] comment: Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining. is_a: HP:0001877 ! Abnormality of erythrocytes property_value: HP:0040005 "A `reticulocyte` (CL:0000558) abnormality." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-20T03:19:00Z [Term] id: HP:0004313 name: Hypogammaglobulinemia alt_id: HP:0010703 def: "An abnormally decreased level of immunoglobulin in blood." [HPO:probinson] comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. synonym: "Decreased immunoglobulin level" EXACT [] synonym: "Decreased serum immunoglobulin" EXACT [] synonym: "Immunoglobulin deficiency" EXACT [] synonym: "Reduced immunoglobulin levels" EXACT [] xref: UMLS:C1855415 "Decreased serum immunoglobulin" is_a: HP:0010701 ! Abnormal immunoglobulin level created_by: peter creation_date: 2008-02-20T03:34:00Z [Term] id: HP:0004315 name: IgG deficiency alt_id: HP:0003289 alt_id: HP:0003294 alt_id: HP:0005394 alt_id: HP:0008325 alt_id: HP:0008340 def: "An abnormally decreased level of immunoglobulin IgG in blood." [HPO:probinson] synonym: "Decreased gamma-globin expression" EXACT [] synonym: "Decreased IgG level" EXACT [] synonym: "Decreased immunoglobulin G" EXACT [] synonym: "Decreased serum IgG" EXACT [] synonym: "Reduced IgG levels" EXACT [] xref: MeSH:D017099 "IgG Deficiency" xref: UMLS:C0162539 "IgG Deficiency" is_a: HP:0004313 ! Hypogammaglobulinemia created_by: peter creation_date: 2008-02-20T03:43:00Z [Term] id: HP:0004319 name: Hypoaldosteronism alt_id: HP:0000355 alt_id: HP:0008184 alt_id: HP:0008190 def: "Abnormally reduced levels of aldosterone." [DDD:spark, HPO:probinson] comment: Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. synonym: "Decreased aldosterone production" EXACT [] synonym: "Mineralocorticoid insufficiency" EXACT [] xref: MeSH:D006994 "Hypoaldosteronism" xref: UMLS:C0020595 "Hypoaldosteronism" xref: UMLS:C1846226 "Mineralocorticoid insufficiency" is_a: HP:0008207 ! Primary adrenal insufficiency property_value: HP:0040005 "Abnormally reduced levels of `aldosterone` (CHEBI:27584)." xsd:string {xref="DDD:spark", xref="HPO:probinson"} created_by: peter creation_date: 2008-02-25T10:45:00Z [Term] id: HP:0004320 name: Vaginal fistula def: "The presence of a fistula of the vagina." [HPO:probinson] xref: MeSH:D014624 "Vaginal Fistula" xref: UMLS:C0042253 "Vaginal Fistula" is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0100589 ! Urogenital fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) of the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-25T12:17:00Z [Term] id: HP:0004321 name: Bladder fistula def: "The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin." [HPO:curators] xref: UMLS:C1963264 "Bladder fistula" is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0100589 ! Urogenital fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) connecting the `urinary bladder` (FMA:15900) to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2008-02-25T12:32:00Z [Term] id: HP:0004322 name: Short stature alt_id: HP:0001509 alt_id: HP:0003501 alt_id: HP:0003507 alt_id: HP:0003512 alt_id: HP:0003518 alt_id: HP:0003519 alt_id: HP:0008871 alt_id: HP:0008882 alt_id: HP:0008888 alt_id: HP:0008913 def: "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] synonym: "Decreased body height" EXACT [] synonym: "Height less than 3rd percentile" EXACT [] synonym: "Short stature (below 3rd percentile)" EXACT [] synonym: "Small stature" EXACT [] xref: UMLS:C2237041 "short stature" is_a: HP:0000002 ! Abnormality of body height is_a: HP:0001510 ! Growth delay created_by: peter creation_date: 2008-02-27T03:19:00Z [Term] id: HP:0004323 name: Abnormality of body weight alt_id: HP:0010718 def: "An abnormal increase or decrease of weight or an abnormal distribution of mass in the body." [HPO:probinson] synonym: "Abnormality of habitus" RELATED [] is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004324 name: Increased body weight synonym: "Weight gain" RELATED [] xref: UMLS:C0043094 "Increased body weight" is_a: HP:0004323 ! Abnormality of body weight created_by: peter creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004325 name: Decreased body weight alt_id: HP:0001823 alt_id: HP:0001826 synonym: "Decreased weight" EXACT [] synonym: "Low body weight" EXACT [] synonym: "Low weight" EXACT [] synonym: "Weight less than 3rd percentile" EXACT [] xref: UMLS:C0043096 "Decreased body weight" is_a: HP:0004323 ! Abnormality of body weight created_by: peter creation_date: 2008-02-27T03:22:00Z [Term] id: HP:0004326 name: Cachexia def: "Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease." [HPO:probinson] xref: MeSH:D002100 "Cachexia" xref: UMLS:C0006625 "Cachexia" is_a: HP:0001824 ! Weight loss created_by: peter creation_date: 2008-02-27T03:23:00Z [Term] id: HP:0004327 name: Abnormality of the vitreous humor def: "An anomaly of the vitreous body." [HPO:probinson] comment: The vitreous humor is the clear gel that fills the space between the lens and the retina. subset: hposlim_core is_a: HP:0004329 ! Abnormality of the posterior segment of the eye property_value: HP:0040005 "An anomaly of the `vitreous body` (FMA:58827)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-27T04:20:00Z [Term] id: HP:0004328 name: Abnormality of the anterior segment of the eye def: "An abnormality of the anterior segment of the eye." [HPO:probinson] comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. is_a: HP:0012374 ! Abnormality of the globe property_value: HP:0040005 "An abnormality of the `anterior segment` (FMA:58865) of the eye." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-27T04:23:00Z [Term] id: HP:0004329 name: Abnormality of the posterior segment of the eye comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. is_a: HP:0012374 ! Abnormality of the globe created_by: peter creation_date: 2008-02-27T04:25:00Z [Term] id: HP:0004330 name: Increased skull ossification def: "An increase in the magnitude or amount of ossification of the skull." [HPO:probinson] subset: hposlim_core is_a: HP:0002703 ! Abnormality of skull ossification is_a: HP:0011001 ! Increased bone mineral density created_by: peter creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004331 name: Decreased skull ossification alt_id: HP:0003780 def: "A reduction in the magnitude or amount of ossification of the skull." [HPO:probinson] subset: hposlim_core synonym: "Deficient skull ossification" EXACT [] synonym: "Ossification defect of skull" EXACT [] synonym: "Poorly mineralized cranium" EXACT [] synonym: "Poorly mineralized skull" EXACT [] synonym: "Poorly ossified skull" EXACT [] synonym: "Poorly ossified skull bones" EXACT [] xref: UMLS:C1859123 "Deficient skull ossification" is_a: HP:0002703 ! Abnormality of skull ossification is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004332 name: Abnormality of lymphocytes alt_id: HP:0001887 def: "An abnormality of lymphocytes." [HPO:probinson] comment: A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. xref: UMLS:C0427546 "Lymphocyte abnormal" is_a: HP:0001881 ! Abnormality of leukocytes property_value: HP:0040005 "An abnormality of `lymphocytes` (CL:0000542)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-02-28T06:46:00Z [Term] id: HP:0004333 name: Bone-marrow foam cells alt_id: HP:0001979 def: "The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance." [HPO:probinson] synonym: "Bone marrow foam cells" EXACT [] synonym: "Large vacuolated foam cells ('NP cells') on bone marrow biopsy" EXACT [] synonym: "Large vacuolated foam cells on bone marrow biopsy" EXACT [] xref: UMLS:C1856560 "bone marrow foam cells" is_a: HP:0004311 ! Abnormality of macrophages created_by: peter creation_date: 2008-02-28T06:48:00Z [Term] id: HP:0004334 name: Dermal atrophy alt_id: HP:0000985 alt_id: HP:0001077 def: "Partial or complete wasting (atrophy) of the skin." [HPO:probinson] subset: hposlim_core synonym: "Atrophic skin" EXACT [] synonym: "Skin atrophy" EXACT [] xref: MEDRA:10040799 "Skin atrophy" xref: SNOMEDCT:400190005 "Atrophic condition of skin" xref: UMLS:C0151514 "Skin atrophy" is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin created_by: peter creation_date: 2008-03-04T06:24:00Z [Term] id: HP:0004336 name: Myelin outfoldings alt_id: HP:0003433 alt_id: HP:0006898 alt_id: HP:0007290 def: "The presence of excessive redundant myelin in the peripheral nerve sheath." [HPO:probinson, pmid:10932274] comment: This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy). synonym: "Excessive focal folding of myelin sheaths" EXACT [] synonym: "Irregular myelin foldings" EXACT [] xref: UMLS:C1843168 "Irregular myelin foldings" is_a: HP:0030173 ! Peripheral hypermyelination created_by: peter creation_date: 2008-03-04T06:41:00Z [Term] id: HP:0004337 name: Abnormality of amino acid metabolism def: "Abnormality of an amino acid metabolic process." [HPO:probinson] synonym: "Amino acid levels abnormal" RELATED [] xref: UMLS:C0002514 "Amino acid metabolism disorder" is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism property_value: HP:0040005 "Abnormality of an `amino acid metabolic process` (GO:0006520)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-08T07:53:00Z [Term] id: HP:0004338 name: Abnormality of aromatic amino acid family metabolism def: "An abnormality of a aromatic amino acid family metabolic process." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "An abnormality of a `aromatic amino acid family metabolic process` (GO:0009072)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-08T07:55:00Z [Term] id: HP:0004339 name: Abnormality of sulfur amino acid metabolism def: "An abnormality of a sulfur amino acid metabolic process." [HPO:gcarletti] comment: Cysteine and methionine contain a sulfur atom. synonym: "Abnormality of sulfur-containing amino acids" EXACT [] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "An abnormality of a `sulfur amino acid metabolic process` (GO:0000096)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-08T08:01:00Z [Term] id: HP:0004340 name: Abnormality of vitamin B metabolism synonym: "Abnormality of B-vitamin metabolism" EXACT [] is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: peter creation_date: 2008-03-08T08:08:00Z [Term] id: HP:0004341 name: Abnormality of the vitamin B12 metabolism synonym: "Abnormality of vitamin B12 metabolism" EXACT [] is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: peter creation_date: 2008-03-08T08:09:00Z [Term] id: HP:0004342 name: Abnormality of galactoside metabolism def: "Abnormality of galactoside metabolism." [HPO:gcarletti] is_a: HP:0003649 ! Abnormality of glycoside metabolism property_value: HP:0040005 "Abnormality of `galactoside` (CHEBI:24163) metabolism." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-08T08:33:00Z [Term] id: HP:0004343 name: Abnormality of glycosphingolipid metabolism def: "An abnormality of glycosphingolipid metabolism." [HPO:probinson] comment: Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. is_a: HP:0010969 ! Abnormality of glycolipid metabolism property_value: HP:0040005 "An abnormality of `glycosphingolipid` (CHEBI:24402) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-08T08:35:00Z [Term] id: HP:0004344 name: Abnormality of cerebrosidase metabolism is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: peter creation_date: 2008-03-08T08:36:00Z [Term] id: HP:0004345 name: Abnormality of ganglioside metabolism def: "Abnormality of ganglioside metabolism." [HPO:probinson] comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism property_value: HP:0040005 "Abnormality of `ganglioside` (CHEBI:28892) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-11T07:50:00Z [Term] id: HP:0004347 name: Weakness of muscles of respiration def: "Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles." [HPO:probinson] is_a: HP:0001324 ! Muscle weakness is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2008-03-11T08:03:00Z [Term] id: HP:0004348 name: Abnormality of bone mineral density def: "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:probinson] synonym: "Abnormality of bone mineralisation and ossification" EXACT [] is_a: HP:0003330 ! Abnormal bone structure created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004349 name: Reduced bone mineral density def: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:sdoelken] synonym: "Decreased bone mineral density Z score" EXACT [] is_a: HP:0004348 ! Abnormality of bone mineral density created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004352 name: Abnormality of purine metabolism is_a: HP:0010932 ! Abnormality of nucleobase metabolism created_by: peter creation_date: 2008-03-17T01:04:00Z [Term] id: HP:0004353 name: Abnormality of pyrimidine metabolism def: "An abnormality of a pyrimidine base metabolic process." [HPO:probinson] is_a: HP:0010932 ! Abnormality of nucleobase metabolism property_value: HP:0040005 "An abnormality of a `pyrimidine base metabolic process` (GO:0006206)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T01:05:00Z [Term] id: HP:0004354 name: Abnormality of carboxylic acid metabolism def: "An abnormality of the metabolism of a carboxylic acid." [HPO:gcarletti] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality of the metabolism of a `carboxylic acid` (CHEBI:33575)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-17T01:11:00Z [Term] id: HP:0004355 name: Abnormality of proteoglycan metabolism def: "An abnormality of proteoglycan metabolism." [HPO:gcarletti] is_a: HP:0004367 ! Abnormality of glycoprotein metabolism is_a: HP:0011012 ! Abnormality of polysaccharide metabolism property_value: HP:0040005 "An abnormality of `proteoglycan` (CHEBI:37396) metabolism." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-17T01:12:00Z [Term] id: HP:0004356 name: Abnormality of lysosomal metabolism comment: A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. is_a: HP:0011017 ! Abnormality of cell physiology created_by: peter creation_date: 2008-03-17T02:40:00Z [Term] id: HP:0004357 name: Abnormality of leucine metabolism def: "Abnormality of a leucine metabolic process." [HPO:probinson] is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism property_value: HP:0040005 "Abnormality of a `leucine metabolic process`(GO:0006551)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T03:02:00Z [Term] id: HP:0004358 name: Abnormality of superoxide metabolism comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-17T03:22:00Z [Term] id: HP:0004359 name: Abnormality of fatty-acid metabolism def: "An abnormality of fatty acid metabolism." [HPO:probinson] comment: A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids. synonym: "Abnormality of fatty acid metabolism" EXACT [] synonym: "Fatty acids abnormal" RELATED [] is_a: HP:0003119 ! Abnormality of lipid metabolism property_value: HP:0040005 "An abnormality of `fatty acid` (CHEBI:35366) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T03:28:00Z [Term] id: HP:0004360 name: Abnormality of acid-base homeostasis def: "An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH." [HPO:probinson] synonym: "Acid base imbalance" RELATED [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-17T03:35:00Z [Term] id: HP:0004361 name: Abnormality of circulating leptin level def: "An abnormal concentration of leptin in the blood." [HPO:probinson] is_a: HP:0003117 ! Abnormality of circulating hormone level property_value: HP:0040005 "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of `leptin` (PRO:000009758) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T03:37:00Z [Term] id: HP:0004362 name: Abnormality of the enteric ganglia alt_id: HP:0002596 alt_id: HP:0003283 def: "An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow." [HPO:probinson] is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0012331 ! Abnormal autonomic nervous system morphology created_by: peter creation_date: 2008-03-17T03:40:00Z [Term] id: HP:0004363 name: Abnormality of calcium homeostasis def: "An abnormality of calcium ion homeostasis." [HPO:probinson] xref: UMLS:C0006705 "Calcium metabolism disorder" is_a: HP:0010927 ! Abnormality of divalent inorganic cation homeostasis property_value: HP:0040005 "An abnormality of `calcium ion homeostasis` (GO:0055074)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T04:15:00Z [Term] id: HP:0004364 name: Abnormality of nitrogen compound homeostasis def: "The presence of an abnormal concentration of nitrogen compounds." [HPO:gcarletti] comment: Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "The presence of an abnormal concentration of `nitrogen compounds` (CHEBI:51143)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-17T04:51:00Z [Term] id: HP:0004365 name: Abnormality of tryptophan metabolism def: "An abnormality of tryptophan metabolic process." [HPO:probinson] is_a: HP:0004338 ! Abnormality of aromatic amino acid family metabolism property_value: HP:0040005 "An abnormality of `tryptophan metabolic process` (GO:0006568)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T04:55:00Z [Term] id: HP:0004366 name: Abnormality of glycolysis def: "An abnormality of glycolysis." [HPO:probinson] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "An abnormality of `glycolysis` (GO:0006096)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-17T05:00:00Z [Term] id: HP:0004367 name: Abnormality of glycoprotein metabolism def: "An abnormality of a glycoprotein metabolic process." [HPO:gcarletti] comment: This category is meant to contain biochemical abnormalities indicative of abnormal protein sugar modifications. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality of a `glycoprotein metabolic process` (GO:0009100)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-18T08:14:00Z [Term] id: HP:0004368 name: Increased purine levels is_a: HP:0004352 ! Abnormality of purine metabolism created_by: peter creation_date: 2008-03-18T06:31:00Z [Term] id: HP:0004369 name: Decreased purine levels is_a: HP:0004352 ! Abnormality of purine metabolism created_by: peter creation_date: 2008-03-18T06:32:00Z [Term] id: HP:0004370 name: Abnormality of temperature regulation def: "An abnormality of temperature homeostasis." [HPO:probinson] synonym: "Body temperature changes" RELATED [] synonym: "Poor temperature regulation" EXACT [] xref: UMLS:C1832160 "Poor temperature regulation" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality of `temperature homeostasis` (GO:0001659)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T06:34:00Z [Term] id: HP:0004371 name: Abnormality of glycosaminoglycan metabolism def: "Abnormality of glycosaminoglycan metabolism." [HPO:probinson] comment: A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan. is_a: HP:0011012 ! Abnormality of polysaccharide metabolism property_value: HP:0040005 "Abnormality of `glycosaminoglycan` (CHEBI:18085) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T06:36:00Z [Term] id: HP:0004372 name: Reduced consciousness/confusion synonym: "Disturbances of consciousness" EXACT [] synonym: "Lowered consciousness" EXACT [] is_a: HP:0011446 ! Abnormality of higher mental function created_by: peter creation_date: 2008-03-18T07:12:00Z [Term] id: HP:0004373 name: Focal dystonia alt_id: HP:0007140 def: "A type of dystonia that is localized to a specific part of the body." [HPO:probinson] xref: UMLS:C0743332 "Focal Dystonia" is_a: HP:0001332 ! Dystonia property_value: HP:0040005 "A type of `dystonia` (HP:0001332) that is localized to a specific part of the body." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T07:33:00Z [Term] id: HP:0004374 name: Hemiplegia/hemiparesis def: "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators] is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction created_by: peter creation_date: 2008-03-18T07:35:00Z [Term] id: HP:0004375 name: Neoplasm of the nervous system def: "A tumor (abnormal growth of tissue) of the nervous system." [HPO:probinson] synonym: "Neoplasia of the nervous system" RELATED [] synonym: "Tumor of the nervous system" EXACT [HPO:sdoelken] is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0012639 ! Abnormality of nervous system morphology property_value: HP:0040005 "A `neoplasm` (MPATH:218) affecting the `nervous system` (FMA:7157)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T07:38:00Z [Term] id: HP:0004376 name: Neuroblastic tumors comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. xref: UMLS:C1334953 "Neuroblastic Tumor" is_a: HP:0100836 ! Malignant neoplasm of the central nervous system created_by: peter creation_date: 2008-03-18T07:39:00Z [Term] id: HP:0004377 name: Hematological neoplasm xref: MeSH:D019337 "Hematological Neoplasms" xref: UMLS:C0376545 "Hematological Neoplasm" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2008-03-18T07:44:00Z [Term] id: HP:0004378 name: Abnormality of the anus def: "Abnormality of the anal canal." [HPO:probinson] comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus. is_a: HP:0012732 ! Anorectal anomaly property_value: HP:0040005 "Abnormality of the `anal canal` (FMA:15703)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T08:11:00Z [Term] id: HP:0004379 name: Abnormality of alkaline phosphatase activity def: "An abnormality of alkaline phosphatase activity." [HPO:probinson] comment: Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease. synonym: "Alkaline phosphytase abnormal" RELATED [] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: HP:0040005 "An abnormality of `alkaline phosphatase activity` (GO:0004035)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T08:13:00Z [Term] id: HP:0004380 name: Aortic valve calcification def: "Deposition of calcium salts in the aortic valve." [HPO:probinson] xref: UMLS:C0428791 "Aortic valve calcification" is_a: HP:0001646 ! Abnormality of the aortic valve is_a: HP:0005146 ! Cardiac valve calcification created_by: peter creation_date: 2008-03-18T08:52:00Z [Term] id: HP:0004381 name: Supravalvular aortic stenosis def: "A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow." [HPO:probinson] xref: MeSH:D021921 "Aortic Stenosis, Supravalvular" xref: UMLS:C0003499 "Supravalvular aortic stenosis" is_a: HP:0001650 ! Aortic valve stenosis created_by: peter creation_date: 2008-03-18T08:54:00Z [Term] id: HP:0004382 name: Mitral valve calcification def: "Abnormal calcification of the mitral valve." [HPO:probinson] xref: UMLS:C0919718 "Mitral valve calcification" is_a: HP:0001633 ! Abnormality of the mitral valve is_a: HP:0005146 ! Cardiac valve calcification property_value: HP:0040005 "Abnormal calcification of the `mitral valve` (FMA:7235)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T08:55:00Z [Term] id: HP:0004383 name: Hypoplastic left heart def: "Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta." [HPO:probinson] xref: UMLS:C0152101 "Hypoplastic left heart" is_a: HP:0001961 ! Hypoplastic heart is_a: HP:0045017 ! Congenital malformation of the left heart created_by: peter creation_date: 2008-03-18T08:56:00Z [Term] id: HP:0004384 name: Type I truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Type 1 truncus arteriosus" EXACT [] xref: UMLS:C1834934 "Type truncus arteriosus" is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2008-03-18T08:57:00Z [Term] id: HP:0004385 name: Protracted diarrhea xref: UMLS:C0473133 "Protracted diarrhea" is_a: HP:0002014 ! Diarrhea created_by: peter creation_date: 2008-03-18T09:00:00Z [Term] id: HP:0004386 name: Gastrointestinal inflammation is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-03-18T09:01:00Z [Term] id: HP:0004387 name: Enterocolitis def: "An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine)." [HPO:sdoelken] xref: MeSH:D004760 "Enterocolitis" xref: UMLS:C0014356 "Enterocolitis" is_a: HP:0004386 ! Gastrointestinal inflammation is_a: HP:0100282 ! Acute colitis created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004388 name: Microcolon def: "A colon of abnormally small caliber." [pmid:3484569] synonym: "MICROCOLON ON CONTRAST ENEMA" RELATED [HPO:skoehler] xref: SNOMEDCT:18389004 "Microcolon" xref: UMLS:C0266200 "Microcolon" is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004389 name: Intestinal pseudo-obstruction def: "A functional rather than mechanical obstruction of the intestines." [HPO:probinson] xref: MeSH:D007418 "Intestinal Pseudo-Obstruction" xref: UMLS:C0021847 "Intestinal Pseudo-Obstruction" is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0002579 ! Gastrointestinal dysmotility created_by: peter creation_date: 2008-03-18T09:03:00Z [Term] id: HP:0004390 name: Hamartomatous polyps def: "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract." [HPO:sdoelken] comment: Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps. synonym: "GASTROINTESTINAL HAMARTOMATOUS POLYPS" RELATED [HPO:skoehler] xref: UMLS:C0334092 "Hamartomatous polyps" is_a: HP:0005266 ! Intestinal polyp is_a: HP:0010566 ! Hamartoma created_by: peter creation_date: 2008-03-18T09:04:00Z [Term] id: HP:0004392 name: Prune belly def: "A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants." [HPO:probinson] comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. xref: UMLS:C0033770 "prune belly" is_a: HP:0004298 ! Abnormality of the abdominal wall property_value: HP:0040005 "A kind of congenital defect of the anterior `abdominal wall` (FMA:259054) in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:08:00Z [Term] id: HP:0004394 name: Multiple gastric polyps xref: UMLS:C0236048 "Multiple gastric polyps" is_a: HP:0006753 ! Neoplasm of the stomach created_by: peter creation_date: 2008-03-18T09:11:00Z [Term] id: HP:0004395 name: Malnutrition xref: MeSH:D044342 "Malnutrition" is_a: HP:0011458 ! Abdominal symptom created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004396 name: Poor appetite xref: UMLS:C0232462 "Poor appetite" is_a: HP:0011458 ! Abdominal symptom created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004397 name: Ectopic anus def: "Abnormal displacement or malposition of the anus." [HPO:probinson] subset: hposlim_core synonym: "Anus malposition" EXACT [] xref: UMLS:C0266231 "Ectopic anus" is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2008-03-18T09:13:00Z [Term] id: HP:0004398 name: Peptic ulcer def: "An ulcer of the gastrointestinal tract." [HPO:probinson] comment: A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer. xref: MeSH:D010437 "Peptic Ulcer" xref: UMLS:C0030920 "Peptic Ulcer" is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: HP:0040005 "An `ulcer` (MPATH:579) of the `gastrointestinal tract` (FMA:71132)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:14:00Z [Term] id: HP:0004399 name: Congenital pyloric atresia def: "Congenital atresia of the pylorus." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:27729002 "Pyloric atresia" xref: UMLS:C0266159 "Pyloric atresia" is_a: HP:0004400 ! Abnormality of the pylorus property_value: HP:0040005 "`Congenital` (HP:0003577) atresia of the `pylorus` (FMA:14581)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004400 name: Abnormality of the pylorus def: "An abnormality of the pylorus." [HPO:probinson] is_a: HP:0002577 ! Abnormality of the stomach property_value: HP:0040005 "An abnormality of the `pylorus` (FMA:14581)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004401 name: Meconium ileus alt_id: HP:0002610 alt_id: HP:0004402 def: "Obstruction of the intestine due to abnormally thick meconium." [HPO:probinson] comment: Obstruction of the intestine is known as ileus. synonym: "Distal intestinal obstruction syndrome" RELATED [] synonym: "Meconium ileus in neonates" EXACT [] synonym: "MECONIUM ILEUS ON ULTRASONOGRAPHY" RELATED [HPO:skoehler] xref: UMLS:C0270246 "Meconium ileus" xref: UMLS:C0398349 "Distal intestinal obstruction syndrome" is_a: HP:0010676 ! Mechanical ileus created_by: peter creation_date: 2008-03-18T09:16:00Z [Term] id: HP:0004403 name: Proximal esophageal atresia is_a: HP:0002032 ! Esophageal atresia created_by: peter creation_date: 2008-03-18T09:17:00Z [Term] id: HP:0004404 name: Abnormality of the nipple def: "An abnormality of the nipple." [HPO:probinson] subset: hposlim_core is_a: HP:0000769 ! Abnormality of the breast property_value: HP:0040005 "An abnormality of the `nipple` (FMA:67771)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:18:00Z [Term] id: HP:0004405 name: Prominent nipples subset: hposlim_core xref: UMLS:C1855513 "Prominent nipples" is_a: HP:0004404 ! Abnormality of the nipple created_by: peter creation_date: 2008-03-18T09:19:00Z [Term] id: HP:0004406 name: Spontaneous, recurrent epistaxis alt_id: HP:0003684 synonym: "Recurrent epistaxes" EXACT [] synonym: "Recurrent epistaxis" EXACT [] xref: UMLS:C0743554 "recurrent epistaxis" is_a: HP:0000421 ! Epistaxis created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004407 name: Bony paranasal bossing xref: UMLS:C1857499 "Bony paranasal bossing" is_a: HP:0012812 ! Fullness of paranasal tissue created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004408 name: Abnormality of the sense of smell alt_id: HP:0004410 def: "An anomaly in the ability to perceive and distinguish scents (odors)." [] subset: hposlim_core synonym: "Abnormality of olfaction" EXACT [] synonym: "Smell defect" EXACT [] is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004409 name: Hyposmia def: "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:probinson] subset: hposlim_core synonym: "Decreased smell sensation" EXACT [] synonym: "Sense of smell impaired" EXACT [] xref: SNOMEDCT:83156004 "Sense of smell impaired" xref: UMLS:C0234260 "Hyposmia" is_a: HP:0004408 ! Abnormality of the sense of smell created_by: peter creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004411 name: Deviated nasal septum def: "Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:126660000 "Deviated nasal septum" xref: UMLS:C0549397 "Deviated nasal septum" is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2008-03-18T09:23:00Z [Term] id: HP:0004414 name: Abnormality of the pulmonary artery def: "An abnormality of the pulmonary artery." [HPO:probinson] is_a: HP:0004930 ! Abnormality of the pulmonary vasculature property_value: HP:0040005 "An abnormality of the `pulmonary artery` (FMA:66326)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004415 name: Pulmonary artery stenosis def: "An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches." [HPO:probinson] xref: UMLS:C0265911 "Pulmonary artery stenosis" is_a: HP:0004414 ! Abnormality of the pulmonary artery created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004416 name: Precocious atherosclerosis synonym: "Premature atherosclerosis" EXACT [] xref: UMLS:C1867742 "Premature atherosclerosis" is_a: HP:0002621 ! Atherosclerosis created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004417 name: Intermittent claudication comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. xref: MeSH:D007383 "Intermittent Claudication" xref: UMLS:C0021775 "Intermittent Claudication" is_a: HP:0030163 ! Abnormal vascular physiology created_by: peter creation_date: 2008-03-18T09:29:00Z [Term] id: HP:0004418 name: Thrombophlebitis def: "Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson] xref: MeSH:D013924 "Thrombophlebitis" xref: UMLS:C0040046 "Thrombophlebitis" is_a: HP:0004936 ! Venous thrombosis created_by: peter creation_date: 2008-03-18T09:30:00Z [Term] id: HP:0004419 name: Recurrent thrombophlebitis def: "Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson] synonym: "Recurrent phlebitis" EXACT [] synonym: "Recurrent thrombosis" EXACT [] is_a: HP:0004418 ! Thrombophlebitis created_by: peter creation_date: 2008-03-18T09:31:00Z [Term] id: HP:0004420 name: Arterial thrombosis def: "The formation of a blood clot inside an artery." [HPO:probinson] xref: UMLS:C0151942 "Arterial thrombosis" is_a: HP:0001977 ! Abnormal thrombosis created_by: peter creation_date: 2008-03-18T09:32:00Z [Term] id: HP:0004421 name: Elevated systolic blood pressure alt_id: HP:0004956 def: "Abnormal increase in systolic blood pressure." [HPO:probinson] comment: Normal systolic blood pressure is less than 120 mmHg in adults. xref: UMLS:C1840374 "Elevated systolic blood pressure" is_a: HP:0000822 ! Hypertension created_by: peter creation_date: 2008-03-18T09:33:00Z [Term] id: HP:0004422 name: Biparietal narrowing def: "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] xref: UMLS:C1854418 "Biparietal narrowing" is_a: HP:0002648 ! Abnormality of calvarial morphology created_by: peter creation_date: 2008-03-18T09:35:00Z [Term] id: HP:0004423 name: Cranium bifidum occultum xref: UMLS:C1868598 "Cranium bifidum occultum" is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2008-03-18T09:37:00Z [Term] id: HP:0004425 name: Flat forehead alt_id: HP:0004659 def: "A forehead with abnormal flatness." [HPO:probinson] synonym: "Flattened forehead" EXACT [] xref: UMLS:C1857485 "Flattened forehead" is_a: HP:0000290 ! Abnormality of the forehead created_by: peter creation_date: 2008-03-18T09:41:00Z [Term] id: HP:0004426 name: Abnormality of the cheeks is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2008-03-18T09:42:00Z [Term] id: HP:0004428 name: Elfin facies def: "This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations." [HPO:probinson] subset: hposlim_core xref: UMLS:C0332606 "Elfin facies" is_a: HP:0001999 ! Abnormal facial shape created_by: peter creation_date: 2008-03-18T09:43:00Z [Term] id: HP:0004429 name: Recurrent viral infections def: "Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection." [HPO:probinson] xref: UMLS:C1837066 "Recurrent viral infections" is_a: HP:0002719 ! Recurrent infections created_by: peter creation_date: 2008-03-18T09:45:00Z [Term] id: HP:0004430 name: Severe combined immunodeficiency def: "Severe combine immunodeficiency (SCID) is a primary immune deficiency that is characterized by a severe defect in both the T- and B-lymphocyte systems." [HPO:curators] xref: MeSH:D016511 "Severe Combined Immunodeficiency" xref: UMLS:C0085110 "Severe Combined Immunodeficiency" is_a: HP:0005387 ! Combined immunodeficiency created_by: peter creation_date: 2008-03-18T09:46:00Z [Term] id: HP:0004431 name: Complement deficiency xref: UMLS:C0272242 "Complement deficiency" is_a: HP:0005339 ! Abnormality of complement system created_by: peter creation_date: 2008-03-18T09:51:00Z [Term] id: HP:0004432 name: Agammaglobulinemia alt_id: HP:0008328 def: "Absence or extremely low level of generally all classes of gamma-globulin in the blood." [HPO:probinson] synonym: "Agammaglobulinaemia" EXACT [] xref: MeSH:D000361 "Agammaglobulinemia" xref: UMLS:C0001768 "Agammaglobulinaemia" is_a: HP:0004313 ! Hypogammaglobulinemia is_a: HP:0010701 ! Abnormal immunoglobulin level created_by: peter creation_date: 2008-03-18T09:47:00Z [Term] id: HP:0004433 name: Secretory IgA deficiency def: "Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens." [HPO:probinson, pmid:2251975] xref: UMLS:C0162538 "Selective IgA deficiency" is_a: HP:0002720 ! IgA deficiency created_by: peter creation_date: 2008-03-18T09:48:00Z [Term] id: HP:0004434 name: C8 deficiency is_a: HP:0004431 ! Complement deficiency created_by: peter creation_date: 2008-03-18T09:53:00Z [Term] id: HP:0004437 name: Cranial hyperostosis alt_id: HP:0002698 def: "Excessive growth of the bones of cranium, i.e., of the skull." [HPO:probinson] synonym: "Hyperostosis of cranial vault" EXACT [] is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0100774 ! Hyperostosis property_value: HP:0040005 "Excessive growth of the `bones of cranium` (FMA:71325), i.e., of the skull." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004438 name: Hyperostosis frontalis interna def: "Bony overgrowth of the internal (endosteal) surface of the frontal bone." [HPO:probinson] xref: MeSH:D006957 "Hyperostosis frontalis interna" xref: UMLS:C0020494 "Hyperostosis Frontalis Interna" is_a: HP:0004437 ! Cranial hyperostosis property_value: HP:0040005 "Bony overgrowth of the internal (endosteal) surface of the `frontal bone` (FMA:52734)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004439 name: Craniofacial dysostosis def: "A characteristic appearance resulting from defective ossification of craniofacial bones." [HPO:probinson] comment: Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future. xref: MeSH:D003394 "Craniofacial Dysostosis" xref: UMLS:C0010273 "Craniofacial Dysostosis" is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000929 ! Abnormality of the skull created_by: peter creation_date: 2008-03-18T09:58:00Z [Term] id: HP:0004440 name: Coronal craniosynostosis alt_id: HP:0002675 alt_id: HP:0002685 alt_id: HP:0002739 alt_id: HP:0004441 def: "Premature closure of the coronal suture of skull." [HPO:probinson] subset: hposlim_core synonym: "Craniosynostosis (coronal)" EXACT [] xref: UMLS:C1856266 "Coronal craniosynostosis" is_a: HP:0001363 ! Craniosynostosis property_value: HP:0040005 "Premature closure of the `coronal suture of skull` (FMA:52928)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T09:59:00Z [Term] id: HP:0004442 name: Sagittal craniosynostosis def: "A kind of craniosynostosis affecting the sagittal suture." [HPO:probinson] subset: hposlim_core synonym: "Craniosynostosis, sagittal" EXACT [] synonym: "Craniosynostosis, sagittal suture" EXACT [] xref: UMLS:C0432123 "Sagittal craniosynostosis" is_a: HP:0001363 ! Craniosynostosis property_value: HP:0040005 "A kind of `craniosynostosis` (HP:0001363) affecting the `sagittal suture` (FMA:52929)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004443 name: Lambdoidal craniosynostosis alt_id: HP:0004486 def: "A kind of craniosynostosis affecting the lambdoidal suture." [HPO:probinson] subset: hposlim_core synonym: "Lambdoid craniosynostosis" EXACT [] is_a: HP:0001363 ! Craniosynostosis property_value: HP:0040005 "A kind of `craniosynostosis` (HP:0001363) affecting the lambdoidal suture." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004444 name: Spherocytosis alt_id: HP:0004816 def: "The presence of erythrocytes that are sphere-shaped." [HPO:probinson] comment: Erythrocytes are normally biconcave rather than spherical. xref: UMLS:C0553720 "Spherocytosis" is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004445 name: Elliptocytosis alt_id: HP:0004837 def: "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear." [HPO:probinson, pmid:16304353] synonym: "Hereditary elliptocytosis" RELATED [] xref: UMLS:C0427480 "Elliptocytosis" is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004446 name: Stomatocytosis alt_id: HP:0004801 def: "The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear." [HPO:probinson, pmid:16304353] synonym: "erythrocyte stomatocytes" EXACT [] synonym: "Red cell stomatocytosis" EXACT [] xref: UMLS:C0272048 "Stomatocytosis" is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004447 name: Poikilocytosis def: "The presence of abnormally shaped erythrocytes." [HPO:probinson] comment: General description for abnormally shaped erythrocytes. xref: UMLS:C0221281 "Poikilocytosis" is_a: HP:0001877 ! Abnormality of erythrocytes property_value: HP:0040005 "The presence of abnormally shaped `erythrocytes` (CL:0000232)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-18T10:06:00Z [Term] id: HP:0004448 name: Fulminant hepatic failure def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] xref: UMLS:C0162557 "Liver Failure, Acute" is_a: HP:0006554 ! Acute hepatic failure created_by: peter creation_date: 2008-03-18T10:09:00Z [Term] id: HP:0004450 name: Preauricular skin furrow def: "A groove of the skin immediately in front of the ear." [HPO:probinson] synonym: "Preauricular skin furrows" EXACT [] is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0004451 name: Postauricular skin tag def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear)." [HPO:probinson] is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0004452 name: Abnormality of the middle ear ossicles alt_id: HP:0001759 def: "An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea)." [HPO:probinson] subset: hposlim_core synonym: "Malformed ossicles" EXACT [] synonym: "Ossicular malformation" EXACT [] xref: UMLS:C1836678 "Malformed ossicles" is_a: HP:0008609 ! Morphological abnormality of the middle ear [Term] id: HP:0004453 name: Overfolding of the superior helices def: "A condition in which the superior portion of the helix is folded over to a greater degree than normal." [HPO:probinson] synonym: "Overfolding of superior helix" EXACT [] synonym: "Reduced anterior-posterior diameter of vertebral bodies" EXACT [] is_a: HP:0000396 ! Overfolded helix property_value: HP:0040005 "A condition in which the superior portion of the `helix` (FMA:60992) is `folded` (PATO:0001910) over to a greater degree than normal." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004454 name: Abnormal middle ear reflexes xref: UMLS:C1970887 "Abnormal middle ear reflexes" is_a: HP:0011452 ! Functional abnormality of the middle ear [Term] id: HP:0004458 name: Dilatated internal auditory canal def: "The presence of a dilated inner part of external acoustic meatus." [HPO:probinson] synonym: "Bulbous internal auditory canal" EXACT [] synonym: "Enlarged internal auditory canal" EXACT [] is_a: HP:0011384 ! Abnormality of the internal auditory canal property_value: HP:0040005 "The presence of a dilated `inner part of external acoustic meatus` (FMA:61307)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004459 name: Exostosis of the external auditory canal def: "A benign bony growth projecting outward from a bone surface within the external auditory canal." [HPO:probinson] synonym: "External auditory canal exostoses" EXACT [] xref: UMLS:C0155411 "External auditory canal exostosis" is_a: HP:0000372 ! Abnormality of the auditory canal is_a: HP:0040095 ! Neoplasm of the outer ear is_a: HP:0100777 ! Exostoses [Term] id: HP:0004461 name: Congenital earlobe sinuses synonym: "Posterior wedging" EXACT [] is_a: HP:0000363 ! Abnormality of earlobe [Term] id: HP:0004463 name: Absent brainstem auditory responses def: "Lack of measurable response to stimulation of auditory evoked potentials." [HPO:probinson] synonym: "No auditory brainstem response" EXACT [] xref: UMLS:C1836742 "Absent brainstem auditory responses" is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004464 name: Postauricular pit def: "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] subset: hposlim_core synonym: "Posterior auricular pit" EXACT [] synonym: "Posterior auricular sinus" EXACT [] xref: UMLS:C1862058 "Posterior auricular pit" is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004466 name: Prolonged brainstem auditory evoked potentials is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004467 name: Preauricular pit alt_id: HP:0000392 alt_id: HP:0004460 alt_id: HP:0005118 alt_id: HP:0008552 alt_id: HP:0008578 def: "Small indentation anterior to the insertion of the ear." [HPO:sdoelken, pmid:19152421] comment: Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. synonym: "Preauricular earpits" EXACT [] synonym: "Preauricular fistulas" EXACT [] synonym: "Preauricular pits" EXACT [] synonym: "Preauricular sinus" EXACT [] xref: UMLS:C0266610 "Preauricular pit" is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004468 name: Anomalous tracheal cartilage xref: UMLS:C1863406 "Anomalous tracheal cartilage" is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0004469 name: Chronic bronchitis def: "Chronic inflammation of the bronchi." [HPO:probinson] xref: MeSH:D029481 "Bronchitis, Chronic" xref: UMLS:C0008677 "Bronchitis, Chronic" is_a: HP:0002788 ! Recurrent upper respiratory tract infections is_a: HP:0012387 ! Bronchitis [Term] id: HP:0004470 name: Atretic occipital cephalocele def: "A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues." [HPO:probinson] is_a: HP:0011815 ! Cephalocele [Term] id: HP:0004471 name: Aplasia cutis congenita over the scalp vertex def: "A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline." [HPO:curators] synonym: "Aplasia cutis congenita of vertex" EXACT [] is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004472 name: Mandibular hyperostosis def: "Hyperostosis (bony overgrowth) of the mandible." [HPO:probinson] comment: This bundled term will be made obsolete in future versions of the HPO. is_a: HP:0005465 ! Facial hyperostosis [Term] id: HP:0004474 name: Persistent open anterior fontanelle alt_id: HP:0004475 alt_id: HP:0004483 def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age." [HPO:probinson] synonym: "Anterior fontanelle open in adults" RELATED [] synonym: "Persistent, open anterior fontanel" EXACT [] xref: UMLS:C1849537 "Persistent open anterior fontanelle" is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004476 name: Aplasia cutis congenita over parietal area def: "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area." [HPO:curators] is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004478 name: Ethmoidal encephalocele xref: UMLS:C1843495 "Ethmoidal encephalocele" is_a: HP:0011817 ! Basal encephalocele [Term] id: HP:0004481 name: Progressive macrocephaly alt_id: HP:0000261 def: "The progressive development of an abnormally large skull." [HPO:probinson] synonym: "Macrocephaly, progressive" EXACT [] xref: UMLS:C1859896 "Macrocephaly, progressive" is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004482 name: Relative macrocephaly alt_id: HP:0000257 alt_id: HP:0001364 def: "A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account." [HPO:curators] synonym: "Disproportionately large head" EXACT [] synonym: "Macrocephaly, relative" EXACT [] synonym: "Relatively large head" EXACT [] xref: UMLS:C1849075 "Macrocephaly, relative" is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004484 name: Craniofacial asymmetry def: "Asymmetry of the bones of the skull and the face." [HPO:curators] is_a: HP:0000267 ! Cranial asymmetry is_a: HP:0000324 ! Facial asymmetry is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0004485 name: Cessation of head growth def: "Stagnation of head growth seen as flattening of the head circumference curve." [HPO:probinson] is_a: HP:0005484 ! Postnatal microcephaly [Term] id: HP:0004487 name: Acrobrachycephaly def: "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures." [HPO:curators] xref: UMLS:C1863395 "Acrobrachycephaly" is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0004488 name: Macrocephaly at birth def: "The presence of an abnormally large skull with onset at birth." [HPO:probinson] subset: hposlim_core synonym: "Head circumference large for gestational age" EXACT [] is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004490 name: Calvarial hyperostosis def: "Excessive growth of the calvaria." [HPO:probinson] comment: The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw. xref: UMLS:C1863351 "CALVARIAL HYPEROSTOSIS" is_a: HP:0004437 ! Cranial hyperostosis property_value: HP:0040005 "Excessive growth of the `calvaria` (FMA:52800)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004491 name: Large posterior fontanelle def: "An enlargement of the posterior fontanelle relative to age-dependent norms." [HPO:probinson] synonym: "Large posterior fontanel" EXACT [] xref: UMLS:C1855233 "Large posterior fontanelle" is_a: HP:0000239 ! Large fontanelles property_value: HP:0040005 "An enlargement of the `posterior fontanelle` (FMA:75440) relative to age-dependent norms." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004492 name: Widely patent fontanelles and sutures alt_id: HP:0002646 alt_id: HP:0005492 def: "An abnormally increased width of the cranial fontanelles and sutures." [HPO:probinson] comment: This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures. synonym: "Widely patent fontanels and sutures" EXACT [] is_a: HP:0000239 ! Large fontanelles is_a: HP:0010537 ! Wide cranial sutures [Term] id: HP:0004493 name: Craniofacial hyperostosis def: "Excessive growth of the craniofacial bones." [HPO:probinson] subset: hposlim_core xref: UMLS:C1868085 "Craniofacial hyperostosis" is_a: HP:0000271 ! Abnormality of the face is_a: HP:0004437 ! Cranial hyperostosis is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0004495 name: Thin anteverted nares comment: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. is_a: HP:0000463 ! Anteverted nares [Term] id: HP:0004496 name: Posterior choanal atresia def: "Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture)." [HPO:curators] xref: UMLS:C0220723 "CHOANAL ATRESIA, POSTERIOR" is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004499 name: Chronic rhinitis due to narrow nasal airway is_a: HP:0002257 ! Chronic rhinitis [Term] id: HP:0004502 name: Bilateral choanal atresia def: "Bilateral absence (atresia) of the posterior nasal aperture (choana)." [HPO:probinson] is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004510 name: Pancreatic islet-cell hyperplasia alt_id: HP:0001736 alt_id: HP:0006275 def: "Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells." [HPO:probinson] comment: The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin). synonym: "Hyperplastic islets of langerhans" EXACT [] synonym: "Hypertrophic pancreatic islets" EXACT [] synonym: "Islet of Langerhans hyperplasia" EXACT [] synonym: "Islets of langerhans hypertrophy" EXACT [] synonym: "Pancreatic islet-cell hypertrophy" EXACT [] xref: UMLS:C1848697 "Pancreatic islet-cell hypertrophy" is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0004523 name: Long eyebrows def: "Increased length of the hairs of the eyebrows." [HPO:probinson] is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0004524 name: Temporal hypotrichosis def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [HPO:curators] is_a: HP:0011361 ! Congenital abnormal hair pattern [Term] id: HP:0004527 name: large clumps of pigment irregularly distributed along hair shaft is_a: HP:0002220 ! Melanin pigment aggregation in hair shafts [Term] id: HP:0004528 name: Generalized hypotrichosis alt_id: HP:0004513 def: "Reduced or lacking hair growth in a generalized distribution." [HPO:probinson] synonym: "Hypotrichosis, generalized" EXACT [] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004529 name: Atrophic, patchy alopecia is_a: HP:0002232 ! Patchy alopecia [Term] id: HP:0004532 name: Sacral hypertrichosis def: "Excessive, increased hair growth located in the sacral region." [HPO:probinson] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004535 name: Anterior cervical hypertrichosis alt_id: HP:0004517 alt_id: HP:0004773 def: "Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence." [HPO:probinson, pmid:20400390] synonym: "Congenital cervical hypertrichosis" EXACT [] synonym: "Hypertrichosis, congenital anterior cervical" EXACT [] xref: UMLS:C1838123 "HYPERTRICHOSIS, ANTERIOR CERVICAL" is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004540 name: Congenital, generalized hypertrichosis alt_id: HP:0004547 alt_id: HP:0004769 def: "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth." [HPO:probinson] comment: Hypertrichosis refers to excessive, abnormal hairiness. synonym: "Congenital generalized hypertrichosis" EXACT [] synonym: "Hypertrichosis universalis" EXACT [] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004544 name: Pointed frontal hairline is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0004552 name: Scarring alopecia of scalp is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0002293 ! Alopecia of scalp [Term] id: HP:0004554 name: Generalized hypertrichosis alt_id: HP:0004543 alt_id: HP:0004766 def: "Generalized excessive, abnormal hairiness." [HPO:probinson] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004557 name: Anterior vertebral fusion xref: UMLS:C1969393 "Anterior vertebral fusion" is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0004558 name: Cervical platyspondyly alt_id: HP:0005641 def: "A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine." [HPO:probinson] synonym: "Flattened cervical vertebral bodies" EXACT [] xref: UMLS:C1856641 "Cervical platyspondyly" is_a: HP:0000926 ! Platyspondyly is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004562 name: Beaking of vertebral bodies T12-L3 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004563 name: increased spinal bone density def: "Increased bone density affecting the bones of the spine (vertebral column)." [HPO:curators] synonym: "increased spinal bone density Z" RELATED [] is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004565 name: Severe platyspondyly alt_id: HP:0004564 synonym: "platyspondyly, extreme" EXACT [] xref: UMLS:C1850293 "Severe platyspondyly" is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004566 name: Pear-shaped vertebrae def: "Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours." [HPO:probinson, pmid:16167086] synonym: "Pear-shaped vertebral bodies" EXACT [] xref: UMLS:C1849076 "Pear-shaped vertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004568 name: Beaking of vertebral bodies alt_id: HP:0003313 alt_id: HP:0003315 alt_id: HP:0004569 alt_id: HP:0004577 alt_id: HP:0004584 alt_id: HP:0005122 def: "Anterior tongue-like protrusions of the vertebral bodies." [HPO:probinson] subset: hposlim_core synonym: "anterior beaking" EXACT [] synonym: "Anterior beaking of vertebrae" EXACT [] synonym: "Anterior beaking of vertebral bodies" EXACT [] synonym: "anterior wedging" EXACT [] synonym: "Beaked vertebral bodies" EXACT [] synonym: "Wedged vertebrae" EXACT [] xref: SNOMEDCT:19888007 "Wedging of vertebra" xref: UMLS:C0264112 "Wedging of vertebra" xref: UMLS:C1695776 "Vertebral wedging" xref: UMLS:C1970084 "Anterior wedging" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004570 name: Increased vertebral height alt_id: HP:0005693 def: "Increased top to bottom height of vertebral bodies." [HPO:probinson] synonym: "Tall vertebral bodies" EXACT [] xref: UMLS:C1855417 "Increased vertebral height" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004571 name: Widening of cervical spinal canal is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004573 name: Anterior wedging of T11 def: "An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] synonym: "Anterior wedging of the 11th thoracic vertebra" EXACT [] synonym: "Wedge-shaped 11th thoracic vertebra" EXACT [] is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0004575 name: fusion of midcervical facet joints is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004576 name: Sclerotic vertebral endplates def: "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators] synonym: "Large joint contractures" EXACT [] xref: UMLS:C1849273 "Sclerotic vertebral endplates" is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004580 name: Anterior scalloping of vertebral bodies def: "An excessive concavity of the anterior surface of one or more vertebral bodies." [HPO:curators] synonym: "Anterior scalloping vertebral bodies" RELATED [] is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0004581 name: Increased anterior vertebral height xref: UMLS:C1866732 "Increased anterior vertebral height" is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0004582 name: Irregularity of vertebral bodies is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004586 name: Biconcave vertebral bodies alt_id: HP:0002952 alt_id: HP:0004561 alt_id: HP:0004620 def: "Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward." [HPO:probinson] comment: This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies. subset: hposlim_core synonym: "Biconcave 'codfish' vertebrae" EXACT [] synonym: "Biconcave vertebrae" EXACT [] synonym: "Codfish vertebrae" EXACT [] synonym: "Fish vertebrae" EXACT [] synonym: "Scalloping of vertebral bodies" EXACT [] xref: UMLS:C1849077 "Codfish vertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004589 name: Dysplasia of second lumbar vertebra is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0004590 name: Hypoplastic sacrum xref: UMLS:C1970816 "Hypoplastic sacrum" is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0004591 name: Disc-like vertebral bodies is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004592 name: Thoracic platyspondyly def: "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine." [HPO:probinson] xref: UMLS:C1862428 "Thoracic platyspondyly" is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004594 name: hump-shaped mound of bone in central and posterior portions of vertebral endplate is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004598 name: Supernumerary vertebral ossification centers def: "Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine." [HPO:probinson] is_a: HP:0000926 ! Platyspondyly is_a: HP:0100569 ! Abnormal vertebral ossification [Term] id: HP:0004599 name: Absent or minimally ossified vertebral bodies is_a: HP:0100569 ! Abnormal vertebral ossification [Term] id: HP:0004601 name: Spina bifida occulta at L5 def: "The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin." [HPO:probinson] is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004602 name: Cervical vertebral fusion (C2/C3) alt_id: HP:0004636 def: "Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [HPO:probinson] synonym: "Fusion of cervical vertebrae c2-3" EXACT [] synonym: "Klippel-Feil syndrome" EXACT [] xref: MeSH:D007714 "Klippel-Feil Syndrome" is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004603 name: Hyperconvex vertebral body endplates is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004605 name: Absent vertebral body mineralization def: "A lack of bone mineralization of the vertebral bodies." [HPO:probinson] xref: UMLS:C1860191 "Absent vertebral body mineralization" is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies property_value: HP:0040005 "A lack of `bone mineralization` (GO:0030282) of the `vertebral bodies` (FMA:11945)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004606 name: Unossified vertebral bodies alt_id: HP:0008427 def: "A lack of ossification of the vertebral bodies." [HPO:probinson] xref: UMLS:C1860202 "Unossified vertebral bodies" is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies property_value: HP:0040005 "A lack of `ossification` ( GO:0001503) of the `vertebral bodies` (FMA:11945)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004607 name: Anterior beaking of lower thoracic vertebrae def: "Anterior tongue-like protrusions of the lower thoracic vertebral bodies." [HPO:probinson] is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004608 name: Anteriorly placed odontoid process def: "Anterior mislocalization of the dens of the axis." [HPO:probinson] is_a: HP:0003310 ! Abnormality of the odontoid process property_value: HP:0040005 "`Anterior mislocalization` (PATO:0001921) of the `dens of the axis` (FMA:24043)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004609 name: Patchy distortion of vertebrae is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004610 name: Lumbar spinal canal stenosis def: "An abnormal narrowing of the lumbar spinal canal." [HPO:probinson, pmid:3160275] comment: Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease). synonym: "Lumbar spinal stenosis" EXACT [] synonym: "Narrow lumbar spinal canal" EXACT [] is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0004611 name: Anterior concavity of thoracic vertebrae synonym: "Anteriorly concave vertebrae" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004612 name: cervical spine segmentation defects xref: UMLS:C1862415 "Cervical spine segmentation defects" is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0004614 name: spina bifida occulta at S1 def: "The closed form of spina bifida with incomplete closure of S1 with intact overlying skin." [HPO:probinson] xref: UMLS:C0080174 "Spina Bifida Occulta" is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004616 name: Cleft vertebral arch def: "A discontinuity of the vertebral arch (FMA:11946), i.e., of the posterior part of a vertebra." [HPO:probinson] synonym: "Cleft vertebral arches" RELATED [] xref: UMLS:C1859458 "Cleft vertebral arches" is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0004617 name: Butterfly vertebral arch def: "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends." [HPO:probinson] xref: UMLS:C1861627 "Butterfly vertebral arch" is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0004618 name: Sandwich appearance of vertebral bodies is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004619 name: Lumbar kyphoscoliosis xref: UMLS:C1834953 "Lumbar kyphoscoliosis" is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0004626 ! Lumbar scoliosis is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0004621 name: Enlarged vertebral pedicles def: "Increased size of the vertebral pedicle." [HPO:probinson] comment: The vertebral pedicales are the two short, thick processes, which connect the body of the spinal vertebra to the arch. is_a: HP:0008438 ! Vertebral arch anomaly property_value: HP:0040005 "Increased size of the `vertebral pedicle` (FMA:11950)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004622 name: Progressive intervertebral space narrowing def: "A progressive form of decreased height of the intervertebral disk." [HPO:probinson] xref: UMLS:C1837670 "Progressive intervertebral space narrowing" is_a: HP:0002945 ! Intervertebral space narrowing property_value: HP:0040005 "A `progressive` (PATO:0001818) form of `decreased height` (PATO:0000569) of the `intervertebral disk` (FMA:10446)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004625 name: Biconvex vertebral bodies def: "Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates." [HPO:probinson] comment: Note that biconvex vertebral bodies can be a normal finding in newborns. xref: UMLS:C1866675 "Biconvex vertebral bodies" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004626 name: Lumbar scoliosis is_a: HP:0002944 ! Thoracolumbar scoliosis [Term] id: HP:0004629 name: Small cervical vertebral bodies alt_id: HP:0008429 def: "Reduced size of cervical vertebrae." [HPO:probinson] synonym: "Small cervical vertebrae" EXACT [] xref: UMLS:C1851130 "Small cervical vertebral bodies" is_a: HP:0008479 ! Hypoplastic vertebral bodies property_value: HP:0040005 "Reduced size of `cervical vertebrae` (FMA:72063)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004630 name: Anterior beaking of thoracic vertebrae def: "Anterior tongue-like protrusions of thoracic vertebral bodies." [HPO:probinson] is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004631 name: Decreased cervical spine flexion due to contractures of posterior cervical muscles synonym: "Contracture of post-cervical muscles" EXACT [] is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0004632 name: cervical segmentation defects is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0004633 name: Lower thoracic kyphosis def: "Over curvature of the lower thoracic region, leading to a round back or if sever to a hump." [HPO:probinson] xref: UMLS:C1864361 "Lower thoracic kyphosis" is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0004634 name: Cuboid-shaped vertebral bodies synonym: "Cuboid vertebral bodies" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004635 name: Cervical vertebrae fusion (C5/C6) def: "Fusion of the C5 and C6 cervical vertebrae." [HPO:probinson] is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004637 name: Decreased cervical spine mobility xref: UMLS:C1859692 "Decreased cervical spine mobility" is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004639 name: Elevated amniotic fluid alpha-fetoprotein alt_id: HP:0005985 def: "An elevation of alpha-feto protein measured in the amniotic fluid." [HPO:curators] comment: This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele. xref: UMLS:C1839860 "Elevated amniotic fluid alpha-fetoprotein" is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0004646 name: Hypoplasia of the nasal bone def: "Underdevelopment of the nasal bone." [HPO:probinson] synonym: "Nasal bone hypoplasia" EXACT [] is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone property_value: HP:0040005 "Underdevelopment of the `nasal bone` (FMA:52745)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004660 name: Hypoplasia of facial musculature is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0004661 name: Frontalis muscle weakness def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [HPO:curators] synonym: "Weak frontalis muscle" EXACT [] xref: UMLS:C1845121 "Frontalis muscle weakness" is_a: HP:0010628 ! Facial palsy [Term] id: HP:0004664 name: Facial midline hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face." [HPO:curators] xref: UMLS:C1862496 "Facial midline hemangioma" is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0004673 name: Decreased facial expression def: "A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions." [HPO:probinson] xref: UMLS:C1862474 "Decreased facial expression" is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0004676 name: prominent supraorbital arches in adult is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0004679 name: Large tarsal bones xref: UMLS:C1859116 "Large tarsal bones" is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004681 name: Deep longitudinal plantar crease def: "Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot." [pmid:19125433] subset: hposlim_core synonym: "Longitudinal groove on soles" EXACT [] is_a: HP:0001869 ! Deep plantar creases [Term] id: HP:0004684 name: Talipes valgus def: "Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot." [HPO:probinson] comment: The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone). xref: UMLS:C1868564 "Ankle valgus deformity" is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0004686 name: Short third metatarsal alt_id: HP:0010673 def: "Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone." [HPO:probinson] synonym: "Hypoplasia of the 3rd metatarsal bone" EXACT [] is_a: HP:0010672 ! Abnormality of the third metatarsal bone is_a: HP:0010743 ! Short metatarsal property_value: HP:0040005 "Underdevelopment of the `Third metatarsal bone` (FMA:24504) leading to a short (hypoplastic) `third metatarsal bone` (FMA:24504)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004688 name: Irregular tarsal bones xref: UMLS:C1855240 "Irregular tarsal bones" is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004689 name: Short fourth metatarsal def: "Short fourth metatarsal bone." [HPO:probinson] synonym: "Bilateral fourth metatarsal shortening" EXACT [] synonym: "SHORT FOURTH METATARSALS" RELATED [HPO:skoehler] synonym: "Short fourth metatarsus" EXACT [] xref: UMLS:C1848514 "Short fourth metatarsals" is_a: HP:0010743 ! Short metatarsal is_a: HP:0040035 ! Abnormality of the fourth metatarsal bone property_value: HP:0040005 "Short `fourth metatarsal bone` (FMA:24505)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004690 name: Thickened Achilles tendon def: "An abnormal thickening of the Achilles tendon." [HPO:probinson] xref: UMLS:C0919997 "Thickened Achilles tendon" is_a: HP:0005109 ! Abnormality of the Achilles tendon property_value: HP:0040005 "An abnormal thickening of the `Achilles tendon` (FMA:51061)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004691 name: 2-3 toe syndactyly alt_id: HP:0001846 alt_id: HP:0001856 alt_id: HP:0003773 alt_id: HP:0004683 alt_id: HP:0004685 alt_id: HP:0004697 alt_id: HP:0004703 alt_id: HP:0008086 alt_id: HP:0008123 def: "Syndactyly with fusion of toes two and three." [HPO:sdoelken] synonym: "2-3 toe soft tissue syndactyly" EXACT [] synonym: "2-3 toes syndactyly" EXACT [] synonym: "Complete cutaneous syndactyly of second and third toes" EXACT [] synonym: "Cutaneous 2,3 toe syndactyly" EXACT [] synonym: "Cutaneous syndactyly of second and third toes" EXACT [] synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT [] synonym: "Syndactyly (2-3) (feet)" EXACT [] synonym: "Syndactyly of second and third toes" EXACT [] synonym: "TOE SYNDACTYLY, 2-3" EXACT [HPO:skoehler] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes two and three." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0004692 name: 4-5 toe syndactyly alt_id: HP:0005826 alt_id: HP:0005861 def: "Syndactyly with fusion of toes four and five." [HPO:sdoelken] synonym: "Symmetric syndactyly, toes 4 and 5" EXACT [] synonym: "Syndactyly of toes 4 and 5" EXACT [] is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes four and five." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0004695 name: Calcaneal epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus." [HPO:probinson] xref: UMLS:C1861708 "Calcaneal epiphyseal stippling" is_a: HP:0010655 ! Epiphyseal stippling property_value: HP:0040005 "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the `calcaneus` (FMA:24496)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004696 name: Talipes cavus equinovarus xref: UMLS:C1832342 "Talipes cavus equinovarus" is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0004699 name: Osteoporotic metatarsal def: "Decrease in mass and density of the metatarsal bones." [HPO:probinson] xref: UMLS:C1836873 "Osteoporotic metatarsal" is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0004704 name: Short fifth metatarsal alt_id: HP:0004702 alt_id: HP:0010671 def: "Short (hypoplastic) fifth metatarsal bone." [HPO:probinson] synonym: "Hypoplasia of the fifth metatarsal bone" EXACT [] is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone is_a: HP:0010743 ! Short metatarsal property_value: HP:0040005 "Short (hypoplastic) `fifth metatarsal bone` (FMA:24506)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004712 name: Renal malrotation alt_id: HP:0004730 def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney." [HPO:probinson] comment: The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation. synonym: "Abnormal rotation of the kidneys" EXACT [] synonym: "Malrotation of the kidney" EXACT [] is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004713 name: Reversible renal failure def: "Acute renal failure with resolution of manifestations." [HPO:probinson] is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0004717 name: Axial malrotation of the kidney def: "An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney." [HPO:probinson] is_a: HP:0004712 ! Renal malrotation [Term] id: HP:0004719 name: Hyperechogenic kidneys def: "An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal." [HPO:probinson] is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0004722 name: Thickening of the glomerular basement membrane def: "Increase in thickness of the basal lamina of the glomerulus of the kidney." [HPO:probinson] comment: This finding is demonstrated on renal biopsy. is_a: HP:0000095 ! Abnormality of the glomerulus [Term] id: HP:0004724 name: Calcium nephrolithiasis def: "The presence of calcium-containing calculi (stones) in the kidneys." [HPO:probinson] comment: The overwhelming majority of renal calculi contain calcium. xref: UMLS:C1855801 "Calcium nephrolithiasis" is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0004727 name: Impaired renal concentrating ability alt_id: HP:0005568 def: "A defect in the ability to concentrate the urine." [HPO:probinson] comment: An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation. synonym: "Urine concentrating defect" EXACT [] synonym: "Urine concentration defect" EXACT [] xref: UMLS:C1859819 "Impaired renal concentrating ability" xref: UMLS:C1969145 "Urine concentration defect" is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0004729 name: Acute tubulointerstitial nephritis def: "Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HPO:probinson] is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004732 name: Impaired renal uric acid clearance def: "A reduction in the ability of the kidneys to remove uric acid from the serum." [HPO:probinson] xref: UMLS:C1969371 "Impaired renal uric acid clearance" is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0004734 name: Renal cortical microcysts alt_id: HP:0000814 def: "Cysts of microscopic size confined to the cortex of the kidney." [Eurenomics:ewuehl] synonym: "Cortical microcysts" EXACT [] synonym: "Multiple renal cortical microcysts" EXACT [] synonym: "Multiple small renal cortical cysts" EXACT [] xref: UMLS:C1859232 "Renal cortical microcysts" is_a: HP:0000803 ! Renal cortical cysts property_value: HP:0040005 "Cysts of microscopic size confined to the `cortex of the kidney` (FMA:15581)." xsd:string {xref="Eurenomics:ewuehl"} [Term] id: HP:0004736 name: Crossed fused renal ectopia def: "A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys." [HPO:probinson] synonym: "Ectopic kidney with fusion" EXACT [] is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0004737 name: Global glomerulosclerosis def: "Complete and diffuse scarring of glomerulus." [Eurenomics:ewuehl] comment: All portions of all glomeruli are affected. xref: UMLS:C1865276 "Global glomerulosclerosis" is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0004742 name: Abnormality of the renal collecting system alt_id: HP:0004731 def: "An abnormality of the renal collecting system." [HPO:probinson] synonym: "Abnormal collecting system" EXACT [] synonym: "Renal collecting system anomalies" EXACT [] xref: UMLS:C1851303 "Abnormal collecting system" is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "An abnormality of the `renal collecting system` (FMA:265239)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004743 name: Chronic tubulointerstitial nephritis def: "Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HPO:probinson] xref: UMLS:C0238304 "Chronic tubulointerstitial nephritis" is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004746 name: Dense deposit disease def: "A type of membranoproliferative glomerulonephritis characterized by electron dense deposits at the glomerular basement membrane." [Eurenomics:ewuehl, pmid:20301598] synonym: "Membranoproliferative glomerulonephritis type II" EXACT [] xref: UMLS:C0268743 "Membranoproliferative glomerulonephritis type II" is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0004749 name: Atrial flutter def: "A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit." [HPO:probinson] comment: Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent. xref: MeSH:D001282 "Atrial flutter" is_a: HP:0001692 ! Primary atrial arrhythmia [Term] id: HP:0004751 name: Paroxysmal ventricular tachycardia xref: UMLS:C0030591 "Paroxysmal ventricular tachycardia" is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004752 name: Congenital atrioventricular dissociation def: "A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset." [HPO:probinson] is_a: HP:0011709 ! Atrioventricular dissociation [Term] id: HP:0004754 name: Permanent atrial fibrillation def: "AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent." [HPO:probinson, pmid:12860883] comment: The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic. synonym: "Chronic atrial fibrillation" RELATED [] is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004755 name: Supraventricular tachycardia def: "Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles." [DDD:dbrown, HPO:probinson] comment: A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular. synonym: "Supraventricular tachyarrhythmia" EXACT [] xref: MeSH:D013617 "Tachycardia, Supraventricular" xref: UMLS:C1698480 "Supraventricular tachyarrhythmia" is_a: HP:0001649 ! Tachycardia is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0004756 name: Ventricular tachycardia xref: MeSH:D017180 "Tachycardia, Ventricular" xref: UMLS:C1963247 "Ventricular tachycardia" is_a: HP:0001649 ! Tachycardia [Term] id: HP:0004757 name: Paroxysmal atrial fibrillation def: "Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously." [HPO:probinson] synonym: "ATRIAL FIBRILLATION, PAROXYSMAL" EXACT [HPO:skoehler] xref: UMLS:C0235480 "Paroxysmal atrial fibrillation" is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004758 name: Effort-induced polymorphic ventricular tachycardias is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004759 name: Nodular calcific aortic valve disease is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0004760 name: Congenital septal defect synonym: "Congenital septal defects" EXACT [] xref: UMLS:C0018816 "Congenital septal defects" is_a: HP:0001671 ! Abnormality of the cardiac septa [Term] id: HP:0004761 name: Post-angioplasty coronary artery restenosis is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0004762 name: Hypoplasia of right ventricle alt_id: HP:0004951 is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0004763 name: Paroxysmal supraventricular tachycardia alt_id: HP:0004765 def: "An episodic form of supraventricular tachycardia with abrupt onset and termination." [pmid:18025404] comment: PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT). synonym: "Episodic supraventricular tachycardia" EXACT [] xref: UMLS:C0030590 "Paroxysmal supraventricular tachycardia" is_a: HP:0004755 ! Supraventricular tachycardia [Term] id: HP:0004764 name: Myxomatous mitral valve degeneration def: "Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view." [HPO:probinson, pmid:21143934] is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0004768 name: Sparse anterior scalp hair def: "Decreased number of head hairs per unit area on the anterior region of the scalp." [HPO:probinson] xref: UMLS:C1866246 "Sparse anterior scalp hair" is_a: HP:0000599 ! Abnormality of the frontal hairline is_a: HP:0002209 ! Sparse scalp hair property_value: HP:0040005 "Decreased number of `head hairs` (FMA:54241) per unit area on the anterior region of the scalp." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004771 name: Premature graying of body hair is_a: HP:0002216 ! Premature graying of hair [Term] id: HP:0004779 name: Brittle scalp hair alt_id: HP:0004776 def: "Fragile, easily breakable scalp hair." [DDD:cmoss] is_a: HP:0002299 ! Brittle hair [Term] id: HP:0004780 name: Elbow hypertrichosis def: "Excessive, increased hair growth located in the elbow region." [HPO:probinson] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004782 name: Hypotrichosis of the scalp alt_id: HP:0004526 def: "Reduced or lacking hair growth of the scalp." [HPO:curators] synonym: "Hypotrichosis on scalp" EXACT [] synonym: "Scalp hypotrichosis" EXACT [] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004783 name: Duodenal polyposis def: "Presence of multiple polyps in the duodenum." [HPO:probinson] synonym: "Multiple duodenal polyps" EXACT [] xref: UMLS:C0940442 "Multiple duodenal polyps" is_a: HP:0030256 ! Small intestinal polyposis [Term] id: HP:0004784 name: Juvenile gastrointestinal polyposis is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0004785 name: Malrotation of colon def: "An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis." [HPO:probinson] is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004786 name: Jejunal diverticula is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004787 name: Fulminant hepatitis def: "Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice." [HPO:probinson, pmid:18825677] comment: Note that different definitions of fulminant hepatitis are used in the medical literature. xref: UMLS:C0302809 "Fulminant hepatitis" is_a: HP:0004448 ! Fulminant hepatic failure is_a: HP:0012115 ! Hepatitis [Term] id: HP:0004788 name: Intestinal lymphedema def: "Fluid retention and edema in the intestine caused by a compromised lymphatic system." [HPO:probinson] is_a: HP:0001004 ! Lymphedema is_a: HP:0005225 ! Intestinal edema [Term] id: HP:0004789 name: Lactose intolerance def: "An inability to digest lactose." [HPO:probinson] xref: MeSH:D007787 "Lactose Intolerance" xref: UMLS:C0022951 "Lactose Intolerance" is_a: HP:0002024 ! Malabsorption [Term] id: HP:0004790 name: Hypoplasia of the small intestine def: "Underdevelopment of the small intestine." [HPO:probinson] is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0005245 ! Intestinal hypoplasia [Term] id: HP:0004791 name: Esophageal ulceration def: "Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus." [HPO:probinson] xref: UMLS:C0151970 "ESOPHAGEAL ULCERATION" is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0004792 name: Rectoperineal fistula def: "The presence of a fistula between the perineum and the rectum." [HPO:probinson] xref: UMLS:C0240880 "RECTOPERINEAL FISTULA" is_a: HP:0004871 ! Perineal fistula is_a: HP:0100590 ! Rectal fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) between the `perineum` (FMA:9579) and the `rectum` (FMA:14544)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004794 name: Malrotation of small bowel def: "A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel." [HPO:probinson] comment: Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus. synonym: "Malrotation of the small intestine" EXACT [] is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004795 name: Hamartomatous stomach polyps def: "Polyp-like protrusions which are histologically hamartomas located in the stomach." [HPO:probinson] xref: UMLS:C1862304 "Hamartomatous stomach polyps" is_a: HP:0004390 ! Hamartomatous polyps is_a: HP:0006753 ! Neoplasm of the stomach [Term] id: HP:0004796 name: Gastrointestinal obstruction xref: UMLS:C0236124 "Gastrointestinal obstruction" is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0004797 name: Multiple small bowel atresias def: "The presence of multiple areas of atresia affecting the small intestine." [HPO:probinson] xref: UMLS:C1857476 "Multiple small bowel atresias" is_a: HP:0011100 ! Intestinal atresia property_value: HP:0040005 "The presence of multiple areas of `atresia` (PATO:0001819) affecting the `small intestine` (FMA:7200)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004798 name: Recurrent infection of the gastrointestinal tract def: "Recurrent infection of the gastrointestinal tract." [HPO:probinson] synonym: "Gastrointestinal infections" RELATED [] synonym: "GASTROINTESTINAL INFECTIONS, RECURRENT" RELATED [HPO:skoehler] synonym: "Recurrent gastrointestinal infections" EXACT [] xref: UMLS:C1264613 "Gastrointestinal infections" is_a: HP:0002719 ! Recurrent infections is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract property_value: HP:0040005 "`Recurrent` (PATO:0000427) infection of the `gastrointestinal tract` (FMA:71132)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004799 name: Jejunoileal diverticula is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004800 name: Duodenal diverticula xref: UMLS:C0341266 "DUODENAL DIVERTICULA" is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004802 name: Episodic hemolytic anemia def: "A form of hemolytic anemia that occurs in repeated episodes." [HPO:probinson] synonym: "Episodic hemolysis" EXACT [] xref: UMLS:C1859495 "Episodic hemolysis" is_a: HP:0001878 ! Hemolytic anemia property_value: HP:0040005 "A form of `hemolytic anemia` (HP:0001878) that occurs in repeated episodes." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004804 name: Congenital hemolytic anemia alt_id: HP:0004811 alt_id: HP:0004824 def: "A form of hemolytic anemia with congenital onset." [HPO:probinson] synonym: "Congenital haemolytic anemia" EXACT [] synonym: "Neonatal hemolytic anemia" RELATED [] xref: MeSH:D000745 "Anemia, Hemolytic, Congenital" is_a: HP:0001878 ! Hemolytic anemia property_value: HP:0040005 "A form of `hemolytic anemia` (HP:0001878) with congenital onset." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004808 name: Acute myeloid leukemia alt_id: HP:0001914 alt_id: HP:0004843 alt_id: HP:0005516 alt_id: HP:0006724 alt_id: HP:0006728 def: "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:probinson] synonym: "Acute myeloblastic leukemia" EXACT [] synonym: "Acute myelocytic leukemia" EXACT [] synonym: "Acute myelogenous leukemia" EXACT [] xref: MeSH:D015470 "Leukemia, Myeloid, Acute" xref: UMLS:C0023467 "Acute myelogenous leukaemia" is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004809 name: Neonatal alloimmune thrombocytopenia def: "Low platelet count associated with maternal platelet-specific alloantibodies." [HPO:probinson] comment: Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies. xref: UMLS:C0473780 "Neonatal alloimmune thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004810 name: Congenital hypoplastic anemia alt_id: HP:0005545 def: "A type of hypoplastic anemia with congenital onset." [HPO:probinson] comment: In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature. synonym: "Congenital dyserythropoietic anemia" EXACT [] xref: MeSH:D029502 "Anemia, Hypoplastic, Congenital" is_a: HP:0001908 ! Hypoplastic anemia property_value: HP:0040005 "A type of `hypoplastic anemia` (HP:0001908) with congenital onset." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004812 name: Pre-B-cell acute lymphoblastic leukemia xref: MeSH:D015452 "Precursor B-Cell Lymphoblastic Leukemia-Lymphoma" is_a: HP:0006721 ! Acute lymphatic leukemia [Term] id: HP:0004813 name: Post-transfusion thrombocytopenia def: "Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages." [DDD:kfreeson] comment: Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy. synonym: "Post-transfusion purpura" RELATED [] xref: UMLS:C1868252 "Post-transfusion thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004814 name: Fava bean-induced hemolytic anemia def: "A kind of hemolytic anemia that is induced by the ingestion of fava beans." [HPO:probinson] comment: Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations. synonym: "Hemolytic anemia following ingestion of fava beans" EXACT [] is_a: HP:0001878 ! Hemolytic anemia property_value: HP:0040005 "A kind of `hemolytic anemia` (HP:0001878) that is induced by the ingestion of fava beans." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004817 name: Drug-sensitive hemolytic anemia def: "A form of hemolytic anemia that is triggered by ingestion of certain drugs." [HPO:probinson] is_a: HP:0001878 ! Hemolytic anemia property_value: HP:0040005 "A form of `hemolytic anemia` (HP:0001878) that is triggered by ingestion of certain drugs." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004818 name: Paroxysmal nocturnal hemoglobinuria xref: UMLS:C0024790 "Paroxysmal nocturnal haemoglobinuria" is_a: HP:0003641 ! Hemoglobinuria [Term] id: HP:0004819 name: Normocytic hypoplastic anemia def: "A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)." [HPO:probinson] xref: UMLS:C1835875 "Normocytic hypoplastic anemia" is_a: HP:0001908 ! Hypoplastic anemia property_value: HP:0040005 "A type of `hypoplastic anemia` (HP:0001908) in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004820 name: Acute myelomonocytic leukemia def: "A pediatric acute myeloid leukemia involving both myeloid and monocytoid precursors. At least 20% of non-erythroid cells are of monocytic origin." [HPO:probinson, MeSH:D015479] xref: MeSH:D015479 "Leukemia, Myelomonocytic, Acute" xref: UMLS:C0023479 "Acute myelomonocytic leukaemia" is_a: HP:0002488 ! Acute leukemia is_a: HP:0012324 ! Myeloid leukemia [Term] id: HP:0004821 name: Hypersegmentation of neutrophil nuclei def: "An excessive division of the lobes of the nucleus of a neutrophil." [HPO:probinson] comment: Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies. is_a: HP:0011992 ! Abnormality of neutrophil morphology property_value: HP:0040005 "An excessive division of the lobes of the nucleus of a `neutrophil` (CL:0000775)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004822 name: Atypical elliptocytosis xref: UMLS:C1857010 "ELLIPTOCYTOSIS, ATYPICAL" is_a: HP:0004445 ! Elliptocytosis [Term] id: HP:0004823 name: Anisopoikilocytosis def: "A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes." [HPO:probinson] is_a: HP:0004447 ! Poikilocytosis property_value: HP:0040005 "A type of `poikilocytosis` (HP:0004447) characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004825 name: Increased hemoglobin oxygen affinity def: "An abnormal increase in the binding affinity of hemoglobin for oxygen." [HPO:probinson] synonym: "Increased haemoglobin oxygen affinity" EXACT [] is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0004826 name: Folate-unresponsive megaloblastic anemia def: "A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia." [HPO:probinson] is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004828 name: Refractory anemia with ringed sideroblasts def: "A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts." [HPO:probinson] synonym: "Myelodysplasia with sideroblastosis" EXACT [] xref: ICD-O:M9982/3 "Refractory anemia with ringed sideroblasts" is_a: HP:0012150 ! Single lineage myelodysplasia [Term] id: HP:0004831 name: Recurrent thromboembolism def: "Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream." [HPO:probinson] synonym: "Recurrent thromboembolic disease" RELATED [] is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0004835 name: Microspherocytosis def: "The presence of erythrocytes that are sphere-shaped and reduced in size." [HPO:probinson] is_a: HP:0004444 ! Spherocytosis [Term] id: HP:0004836 name: Acute promyelocytic leukemia def: "A type of acute myeloid leukemia in which abnormal promyelocytes predominate." [HPO:probinson] xref: MeSH:D015473 "Leukemia, Promyelocytic, Acute" xref: UMLS:C0023487 "Acute Promyelocytic Leukemia" is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004839 name: Pyropoikilocytosis alt_id: HP:0004805 def: "A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn." [HPO:probinson, pmid:16304353] synonym: "hereditary pyropoikilocytosis" EXACT [] xref: UMLS:C0520739 "Hereditary pyropoikilocytosis" is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004840 name: Hypochromic microcytic anemia alt_id: HP:0004842 def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [HPO:probinson] synonym: "Hypochromic, microcytic anemia" EXACT [] is_a: HP:0001931 ! Hypochromic anemia is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004841 name: Reduced factor XII activity alt_id: HP:0005514 alt_id: HP:0005551 alt_id: HP:0008286 def: "Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade." [HPO:probinson] synonym: "Factor XII deficiency" EXACT [] synonym: "Hageman factor deficiency" EXACT [] xref: MeSH:D005175 "Factor XII Deficiency" xref: UMLS:C0015526 "Factor XII Deficiency" is_a: HP:0010989 ! Abnormality of the intrinsic pathway property_value: HP:0040005 "Decreased activity of `coagulation factor XII` (PR:000007296). Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004844 name: Coombs-positive hemolytic anemia alt_id: HP:0003539 def: "A type of hemolytic anemia in which the Coombs test is positive." [HPO:probinson] comment: The Coombs test measures a coating of immunoglobulin or complement on the red cell surface. synonym: "Direct Coombs positive" EXACT [] xref: UMLS:C1858979 "Direct Coombs positive" is_a: HP:0001878 ! Hemolytic anemia property_value: HP:0040005 "A type of `hemolytic anemia` (HP:0001878) in which the Coombs test is positive." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004845 name: Acute monocytic leukemia alt_id: HP:0004833 synonym: "Acute monoblastic leukemia" EXACT [] xref: MeSH:D007948 "Leukemia, Monocytic, Acute" xref: UMLS:C1318544 "Acute monocytic leukemia" is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004846 name: Prolonged bleeding after surgery def: "Bleeding that persists longer than the normal time following a surgical procedure." [HPO:probinson] synonym: "Excessive bleeding during surgery" EXACT [] synonym: "Protracted bleeding after surgery" EXACT [] is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0004848 name: Ph-positive acute lymphoblastic leukemia xref: UMLS:C1835422 "Ph-positive acute lymphoblastic leukemia" is_a: HP:0006721 ! Acute lymphatic leukemia [Term] id: HP:0004850 name: Recurrent deep vein thrombosis def: "Repeated episodes of the formation of a blot clot in a deep vein." [HPO:probinson] synonym: "Recurrent venous thrombosis" EXACT [] xref: UMLS:C1867639 "Recurrent venous thrombosis" is_a: HP:0002625 ! Deep venous thrombosis [Term] id: HP:0004851 name: Folate-responsive megaloblastic anemia def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate." [HPO:probinson] is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004852 name: Reduced leukocyte alkaline phosphatase def: "A decreased alkaline phosphatase activity measured within leukocytes." [HPO:probinson] synonym: "Low leukocyte alkaline phosphatase" EXACT [] xref: UMLS:C1850780 "Low leukocyte alkaline phosphatase" is_a: HP:0003282 ! Low alkaline phosphatase [Term] id: HP:0004854 name: Intermittent thrombocytopenia def: "Reduced platelet count that occurs sporadically, i.e., it comes and goes." [HPO:probinson, pmid:8384898] xref: UMLS:C1839167 "Intermittent thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004855 name: Reduced protein S activity def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C." [HPO:probinson] comment: Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis. synonym: "Protein S deficiency" NARROW [] xref: MeSH:D018455 "Protein S deficiency" xref: UMLS:C0242666 "Protein S Deficiency" is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: HP:0040005 "An `abnormality of coagulation` (HP:0001928) related to a `decreased concentration` (PATO:0001163) of `vitamin K-dependent protein S` (PR:000013269). Protein S is a cofactor of protein C." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004856 name: Normochromic microcytic anemia def: "A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes." [HPO:probinson] is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004857 name: Hyperchromic macrocytic anemia def: "A type of anemia cahracterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin." [HPO:probinson] is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004859 name: Amegakaryocytic thrombocytopenia def: "Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes." [HPO:probinson] xref: UMLS:C0398639 "Amegakaryocytic thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004860 name: Thiamine-responsive megaloblastic anemia def: "A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine." [HPO:probinson] is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004861 name: refractory macrocytic anemia is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004863 name: Compensated hemolytic anemia is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004864 name: Refractory sideroblastic anemia def: "A type of sideroblastic anemia that is not responsive to treatment." [HPO:probinson] xref: UMLS:C0002896 "Refractory sideroblastic anaemia, NOS" is_a: HP:0001924 ! Sideroblastic anemia property_value: HP:0040005 "A type of `sideroblastic anemia` (HP:0001924) that is not responsive to treatment." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004866 name: Impaired ADP-induced platelet aggregation def: "Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP." [HPO:probinson, pmid:11413156] is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0004870 name: Chronic hemolytic anemia alt_id: HP:0004815 def: "An chronic form of hemolytic anemia." [HPO:probinson] synonym: "hemolytic anemia, chronic" EXACT [] xref: UMLS:C1387532 "Chronic hemolytic anemia" is_a: HP:0001878 ! Hemolytic anemia property_value: HP:0040005 "An chronic form of `hemolytic anemia` (HP:0001878)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004871 name: Perineal fistula def: "The presence of a fistula between the bowel and the perineum." [HPO:probinson] comment: The perineum is the diamond-shaped region of the body between the pubic arch and the anus. xref: UMLS:C0561921 "Perineal fistula" is_a: HP:0100589 ! Urogenital fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) between the `bowel` (FMA:7199) and the `perineum` (FMA:9579)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004872 name: Incisional hernia def: "An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound." [HPO:probinson] synonym: "Recurrent abdominal hernia" EXACT [] is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0004875 name: Neonatal inspiratory stridor is_a: HP:0002643 ! Neonatal respiratory distress is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004876 name: Spontaneous neonatal pneumothorax def: "Pneumothorax occurring neonatally without traumatic injury to the chest or lung." [HPO:probinson] synonym: "Neonatal pneumothorax" EXACT [] xref: UMLS:C1857021 "Neonatal pneumothorax" is_a: HP:0002108 ! Spontaneous pneumothorax [Term] id: HP:0004878 name: Intercostal muscle weakness def: "Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall." [HPO:probinson] is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0001324 ! Muscle weakness is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004879 name: intermittent hyperventilation def: "Episodic hyperventilation." [HPO:probinson] xref: UMLS:C1828017 "Intermittent hyperventilation" is_a: HP:0002883 ! Hyperventilation [Term] id: HP:0004880 name: Respiratory infections in early life is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004881 name: Episodic hypoventilation is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004885 name: Episodic respiratory distress synonym: "respiratory distress, episodic" EXACT [] is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0004886 name: Congenital laryngeal stridor xref: UMLS:C0265763 "Congenital laryngeal stridor" is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004887 name: Respiratory failure requiring assisted ventilation alt_id: HP:0004883 xref: UMLS:C1832091 "Respiratory failure requiring assisted ventilation" is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004889 name: Intermittent episodes of respiratory insufficiency due to muscle weakness is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004890 name: Elevated pulmonary artery pressure alt_id: HP:0004958 def: "An abnormally elevated blood pressure in the circulation of the pulmonary artery." [HPO:probinson] synonym: "increased pulmonary artery pressure" EXACT [] is_a: HP:0004414 ! Abnormality of the pulmonary artery property_value: HP:0040005 "An abnormally elevated blood pressure in the circulation of the `pulmonary artery` (FMA:66326)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004891 name: Recurrent infections due to aspiration is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004894 name: Laryngotracheal stenosis xref: UMLS:C1857270 "Laryngotracheal stenosis" is_a: HP:0001602 ! Laryngeal stenosis is_a: HP:0002777 ! Tracheal stenosis [Term] id: HP:0004897 name: Stress/infection-induced lactic acidosis def: "A form of lactic acidemia that occurs in relation to stress or infection." [HPO:probinson] is_a: HP:0003128 ! Lactic acidosis property_value: HP:0040005 "A form of `lactic acidemia` (HP:0003128) that occurs in relation to stress or infection." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004898 name: Persistent lactic acidosis def: "A continuous form of lactic acidemia." [HPO:probinson] is_a: HP:0003128 ! Lactic acidosis property_value: HP:0040005 "A `continuous` (PATO:0000689) form of `lactic acidemia` (HP:0003128)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004900 name: Severe lactic acidosis def: "A severe form of lactic acidemia." [HPO:probinson] is_a: HP:0003128 ! Lactic acidosis property_value: HP:0040005 "A `severe` (PATO:0000396) form of `lactic acidemia` (HP:0003128)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004901 name: Exercise-induced lactic acidemia def: "A form of lactic acidemia that occurs following exercise or exertion." [HPO:probinson, pmid:15308499] is_a: HP:0003128 ! Lactic acidosis property_value: HP:0040005 "A form of `lactic acidemia` (HP:0003128) that occurs following exercise or exertion." xsd:string {xref="HPO:probinson", xref="pmid:15308499"} [Term] id: HP:0004902 name: Congenital lactic acidosis def: "A form of lactic acidemia with congenital onset." [HPO:probinson] is_a: HP:0003128 ! Lactic acidosis property_value: HP:0040005 "A form of `lactic acidemia` (HP:0003128) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004904 name: Maturity-onset diabetes of the young def: "The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells." [HPO:probinson] synonym: "Maturity onset diabetes of the young" EXACT [] synonym: "MODY" RELATED [] is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0004905 name: Vitamin A deficiency xref: MeSH:D014802 "Vitamin A Deficiency" xref: UMLS:C0042842 "Vitamin A Deficiency" is_a: HP:0008372 ! Abnormality of vitamin A metabolism [Term] id: HP:0004906 name: hypernatremic dehydration xref: UMLS:C1850544 "Hypernatremic dehydration" is_a: HP:0001986 ! Hypertonic dehydration [Term] id: HP:0004909 name: hypokalemic hypochloremic metabolic alkalosis xref: UMLS:C0740896 "Hypokalemic hypochloremic metabolic alkalosis" is_a: HP:0001960 ! Hypokalemic metabolic alkalosis [Term] id: HP:0004910 name: Bicarbonate-wasting renal tubular acidosis synonym: "Renal bicarbonate wasting" EXACT [] xref: UMLS:C1858626 "Renal bicarbonate wasting" is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0004911 name: Episodic metabolic acidosis alt_id: HP:0005963 def: "Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids." [HPO:probinson] synonym: "Recurrent episodes of acidosis" EXACT [] is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004912 name: Hypophosphatemic rickets xref: MeSH:D053098 "Hypophosphatemic Rickets" xref: UMLS:C1704375 "Hypophosphataemic rickets" is_a: HP:0002148 ! Hypophosphatemia is_a: HP:0002748 ! Rickets [Term] id: HP:0004913 name: Intermittent lactic acidemia def: "An intermittent (discontinuous) form of lactic acidemia." [HPO:probinson] xref: UMLS:C1844917 "Intermittent lactic acidemia" is_a: HP:0003128 ! Lactic acidosis property_value: HP:0040005 "An `intermittent (discontinuous)` (PATO:0000690) form of `lactic acidemia` (HP:0003128)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004914 name: Recurrent infantile hypoglycemia alt_id: HP:0004917 def: "Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period." [HPO:probinson] synonym: "Episodic infantile hypoglycemia" EXACT [] is_a: HP:0001988 ! Recurrent hypoglycemia property_value: HP:0040005 "`Recurrent` (PATO:0000427) episodes of `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) occurring during the infantile period." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004915 name: Impairment of galactose metabolism def: "An impairment of galactose metabolism." [HPO:probinson] synonym: "Impaired galactose metabolism" EXACT [HPO:skoehler] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "An impairment of `galactose metabolism` (GO:0006012)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004916 name: Generalized distal tubular acidosis is_a: HP:0008341 ! Distal renal tubular acidosis [Term] id: HP:0004918 name: hyperchloremic metabolic acidosis xref: UMLS:C1969073 "Hyperchloremic metabolic acidosis" is_a: HP:0001995 ! Hyperchloremic acidosis [Term] id: HP:0004919 name: Galactose intolerance xref: UMLS:C0016952 "Galactose intolerance" is_a: HP:0004915 ! Impairment of galactose metabolism [Term] id: HP:0004920 name: Phenylpyruvic acidemia xref: UMLS:C1849926 "Phenylpyruvic acidemia" is_a: HP:0001941 ! Acidosis [Term] id: HP:0004921 name: Abnormality of magnesium homeostasis alt_id: HP:0008274 def: "An abnormality of magnesium ion homeostasis." [HPO:probinson] synonym: "Abnormal magnesium metabolism" RELATED [] is_a: HP:0010927 ! Abnormality of divalent inorganic cation homeostasis property_value: HP:0040005 "An abnormality of `magnesium ion homeostasis` (GO:0010960)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004922 name: Atypical hyperphenylalaninemia is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0004923 name: Hyperphenylalaninemia def: "An increased concentration of L-phenylalanine in the blood." [HPO:probinson] xref: UMLS:C0751435 "Hyperphenylalaninaemia" is_a: HP:0010893 ! Abnormality of phenylalanine metabolism property_value: HP:0040005 "An increased concentration of `L-phenylalanine` (CHEBI:17295) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004924 name: Abnormal oral glucose tolerance def: "A type of Abnormal glucose tolerance observed following administration of an oral bolus of glucose." [HPO:probinson] synonym: "Abnormal glucose oral tolerance test" EXACT [] xref: UMLS:C1847425 "Abnormal glucose oral tolerance test" is_a: HP:0001952 ! Abnormal glucose tolerance property_value: HP:0040005 "A type of `Abnormal glucose tolerance` (HP:0001952) observed following administration of an oral bolus of glucose." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004925 name: Chronic lactic acidosis alt_id: HP:0004899 def: "A chronic form of lactic acidemia." [HPO:probinson] is_a: HP:0003128 ! Lactic acidosis is_a: HP:0012468 ! Chronic acidosis property_value: HP:0040005 "A `chronic` (PATO:0001863) form of `lactic acidemia` (HP:0003128)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004926 name: Orthostatic hypotension due to autonomic dysfunction is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0004927 name: Pulmonary artery dilatation def: "An abnormal widening of the diameter of the pulmonary artery." [HPO:probinson] xref: UMLS:C0428851 "Pulmonary artery dilatation" is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004928 name: Peripheral arterial stenosis is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0004929 name: Coronary atherosclerosis def: "Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction." [HPO:curators] synonym: "Coronary artherosclerosis" EXACT [] xref: UMLS:C0010054 "Coronary Atherosclerosis" is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0004930 name: Abnormality of the pulmonary vasculature is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0002597 ! Abnormality of the vasculature created_by: peter creation_date: 2008-03-26T04:07:00Z [Term] id: HP:0004931 name: Arteriosclerosis of small cerebral arteries def: "Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain." [HPO:probinson] is_a: HP:0002634 ! Arteriosclerosis is_a: HP:0009145 ! Abnormality of cerebral artery [Term] id: HP:0004933 name: Ascending aortic dissection def: "A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] is_a: HP:0002647 ! Aortic dissection property_value: HP:0040005 "A separation of the layers within the wall of the `ascending aorta` (FMA:3736). Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004934 name: Vascular calcification def: "Abnormal calcification of the vasculature." [HPO:probinson] xref: MeSH:D061205 "Vascular Calcification" xref: UMLS:C0342649 "Vascular calcifications" is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011915 ! Cardiovascular calcification property_value: HP:0040005 "Abnormal calcification of the `vasculature` (FMA:69050)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004935 name: Pulmonary artery atresia def: "A congenital anomaly with e narrowing or complete absence of the opening between the right ventricle and the pulmonary artery." [HPO:probinson] comment: Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. synonym: "Pulmonary atresia" EXACT [] xref: MeSH:D018633 "pulmonary atresia" xref: UMLS:C0265908 "Pulmonary artery atresia" is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004936 name: Venous thrombosis def: "Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow." [HPO:probinson] xref: MeSH:D020246 "Venous thrombosis" xref: UMLS:C0517555 "Venous thrombosis" is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0004937 name: Pulmonary artery aneurysm def: "An aneurysm (localized balloon-like outward bulging) in the pulmonary artery." [HPO:probinson] xref: UMLS:C0155676 "Pulmonary artery aneurysm" is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004938 name: Tortuous cerebral arteries def: "Excessive bending, twisting, and winding of a cerebral artery." [HPO:probinson] xref: UMLS:C1836791 "Tortuous cerebral arteries" is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0009145 ! Abnormality of cerebral artery [Term] id: HP:0004940 name: Generalized arterial calcification alt_id: HP:0004967 def: "Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body." [HPO:probinson] is_a: HP:0003207 ! Arterial calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004941 name: Extrahepatic portal hypertension def: "Increased pressure in the pre-hepatic portal vein." [HPO:probinson] comment: Hypertension in the portal venous tree proper. is_a: HP:0001409 ! Portal hypertension property_value: HP:0040005 "`Increased pressure` (PATO:0001576) in the `pre-hepatic portal vein` (FMA:71904)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004942 name: Aortic aneurysm xref: MeSH:D001014 "Aortic Aneurysm" xref: UMLS:C0003486 "Aortic aneurysms" is_a: HP:0001724 ! Aortic dilatation is_a: HP:0002617 ! Aneurysm [Term] id: HP:0004943 name: Accelerated atherosclerosis xref: UMLS:C1849618 "Accelerated atherosclerosis" is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0004944 name: Cerebral aneurysm alt_id: HP:0002618 alt_id: HP:0006816 def: "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:probinson] synonym: "Cerebral artery aneurysm" EXACT [] synonym: "Intracranial aneurysm" EXACT [] xref: MeSH:D002532 "Intracranial Aneurysm" xref: UMLS:C0917996 "Cerebral Aneurysm" is_a: HP:0002617 ! Aneurysm is_a: HP:0009145 ! Abnormality of cerebral artery [Term] id: HP:0004945 name: Extracranial internal carotid artery dissection def: "A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall." [HPO:probinson] is_a: HP:0005294 ! Arterial dissection is_a: HP:0012159 ! Internal carotid artery dissection property_value: HP:0040005 "A separation (dissection) of the layers of the extracranial portion of the `internal carotid artery` (FMA:3947) wall." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004947 name: Arteriovenous fistula alt_id: HP:0004946 synonym: "Arteriovenous fistulas" EXACT [] xref: MeSH:D001164 "Arteriovenous fistula" xref: UMLS:C0003855 "Arteriovenous Fistulas" is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0004948 name: Vascular tortuosity is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0004950 name: Peripheral arterial disease alt_id: HP:0004973 synonym: "Peripheral vascular-disease" EXACT [] xref: MeSH:D058729 "Peripheral Arterial Disease" xref: UMLS:C1704436 "Peripheral arterial disease" is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0004952 name: Pulmonary arteriovenous fistulas xref: UMLS:C0155675 "PULMONARY ARTERIOVENOUS FISTULAS" is_a: HP:0004947 ! Arteriovenous fistula [Term] id: HP:0004953 name: Abdominal aortic aneurysm xref: UMLS:C0162871 "Aortic Aneurysm, Abdominal" is_a: HP:0004942 ! Aortic aneurysm is_a: HP:0005112 ! Dilatation of the abdominal aorta [Term] id: HP:0004954 name: Descending aortic aneurysm def: "A bulging, weakened area in the wall of the descending thoracic aorta." [HPO:probinson] synonym: "Descending thoracic aortic aneurysm" EXACT [] is_a: HP:0004959 ! Dilatation of the descending thoracic aorta is_a: HP:0012727 ! Thoracic aortic aneurysm [Term] id: HP:0004955 name: Generalized arterial tortuosity def: "Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries." [HPO:probinson] synonym: "ARTERIAL TORTUOSITY, GENERAL" RELATED [HPO:skoehler] synonym: "ARTERIAL TORTUOSITY, GENERALIZED" RELATED [HPO:skoehler] is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0004959 name: Dilatation of the descending thoracic aorta is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:32:00Z [Term] id: HP:0004960 name: Absent pulmonary artery def: "A congenital defect with aplasia (absence) of one of the right or left pulmonary artery." [HPO:probinson, pmid:17192541] comment: This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP. xref: UMLS:C0265905 "Absent pulmonary artery" is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004961 name: Pulmonary artery sling def: "An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum." [DDD:dbrown, pmid:16549603, pmid:18458183] xref: UMLS:C1856123 "Pulmonary artery sling" is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004962 name: Thoracic aorta calcification def: "Calcification, that is, pathological deposition of calcium salts in the thoracic aorta." [HPO:probinson] xref: UMLS:C1969292 "Thoracic aorta calcification" is_a: HP:0004963 ! Calcification of the aorta property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts in the `thoracic aorta` (FMA:3786)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004963 name: Calcification of the aorta def: "Calcification, that is, pathological deposition of calcium salts in the aorta." [HPO:probinson] comment: Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself. is_a: HP:0001679 ! Abnormality of the aorta is_a: HP:0003207 ! Arterial calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts in the `aorta` (FMA:3734)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004964 name: Pulmonary arterial medial hypertrophy alt_id: HP:0004939 def: "Increase in mass of the tunica media of the arteries in the pulmonary circulation." [HPO:probinson] synonym: "Hypertrophy of the pulmonary artery wall" EXACT [] is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004966 name: Medial calcification of large arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries." [HPO:probinson] is_a: HP:0012455 ! Large artery calcification is_a: HP:0012456 ! Medial arterial calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004968 name: Recurrent cerebral hemorrhage def: "Recurrent bleeding into the parenchyma of the brain." [DDD:dbrown] is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0004969 name: Peripheral pulmonary artery stenosis alt_id: HP:0004957 def: "Stenosis of a peripheral branch of the pulmonary artery." [HPO:probinson] synonym: "peripheral pulmonary stenosis" EXACT [] synonym: "Peripheral pulmonic stenosis" EXACT [] xref: UMLS:C0345030 "Peripheral pulmonary artery stenosis" xref: UMLS:C1855624 "Peripheral pulmonary stenosis" is_a: HP:0004415 ! Pulmonary artery stenosis [Term] id: HP:0004970 name: Ascending aortic dilation is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0004971 name: Pulmonary artery hypoplasia def: "Underdevelopment of the pulmonary artery." [HPO:probinson] xref: UMLS:C0265910 "Pulmonary artery hypoplasia" is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004972 name: Elevated mean arterial pressure xref: UMLS:C1840376 "Elevated mean arterial pressure" is_a: HP:0000822 ! Hypertension [Term] id: HP:0004974 name: Coarctation of abdominal aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta." [HPO:probinson] is_a: HP:0001680 ! Coarctation of aorta [Term] id: HP:0004975 name: Erlenmeyer flask deformity of the femurs alt_id: HP:0006422 def: "Flaring of distal femur." [HPO:probinson] synonym: "Erlenmeyer flask deformity of distal femur" EXACT [] synonym: "Erlenmeyer flask femora" EXACT [] xref: UMLS:C1855895 "Erlenmeyer flask femora" is_a: HP:0002823 ! Abnormality of the femur property_value: HP:0040005 "Flaring of distal `femur` (FMA:9611)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004976 name: Knee dislocation alt_id: HP:0006469 synonym: "Dislocations of the knees" EXACT [] synonym: "Knee dislocations" EXACT [] xref: MeSH:D031221 "Knee Dislocation" is_a: HP:0001373 ! Joint dislocation is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0004977 name: Bilateral radial aplasia alt_id: HP:0005870 def: "Missing radius bone on both sides associated with congenital failure of development." [HPO:probinson] synonym: "Bilateral absence of radius" EXACT [] is_a: HP:0003974 ! Absent radius [Term] id: HP:0004979 name: Metaphyseal sclerosis def: "Abnormally increased density of metaphyseal bone." [HPO:probinson] synonym: "Sclerotic metaphyses" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0004980 name: Metaphyseal rarefaction def: "Reduction in density of metaphyseal bony tissue." [HPO:probinson] synonym: "Rarefaction of the metaphyses" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0004981 name: Prominent styloid process of ulna xref: UMLS:C1848110 "Prominent ulnar styloid process" is_a: HP:0004035 ! Abnormality of the styloid process of ulna [Term] id: HP:0004986 name: obsolete Rudimentary to absent fibulae def: "Absent or nearly absent fibula." [HPO:curators] comment: This is a legacy term that actually states the same as "Rudimentary fibula" synonym: "Small to absent fibula" EXACT [] is_obsolete: true replaced_by: HP:0006381 [Term] id: HP:0004987 name: Mesomelic leg shortening def: "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken] synonym: "Mesomelia of the lower limbs" EXACT [] synonym: "Mesomelic lower limb shortening" EXACT [] is_a: HP:0003027 ! Mesomelia [Term] id: HP:0004990 name: Epiphyseal streaking xref: UMLS:C1858039 "Epiphyseal streaking" is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0004991 name: Rhizomelic arm shortening def: "Disproportionate shortening of the proximal segment of the arm (i.e. the humerus)." [HPO:probinson] xref: UMLS:C1969532 "Rhizomelic arm shortening" is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0004993 name: Slender long bones with narrow diaphyses def: "Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones." [HPO:probinson] is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0003100 ! Slender long bone property_value: HP:0040005 "Reduced diameter of a `long bone` (FMA:7474) with a more pronounced reduction of the diameter of the diaphysis of the long bones." xsd:string {xref="HPO:probinson"} [Term] id: HP:0004997 name: Multicentric ossification of proximal humeral epiphyses is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses [Term] id: HP:0005001 name: Recurrent patellar dislocation def: "Patellar dislocation occuring repeated times." [HPO:curators] synonym: "Recurrent dislocation of patellas" EXACT [] xref: UMLS:C1857621 "Recurrent patellar dislocation" is_a: HP:0002999 ! Patellar dislocation [Term] id: HP:0005003 name: Aplasia/Hypoplasia of the capital femoral epiphysis def: "Absence or underdevelopment of the proximal epiphysis of the femur." [HPO:probinson] is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010577 ! Absent epiphyses property_value: HP:0040005 "Absence or underdevelopment of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005004 name: Flattened proximal radial epiphyses def: "An abnormally flat form of the proximal epiphysis of the radius." [HPO:curators] xref: UMLS:C1849065 "Flattened proximal radial epiphyses" is_a: HP:0004002 ! Flattened radial epiphyses is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005005 name: Femoral bowing present at birth, straightening with time def: "Congenital onset bending or abnormal curvature of the femur that normalizes with age." [HPO:probinson] comment: This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement. is_a: HP:0002980 ! Femoral bowing property_value: HP:0040005 "Congenital onset bending or abnormal curvature of the `femur` (FMA:9611) that normalizes with age." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005008 name: Large joint dislocations is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0005009 name: Dumbbell-shaped humerus def: "The humerus is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] is_a: HP:0000947 ! Dumbbell-shaped long bone property_value: HP:0040005 "The `humerus` (FMA:13303) is shortened and displays flaring (widening) of the metaphyses." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005010 name: osteomyelitis leading to amputation due to slow healing fractures is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005011 name: Mesomelic arm shortening alt_id: HP:0005024 alt_id: HP:0006455 def: "Shortening of the middle parts of the arm in relation to the upper and terminal segments." [HPO:sdoelken] synonym: "Mesomelia of the upper limbs" EXACT [] synonym: "Upper limb brachymesomelia" EXACT [] xref: UMLS:C1862087 "Upper limb brachymesomelia" is_a: HP:0003027 ! Mesomelia [Term] id: HP:0005013 name: Dysplastic distal radial epiphyses def: "Abnormally developed (dysplastic) distal epiphysis of the radius." [HPO:curators] xref: UMLS:C1862131 "Dysplastic distal radial epiphyses" is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005017 name: Polyarticular chondrocalcinosis is_a: HP:0000934 ! Chondrocalcinosis [Term] id: HP:0005019 name: Diaphyseal thickening xref: UMLS:C1835473 "Diaphyseal thickening" is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0005021 name: Bilateral elbow dislocations xref: UMLS:C1855541 "Bilateral elbow dislocations" is_a: HP:0003042 ! Elbow dislocation [Term] id: HP:0005025 name: Hypoplastic distal humeri def: "Underdevelopment of the distal portion of the humerus." [HPO:probinson] xref: UMLS:C1968607 "Hypoplastic distal humeri" is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0005026 name: mesomelic/rhizomelic limb shortening is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0005028 name: Widened proximal tibial metaphyses xref: UMLS:C1836187 "Widened proximal tibial metaphyses" is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0005033 name: Distal ulnar hypoplasia alt_id: HP:0006474 def: "Underdevelopment of the distal portion of the ulna." [HPO:probinson] synonym: "Distal shortening of ulna" EXACT [] synonym: "Hypoplastic distal ulna" EXACT [] xref: UMLS:C1970818 "Hypoplastic distal ulna" is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005035 name: Shortening of all phalanges of the toes def: "Developmental hypoplasia (shortening) of all phalanges of the foot." [HPO:probinson] is_a: HP:0001831 ! Short toe is_a: HP:0010161 ! Abnormality of the phalanges of the toes [Term] id: HP:0005036 name: Unilateral ulnar hypoplasia def: "Underdevelopment of the ulna on only one side." [HPO:probinson] xref: UMLS:C1837832 "Unilateral ulnar hypoplasia" is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005037 name: Proximal radio-ulnar synostosis def: "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [HPO:curators] xref: UMLS:C0431795 "Proximal radioulnar synostosis" is_a: HP:0002974 ! Radioulnar synostosis [Term] id: HP:0005039 name: Multiple long-bone exostoses def: "Multiple exostoses originating in long bones." [HPO:probinson] synonym: "Multiple exostoses of long tubular bones" EXACT [] is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005041 name: Irregular capital femoral epiphysis alt_id: HP:0008806 def: "Irregular surface of the normally relatively smooth capital femoral epiphysis." [HPO:probinson] synonym: "Irregular capital femoral epiphyses" RELATED [] synonym: "Irregular proximal femoral epiphyses" EXACT [] is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0005042 name: Irregular, rachitic-like metaphyses is_a: HP:0003025 ! Metaphyseal irregularity [Term] id: HP:0005043 name: irregular proximal humeral metaphyses xref: UMLS:C1865128 "Irregular proximal humeral metaphyses" is_a: HP:0003913 ! Irregular humeral metaphyses [Term] id: HP:0005045 name: Diaphyseal cortical sclerosis def: "An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] xref: UMLS:C1833739 "Diaphyseal cortical sclerosis" is_a: HP:0003034 ! Diaphyseal sclerosis [Term] id: HP:0005048 name: Synostosis of carpal bones synonym: "Fusion of carpal bones" EXACT [] is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0005050 name: Anterolateral radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction." [HPO:probinson] synonym: "Anterior/lateral radial head dislocation" EXACT [] is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005054 name: Metaphyseal spurs alt_id: HP:0005088 def: "Bony outgrowths that extend laterally from the margin of the metaphysis." [HPO:probinson] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005059 name: arthralgia/arthritis is_a: HP:0002829 ! Arthralgia [Term] id: HP:0005060 name: limited elbow flexion/extension is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005063 name: Fragmented, irregular epiphyses is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0005066 name: Cone-shaped epiphyses fused within their metaphyses is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0005067 name: Proximal fibular overgrowth def: "Overgrowth of the proximal part of the fibula." [HPO:curators] is_a: HP:0003099 ! Fibular overgrowth [Term] id: HP:0005068 name: Absent styloid process of ulna xref: UMLS:C1849004 "Absent styloid processes" is_a: HP:0004035 ! Abnormality of the styloid process of ulna [Term] id: HP:0005069 name: rhizo-meso-acromelic limb shortening xref: UMLS:C1849181 "Limb shortening" is_a: HP:0008905 ! Rhizomelia [Term] id: HP:0005070 name: Proximal radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction." [HPO:probinson] xref: UMLS:C1865570 "Proximal radial head dislocation" is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005072 name: Hyperextensibility at wrists def: "The ability of the wrist joints to move beyond their normal range of motion." [HPO:curators] synonym: "Increased laxity of wrists" EXACT [] is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005084 name: Anterior radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction." [HPO:probinson] synonym: "Anterior dislocation of radial head" EXACT [] is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005085 name: limited knee flexion/extension def: "A limited ability of the knee joint extension and flexion." [HPO:curators] is_a: HP:0003066 ! Limited knee extension [Term] id: HP:0005086 name: Knee osteoarthritis xref: MeSH:D020370 "Osteoarthritis, Knee" xref: UMLS:C0409959 "Osteoarthritis, Knee" is_a: HP:0002758 ! Osteoarthritis is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0005089 name: Abnormal metaphyseal trabeculation alt_id: HP:0006360 def: "An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone." [HPO:probinson] xref: UMLS:C1857139 "Abnormal metaphyseal trabeculation" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005090 name: Lateral femoral bowing alt_id: HP:0005022 def: "A lateral bending or abnormal curvature of the femur." [HPO:probinson] xref: UMLS:C1866737 "Lateral femoral bowing" is_a: HP:0002980 ! Femoral bowing property_value: HP:0040005 "A lateral bending or abnormal curvature of the `femur` (FMA:9611)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005092 name: Streaky metaphyseal sclerosis def: "The presence of streaks (bands) of abnormally increased density of metaphyseal bone." [HPO:probinson] is_a: HP:0004979 ! Metaphyseal sclerosis [Term] id: HP:0005093 name: Absent proximal radial epiphyses def: "Absence of the proximal radial epiphysis." [HPO:curators] xref: UMLS:C1855301 "Absent proximal radial epiphyses" is_a: HP:0010577 ! Absent epiphyses is_a: HP:0010596 ! Abnormality of the proximal radial epiphysis [Term] id: HP:0005096 name: Distal femoral bowing def: "A bending or abnormal curvature of the distal portion of the femur." [HPO:probinson] xref: UMLS:C1860107 "Distal femoral bowing" is_a: HP:0002980 ! Femoral bowing property_value: HP:0040005 "A bending or abnormal curvature of the distal portion of the `femur` (FMA:9611)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005099 name: Severe hydrops fetalis synonym: "Severe hydrops" EXACT [] xref: UMLS:C1866048 "Severe hydrops fetalis" is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0005100 name: premature birth following premature rupture of fetal membranes is_a: HP:0001788 ! Premature rupture of membranes [Term] id: HP:0005101 name: High-frequency hearing impairment alt_id: HP:0008522 alt_id: HP:0008584 alt_id: HP:0008597 def: "A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)." [HPO:probinson] comment: High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally. synonym: "Hearing loss, high-frequency" EXACT [] synonym: "High frequency hearing loss" EXACT [] synonym: "High-frequency deafness" EXACT [] synonym: "Progressive high frequency hearing loss" EXACT [] synonym: "Progressive high-frequency hearing loss" EXACT [] xref: MeSH:D006316 "Hearing Loss, High-Frequency" xref: UMLS:C0018780 "Hearing Loss, High-Frequency" is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "A type of `hearing impairment` (HP:0000365) affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-25T05:03:00Z [Term] id: HP:0005102 name: Cochlear degeneration alt_id: HP:0008156 def: "Degeneration of the cochlea." [HPO:probinson] synonym: "Progressive cochlear degeneration" EXACT [] xref: UMLS:C1849095 "Cochlear degeneration" is_a: HP:0000375 ! Abnormality of cochlea property_value: HP:0040005 "`Degeneration` (PATO:0002037) of the `cochlea` (FMA:60201)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-25T05:06:00Z [Term] id: HP:0005103 name: Calcification of the auricular cartilage alt_id: HP:0008549 def: "Ossification affecting the external ear cartilage." [HPO:probinson, pmid:15523361, pmid:23259082] synonym: "Cartilaginous ossification of pinnae" EXACT [] synonym: "Ear cartilage calcification" RELATED [] synonym: "Ossification of pinnae" EXACT [] synonym: "Petrified ear" EXACT [] is_a: HP:0000377 ! Abnormality of the pinna is_a: HP:0100593 ! Calcification of cartilage property_value: HP:0040005 "Ossification affecting the `external ear cartilage` (FMA:61339)." xsd:string {xref="HPO:probinson", xref="pmid:15523361", xref="pmid:23259082"} created_by: peter creation_date: 2008-03-25T05:09:00Z [Term] id: HP:0005104 name: Hypoplastic nasal septum def: "Underdevelopment of the nasal septum." [HPO:curators] xref: UMLS:C1861328 "Hypoplastic nasal septum" is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum created_by: peter creation_date: 2008-03-25T05:15:00Z [Term] id: HP:0005105 name: Abnormal nasal morphology comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-25T05:21:00Z [Term] id: HP:0005106 name: Abnormality of the vertebral endplates def: "Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs." [HPO:curators] is_a: HP:0003312 ! Abnormal form of the vertebral bodies created_by: peter creation_date: 2008-03-25T06:01:00Z [Term] id: HP:0005107 name: Abnormality of the sacrum def: "An abnormality of the sacral bone." [HPO:probinson] subset: hposlim_core is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "An abnormality of the `sacral bone` (FMA:16202)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-25T06:03:00Z [Term] id: HP:0005108 name: Abnormality of the intervertebral disk def: "An abnormality of the intervertebral disk." [HPO:probinson] comment: Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. subset: hposlim_core is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "An abnormality of the `intervertebral disk` (FMA:10446)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-25T06:05:00Z [Term] id: HP:0005109 name: Abnormality of the Achilles tendon def: "An abnormality of the Achilles tendon." [HPO:probinson] synonym: "Abnormality of the calcaneal tendon" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0100261 ! Abnormal tendon morphology property_value: HP:0040005 "An abnormality of the `Achilles tendon` (FMA:51061)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-25T06:21:00Z [Term] id: HP:0005110 name: Atrial fibrillation alt_id: HP:0001715 alt_id: HP:0005179 def: "An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute." [HPO:probinson] comment: The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately. xref: MeSH:D001281 "Atrial fibrillation" xref: UMLS:C0004238 "Atrial Fibrillation" is_a: HP:0001692 ! Primary atrial arrhythmia created_by: peter creation_date: 2008-03-25T06:29:00Z [Term] id: HP:0005111 name: Dilatation of the ascending aorta alt_id: HP:0005128 synonym: "Dilation of the ascending aorta" EXACT [] is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:32:00Z [Term] id: HP:0005112 name: Dilatation of the abdominal aorta is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:33:00Z [Term] id: HP:0005113 name: Dilatation of the aortic arch alt_id: HP:0004965 synonym: "Aortic arch dilatation" EXACT [] xref: UMLS:C1851119 "Aortic arch dilatation" is_a: HP:0001724 ! Aortic dilatation is_a: HP:0012303 ! Abnormality of the aortic arch created_by: peter creation_date: 2008-03-25T06:34:00Z [Term] id: HP:0005114 name: Abnormalities of the peripheral arteries is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2008-03-25T06:35:00Z [Term] id: HP:0005115 name: Supraventricular arrhythmia def: "A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm." [HPO:probinson] comment: Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles. synonym: "arrhythmias, Supraventricular" EXACT [HPO:skoehler] xref: UMLS:C0428974 "Supraventricular arrhythmia" is_a: HP:0011675 ! Arrhythmia created_by: peter creation_date: 2008-03-25T06:37:00Z [Term] id: HP:0005116 name: Arterial tortuosity def: "Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators] xref: UMLS:C1859726 "ARTERIAL TORTUOSITY" is_a: HP:0004948 ! Vascular tortuosity is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2008-03-25T06:39:00Z [Term] id: HP:0005117 name: Elevated diastolic blood pressure def: "Abnormal increase in diastolic blood pressure." [HPO:probinson] comment: Normal diastolic blood pressure is less than 80 mmHg. xref: UMLS:C1840375 "Elevated diastolic blood pressure" is_a: HP:0000822 ! Hypertension created_by: peter creation_date: 2008-03-25T06:43:00Z [Term] id: HP:0005120 name: Abnormality of cardiac atrium def: "An abnormality of a cardiac atrium." [HPO:probinson] is_a: HP:0002564 ! Malformation of the heart and great vessels property_value: HP:0040005 "An abnormality of a `cardiac atrium` (FMA:7099)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-26T04:12:00Z [Term] id: HP:0005121 name: Posterior scalloping of vertebral bodies alt_id: HP:0004572 alt_id: HP:0004579 def: "An excessive concavity of the posterior surface of one or more vertebral bodies." [HPO:probinson] comment: The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. synonym: "Posterior vertebral body scalloping" EXACT [] is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0005129 name: Congenital hypertrophy of left ventricle is_a: HP:0001712 ! Left ventricular hypertrophy [Term] id: HP:0005130 name: Restrictive heart failure xref: UMLS:C1832374 "Restrictive heart failure" is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0005132 name: Pericardial constriction xref: UMLS:C0240709 "Pericardial constriction" is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0005133 name: Right ventricular dilatation def: "Enlargement of the chamber of the right ventricle." [HPO:probinson, pmid:17715105] xref: UMLS:C0344893 "Right ventricular dilatation" is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0005134 name: Absence of the pulmonary valve alt_id: HP:0005131 def: "Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries." [DDD:dbrown] comment: The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients. synonym: "Absent pulmonary valve" EXACT [] xref: UMLS:C0265831 "Absent pulmonary valve" is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005135 name: EKG: T-wave abnormalities def: "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles." [HPO:probinson] xref: UMLS:C1839341 "T-wave abnormalities" is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0005136 name: Premature calcification of mitral annulus def: "Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus . MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual." [HPO:probinson] is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005141 name: Episodes of ventricular tachycardia is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0005143 name: Anomalous origin of right pulmonary artery from ascending aorta def: "The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [DDD:dbrown] is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta [Term] id: HP:0005144 name: Left ventricular septal hypertrophy xref: UMLS:C1845019 "Left ventricular septal hypertrophy" is_a: HP:0010438 ! Abnormality of the ventricular septum [Term] id: HP:0005145 name: Coronary artery stenosis xref: UMLS:C0242231 "Coronary Artery Stenosis" is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0005146 name: Cardiac valve calcification def: "Abnormal calcification of a cardiac valve." [HPO:probinson] synonym: "Calcifications of the cardiac valves" EXACT [] is_a: HP:0001654 ! Abnormality of the heart valves is_a: HP:0011915 ! Cardiovascular calcification property_value: HP:0040005 "Abnormal calcification of a `cardiac valve` (FMA:7110)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005147 name: Bidirectional ventricular ectopy xref: UMLS:C1969410 "Bidirectional ventricular ectopy" is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005148 name: Pulmonary valve defects xref: UMLS:C1860165 "Pulmonary valve defects" is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005150 name: Abnormal atrioventricular conduction xref: UMLS:C1834655 "Atrioventricular conduction disturbances" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0005151 name: Preductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch." [DDD:dbrown] comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. synonym: "Proximal aortic coarctation" EXACT [] xref: UMLS:C1840313 "Proximal aortic coarctation" is_a: HP:0012305 ! Coarctation of the descending aortic arch property_value: HP:0040005 "Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the `preductal region of aortic arch` (FMA:3774)." xsd:string {xref="DDD:dbrown"} [Term] id: HP:0005152 name: Oncocytic cardiomyopathy xref: UMLS:C1708371 "Oncocytic cardiomyopathy" is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0005155 name: Ventricular escape rhythms xref: UMLS:C0232216 "Ventricular escape rhythms" is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005156 name: Hypoplastic left atrium xref: UMLS:C1970625 "Hypoplastic left atrium" is_a: HP:0005120 ! Abnormality of cardiac atrium [Term] id: HP:0005157 name: Concentric hypertrophic cardiomyopathy alt_id: HP:0001672 def: "Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy." [HPO:probinson] synonym: "Symmetric, concentric, hypertrophic cardiomyopathy" EXACT [] xref: UMLS:C0238044 "Concentric hypertrophic cardiomyopathy" is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0005160 name: Total anomalous pulmonary venous return alt_id: HP:0005153 alt_id: HP:0005175 def: "Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium." [HPO:probinson] comment: Pulmonary veins drain through abnormal connections to the right atrium. synonym: "Total anomalous pulmonary venous connection" EXACT [] synonym: "Total anomalous pulmonary venous drainage" EXACT [] xref: UMLS:C0238400 "Total anomalous pulmonary venous return NOS" is_a: HP:0010772 ! Anomalous pulmonary venous return [Term] id: HP:0005162 name: Impaired left ventricular function alt_id: HP:0005154 synonym: "Left ventricular impairment" EXACT [] xref: UMLS:C1846679 "Left ventricular impairment" is_a: HP:0001711 ! Abnormality of the left ventricle [Term] id: HP:0005164 name: Dysplastic pulmonary valve xref: UMLS:C1866206 "Dysplastic pulmonary valve" is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005165 name: Shortened PR interval def: "Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long." [HPO:probinson] synonym: "Electrocardiographic short PR interval" EXACT [] synonym: "Short P-R interval" EXACT [] synonym: "Shortened PR interval on EKG" EXACT [] xref: UMLS:C0520878 "Short PR interval" is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0005168 name: Elevated right atrial pressure xref: UMLS:C1867421 "Elevated right atrial pressure" is_a: HP:0005120 ! Abnormality of cardiac atrium [Term] id: HP:0005170 name: Complete heart block with broad RS complexes is_a: HP:0001709 ! Third degree atrioventricular block [Term] id: HP:0005172 name: Left postterior fascicular block def: "Conduction block in the posterior division of the left bundle branch of the bundle of His." [HPO:probinson] synonym: "Left posterior hemiblock" EXACT [] is_a: HP:0011713 ! Left bundle branch block [Term] id: HP:0005173 name: Calcific aortic valve stenosis def: "A type of aortic valve stenosis associated with calcification of the aortic heart valve." [HPO:probinson] comment: This is the most common type of aortic valve stenosis in the population. It is a common complication of bicuspid aortic valve and is relatively common in persons above the age of 65 years in the general population. synonym: "Aortic stenosis due to calcifications" EXACT [] is_a: HP:0001650 ! Aortic valve stenosis [Term] id: HP:0005174 name: Membranous subvalvular aortic stenosis def: "Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency." [HPO:probinson, pmid:5817839] comment: An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter. xref: UMLS:C1848978 "Membranous subvalvular aortic stenosis" is_a: HP:0001682 ! Subaortic stenosis [Term] id: HP:0005176 name: Dysplastic aortic valve xref: UMLS:C1866207 "Dysplastic aortic valve" is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0005177 name: Premature arteriosclerosis def: "Arteriosclerosis occuring at an age that is younger than usual." [HPO:probinson] xref: UMLS:C1848486 "Premature arteriosclerosis" is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0005178 name: Complete heart block with narrow QRS complexes is_a: HP:0001709 ! Third degree atrioventricular block [Term] id: HP:0005180 name: Tricuspid regurgitation alt_id: HP:0004753 def: "Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium." [HPO:probinson] comment: This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316). synonym: "Tricuspid insufficiency" EXACT [] xref: MeSH:D014262 "Tricuspid Valve Insufficiency" xref: UMLS:C0040961 "Tricuspid insufficiency" is_a: HP:0001702 ! Abnormality of the tricuspid valve [Term] id: HP:0005181 name: Premature coronary artery disease xref: UMLS:C1867743 "Premature coronary artery disease" is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0005182 name: Bicuspid pulmonary valve def: "The presence of a bicuspid pulmonary valve." [HPO:probinson] comment: The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. xref: UMLS:C0344987 "Bicuspid pulmonary valve" is_a: HP:0001641 ! Abnormality of the pulmonary valve property_value: HP:0040005 "The presence of a bicuspid `pulmonary valve` (FMA:7246)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005183 name: Pericardial lymphangiectasia xref: UMLS:C1856140 "Pericardial lymphangiectasia" is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0005184 name: Prolonged QTc interval xref: UMLS:C1560305 "Prolonged QTc interval" is_a: HP:0001657 ! Prolonged QT interval [Term] id: HP:0005185 name: Global systolic dysfunction xref: UMLS:C1847397 "Global systolic dysfunction" is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0005186 name: Synovial hypertrophy xref: UMLS:C0410574 "Synovial hypertrophy" is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0005187 name: Progressive joint destruction is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0005190 name: Proximal finger joint hyperextensibility is_a: HP:0001187 ! Hyperextensibility of the finger joints [Term] id: HP:0005191 name: Congenital knee dislocation xref: UMLS:C0265669 "Congenital knee dislocation" is_a: HP:0004976 ! Knee dislocation [Term] id: HP:0005193 name: Restricted large joint movement is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0005194 name: Flattened metatarsal heads def: "Abnormally flat shape of the heads of the metatarsal bones." [HPO:probinson] comment: The metatarsal heads articulate with the proximal phalanges of the toes. is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0005195 name: Polyarticular arthropathy is_a: HP:0003040 ! Arthropathy [Term] id: HP:0005197 name: Generalized morning stiffness def: "A sensation of stiffness in the joints that occurs following waking up in the morning." [HPO:curators] is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005198 name: Stiff interphalangeal joints def: "Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity." [HPO:curators] xref: UMLS:C0162298 "Stiff joint" is_a: HP:0001387 ! Joint stiffness is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0005199 name: Aplasia of the abdominal wall musculature def: "Absence of the abdominal musculature." [HPO:probinson] synonym: "Absent abdominal musculature" EXACT [] is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature property_value: HP:0040005 "Absence of the `abdominal musculature` (FMA:86917)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005200 name: Retroperitoneal fibrosis xref: MeSH:D012185 "Retroperitoneal fibrosis" xref: UMLS:C0035357 "Retroperitoneal fibrosis" is_a: HP:0002585 ! Abnormality of the peritoneum [Term] id: HP:0005201 name: Anomalous splenoportal venous system is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0005202 name: Helicobacter pylori infection is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005203 name: Spontaneous esophageal perforation alt_id: HP:0005251 def: "The occurrence of the full-thickness tear (perforation) of the wall of the esophagus." [HPO:probinson] comment: Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis. synonym: "Boerhaave syndrome" RELATED [] synonym: "Spontaneous esophageal rupture" EXACT [] is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0005206 name: Pancreatic pseudocyst def: "Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis." [HPO:probinson] xref: MeSH:D010192 "Pancreatic pseudocyst" xref: UMLS:C0030299 "Pancreatic Pseudocysts" is_a: HP:0012090 ! Abnormality of pancreas morphology [Term] id: HP:0005207 name: Gastric hypertrophy def: "Hypertrophy of the stomach." [HPO:probinson] xref: UMLS:C1834341 "Gastric hypertrophy" is_a: HP:0002577 ! Abnormality of the stomach property_value: HP:0040005 "`Hypertrophy` (MPATH:159) of the `stomach` (FMA:7148)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005208 name: Secretory diarrhea def: "Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption." [HPO:probinson] xref: UMLS:C0267661 "Congenital secretory diarrhea" is_a: HP:0002014 ! Diarrhea [Term] id: HP:0005209 name: Intrahepatic bile duct cysts def: "The presence of cyst of the intrahepatic bile duct." [HPO:probinson] is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct property_value: HP:0040005 "The presence of `cyst` (MPATH:62) of the `intrahepatic bile duct` (FMA:15766)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005210 name: Hypoplastic colon def: "Underdevelopment of the colon." [HPO:probinson] synonym: "Hypoplasia of the colon" EXACT [] is_a: HP:0100811 ! Aplasia/Hypoplasia of the colon [Term] id: HP:0005211 name: Midgut malrotation xref: UMLS:C1849706 "Midgut malrotation" is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0005212 name: Anal mucosal leukoplakia def: "Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation." [HPO:probinson, pmid:13316552] xref: UMLS:C1844632 "Anal mucosal leukoplakia" is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0005213 name: Pancreatic calcification def: "The presence of abnormal calcium deposition lesions in the pancreas." [HPO:probinson] synonym: "Pancreatic calcifications" EXACT [] xref: UMLS:C1842406 "Pancreatic calcifications" is_a: HP:0010766 ! Ectopic calcification is_a: HP:0012090 ! Abnormality of pancreas morphology property_value: HP:0040005 "The presence of abnormal `calcium deposition` (MPATH:36) lesions in the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005214 name: Intestinal obstruction alt_id: HP:0005239 def: "Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal." [HPO:probinson] xref: MeSH:D007415 "Intestinal Obstruction" xref: UMLS:C0021843 "Intestinal Obstruction" is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005215 name: Frequent Giardia lamblia infestation def: "Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection." [HPO:probinson] is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005216 name: Chewing difficulties xref: UMLS:C0239043 "Chewing difficulties" is_a: HP:0002015 ! Dysphagia [Term] id: HP:0005217 name: Duplication of internal organs is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0005218 name: Anoperineal fistula def: "The presence of a fistula (abnormal tunnel) between the anal canal and the perineum." [HPO:probinson] xref: UMLS:C1835798 "Anoperineal fistula" is_a: HP:0004871 ! Perineal fistula is_a: HP:0010447 ! Anal fistula property_value: HP:0040005 "The presence of a fistula (abnormal tunnel) between the `anal canal` (FMA:15703) and the `perineum` (FMA:9579)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005219 name: Absence of intrinsic factor def: "Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12." [HPO:probinson] comment: This feature can be ascertained by immunoassay of gastric juices. synonym: "Intrinsic factor absent from gastric juice" EXACT [] is_a: HP:0002577 ! Abnormality of the stomach property_value: HP:0040005 "Absence of `gastric intrinsic factor` (PRO:000007975), which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005220 name: Multiple intestinal neurofibromatosis is_a: HP:0001067 ! Neurofibromas is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0005222 name: Bowel diverticulosis def: "The presence of multiple diverticula of the intestine." [HPO:probinson] synonym: "Bowel diverticula" RELATED [] xref: UMLS:C1394691 "Bowel diverticula" is_a: HP:0002242 ! Abnormality of the intestine property_value: HP:0040005 "The presence of `multiple` (PATO:0002118) `diverticula` (MPATH:68) of the `intestine` (FMA:7199)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005223 name: Duplicated colon xref: UMLS:C1850328 "Duplicated colon" is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0100668 ! Intestinal duplication [Term] id: HP:0005224 name: Rectal abscess alt_id: HP:0002567 def: "A collection of pus in the area of the rectum." [HPO:probinson] synonym: "Perirectal abscess" EXACT [] xref: UMLS:C0149770 "Rectal abscess" is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0002722 ! Recurrent abscess formation [Term] id: HP:0005225 name: Intestinal edema def: "Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds." [HPO:6045396, HPO:probinson] comment: This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram. xref: UMLS:C1142262 "Intestinal edema" is_a: HP:0000969 ! Edema is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0005227 name: Adenomatous colonic polyposis alt_id: HP:0005226 def: "Presence of multiple adenomatous polyps in the colon." [HPO:probinson] synonym: "Multiple adenomatous colon polyps" EXACT [] synonym: "Multiple colonic adenomatous polyps" EXACT [] xref: MEDRA:10056981 "Adenomatous polyposis coli" xref: MeSH:D011125 "Adenomatous Polyposis Coli" xref: SNOMEDCT:70921007 "Adenomatous polyposis coli" xref: UMLS:C1868071 "Multiple colonic adenomatous polyps" is_a: HP:0030255 ! Large intestinal polyposis is_a: HP:0100273 ! Neoplasm of the colon [Term] id: HP:0005229 name: Jejunoileal ulceration is_a: HP:0001549 ! Abnormality of the ileum is_a: HP:0005265 ! Abnormality of the jejunum [Term] id: HP:0005230 name: Biliary tract obstruction def: "Obstruction affecting the biliary tree." [HPO:probinson] xref: UMLS:C0400979 "Biliary Tract Obstruction" is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: HP:0040005 "`Obstruction` (MPATH:80) affecting the `biliary tree` (FMA:14665)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005231 name: Chronic gastritis def: "A chronic form of gastritis." [HPO:probinson] xref: UMLS:C0085695 "Chronic gastritis NOS" is_a: HP:0005263 ! Gastritis property_value: HP:0040005 "A `chronic` form of `gastritis` (HP:0005263)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005232 name: Pancreatic dysplasia def: "The presence of developmental dysplasia of the pancreas." [HPO:probinson] comment: Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture. is_a: HP:0012090 ! Abnormality of pancreas morphology property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005233 name: Hypoplasia of the gallbladder def: "The presence of a hypoplastic gallbladder." [HPO:probinson] synonym: "Hypoplastic gallbladder" EXACT [] is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder property_value: HP:0040005 "The presence of a `hypoplastic` (PATO:0000645) `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005234 name: Neonatal intestinal obstruction xref: UMLS:C0859974 "Neonatal intestinal obstruction" is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0005235 name: Jejunal atresia alt_id: HP:0011101 def: "A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum." [HPO:probinson] is_a: HP:0005265 ! Abnormality of the jejunum is_a: HP:0011100 ! Intestinal atresia property_value: HP:0040005 "A developmental defect resulting in abnormal closure, or `atresia` (PATO:0001819) of the tubular structure of the `jejunum` (FMA:7207)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005236 name: Chronic calcifying pancreatitis def: "A form of chronic pancreatitis that is characterized by calcification." [HPO:probinson] is_a: HP:0001733 ! Pancreatitis property_value: HP:0040005 "A form of `chronic pancreatitis` (HP:0006280) that is characterized by `calcification` (PATO:0001447)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005237 name: Degenerative liver disease def: "The presence of degenerative changes of the liver." [HPO:probinson] is_a: HP:0001392 ! Abnormality of the liver property_value: HP:0040005 "The presence of `degenerative` (PATO:0000639) changes of the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005238 name: Discrete intestinal polyps xref: UMLS:C0021846 "Intestinal Polyps" is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0005240 name: Esophageal obstruction xref: UMLS:C0239296 "ESOPHAGEAL OBSTRUCTION" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005241 name: Total intestinal aganglionosis def: "A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel." [HPO:probinson, pmid:596929] is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0005242 name: Extrahepatic biliary duct atresia alt_id: HP:0006553 def: "Atresia in the extrahepatic bile duct." [HPO:probinson] synonym: "Biliary atresia, extrahepatic" EXACT [] is_a: HP:0005912 ! Biliary atresia property_value: HP:0040005 "`Atresia` (PATO:0001819) in the `extrahepatic bile duct` (FMA:14678)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005243 name: Partial abdominal muscle agenesis def: "Failure to form of portions of the abdominal musculature." [HPO:probinson] is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature property_value: HP:0040005 "Failure to form of portions of the `abdominal musculature` (FMA:86917)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005244 name: Gastrointestinal infarctions is_a: HP:0012719 ! Functional abnormality of the gastrointestinal tract [Term] id: HP:0005245 name: Intestinal hypoplasia def: "Developmental hypoplasia of the intestine." [HPO:probinson] synonym: "Hypoplastic intestines" EXACT [] is_a: HP:0002242 ! Abnormality of the intestine property_value: HP:0040005 "Developmental hypoplasia of the `intestine` (FMA:7199)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005246 name: Giant hypertrophic gastritis def: "A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds." [HPO:probinson] synonym: "Menetrier disease" RELATED [] xref: UMLS:C0017155 "Giant Hypertrophic Gastritis" is_a: HP:0005263 ! Gastritis property_value: HP:0040005 "A type of `gastritis` (HP:0005263) characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005247 name: Hypoplasia of the abdominal wall musculature def: "Underdevelopment of the abdominal musculature." [HPO:probinson] synonym: "Abdominal muscular hypoplasia" EXACT [] is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature property_value: HP:0040005 "Underdevelopment of the `abdominal musculature` (FMA:86917)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005248 name: Intrahepatic biliary atresia def: "Atresia in the intrahepatic bile duct." [HPO:probinson] synonym: "Intrahepatic atresia of biliary duct" EXACT [] xref: UMLS:C0431593 "Intrahepatic biliary atresia" is_a: HP:0005912 ! Biliary atresia is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct property_value: HP:0040005 "`Atresia` (PATO:0001819) in the `intrahepatic bile duct` (FMA:15766)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005249 name: Functional intestinal obstruction is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005250 name: High intestinal obstruction is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0005253 name: Increased anterioposterior diameter of thorax synonym: "Increased anterioposterior diameter of chest" EXACT [] is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0005254 name: Unilateral chest hypoplasia xref: UMLS:C1845576 "Unilateral chest hypoplasia" is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0005255 name: Absence of pectoralis minor muscle def: "Aplasia (congenital absence) of the pectoralis minor." [HPO:probinson] synonym: "Pectoralis minor aplasia" EXACT [] xref: UMLS:C1834393 "Pectoralis minor aplasia" is_a: HP:0011957 ! Abnormality of the pectoral muscle property_value: HP:0040005 "Aplasia (congenital absence) of the `pectoralis minor` (FMA:13109)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005256 name: Unilateral absence of pectoralis major muscle def: "Aplasia (congenital absence) of the pectoralis minor on only one side of the chest." [HPO:probinson] synonym: "Unilateral aplasia of pectoralis major muscle" EXACT [] is_a: HP:0011957 ! Abnormality of the pectoral muscle property_value: HP:0040005 "Aplasia (congenital absence) of the `pectoralis minor` (FMA:13109) on only one side of the chest." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005257 name: Thoracic hypoplasia alt_id: HP:0001590 synonym: "Small chest" EXACT [] synonym: "Small thorax" EXACT [] xref: UMLS:C1842694 "Thoracic hypoplasia" is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0005258 name: Pectoral muscle hypoplasia/aplasia is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0005259 name: Abnormal facility in opposing the shoulders is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0005261 name: Joint hemorrhage alt_id: HP:0001391 alt_id: HP:0005196 def: "Hemorrhage occurring within a joint." [HPO:gcarletti] synonym: "Hemarthroses" EXACT [] synonym: "Hemarthrosis" EXACT [] synonym: "Joint haemorrhage" EXACT [] synonym: "Spontaneous joint hemorrhage" EXACT [] xref: MeSH:D006395 "Hemarthrosis" xref: UMLS:C0018924 "Hemarthroses" is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011029 ! Internal hemorrhage property_value: HP:0040005 "`Hemorrhage` (MPATH:119) occurring within a `joint` (FMA:7490)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005262 name: Abnormality of the synovia is_a: HP:0001367 ! Abnormal joint morphology created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005263 name: Gastritis def: "The presence of inflammation of the gastric mucous membrane." [HPO:probinson] subset: hposlim_core xref: MEDRA:10017853 "Gastritis" xref: MeSH:D005756 "Gastritis" xref: SNOMEDCT:4556007 "Gastritis" xref: UMLS:C0017152 "Gastritis" is_a: HP:0004295 ! Abnormality of the gastric mucosa property_value: HP:0040005 "The presence of `inflammation` (MPATH:212) of the `gastric mucous membrane` (FMA:14907)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-26T04:32:00Z [Term] id: HP:0005264 name: Abnormality of the gallbladder def: "An abnormality of the gallbladder." [HPO:probinson] synonym: "Anomaly of the gallbladder" EXACT [] is_a: HP:0004297 ! Abnormality of the biliary system property_value: HP:0040005 "An abnormality of the `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-26T04:40:00Z [Term] id: HP:0005265 name: Abnormality of the jejunum def: "An abnormality of the jejunum, i.e., of the middle section of the small intestine." [HPO:probinson] is_a: HP:0002244 ! Abnormality of the small intestine property_value: HP:0040005 "An abnormality of the `jejunum` (FMA:7207), i.e., of the middle section of the small intestine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-26T04:44:00Z [Term] id: HP:0005266 name: Intestinal polyp def: "A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [HPO:probinson] synonym: "Intestinal polyps" RELATED [] xref: MeSH:D007417 "Intestinal Polyps" xref: UMLS:C0021846 "Intestinal Polyps" is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract created_by: peter creation_date: 2008-03-26T04:46:00Z [Term] id: HP:0005267 name: Premature delivery because of cervical insufficiency or membrane fragility is_a: HP:0001622 ! Premature birth [Term] id: HP:0005268 name: Spontaneous abortion def: "A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy." [HPO:probinson] xref: MeSH:D000022 "Abortion, Spontaneous" xref: UMLS:C0000786 "Spontaneous abortion" is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0005272 name: Prominent nasolabial fold def: "Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure)." [pmid:19125428] subset: hposlim_core synonym: "Nasolabial crease, prominent" EXACT [] xref: UMLS:C1866487 "Prominent nasolabial folds" is_a: HP:0005289 ! Abnormality of the nasolabial region [Term] id: HP:0005273 name: Absent nasal septal cartilage def: "Lack of the cartilage of the nasal septum." [HPO:probinson] subset: hposlim_core synonym: "Absent nasal septum" EXACT [] is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum property_value: HP:0040005 "Lack of the cartilage of the `nasal septum` (FMA:54375)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005274 name: Prominent nasal tip xref: UMLS:C1856118 "Prominent nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005275 name: Cartilaginous ossification of nose is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0005278 name: Hypoplastic nasal tip xref: UMLS:C1844731 "Hypoplastic nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005280 name: Depressed nasal bridge alt_id: HP:0000425 alt_id: HP:0000428 alt_id: HP:0000439 alt_id: HP:0000459 alt_id: HP:0004413 alt_id: HP:0004505 alt_id: HP:0004506 alt_id: HP:0004666 alt_id: HP:0005119 alt_id: HP:0005284 def: "Posterior positioning of the nasal root in relation to the overall facial profile for age." [pmid:19152422] comment: The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background. subset: hposlim_core synonym: "Depressed nasal root" EXACT [] synonym: "DEPRESSED NASAL ROOT/BRIDGE" RELATED [HPO:skoehler] synonym: "Flat nasal bridge" EXACT [] synonym: "Flat nasal root" EXACT [] synonym: "Flat, nasal bridge" EXACT [] synonym: "Flattened nasal bridge" EXACT [] synonym: "Low nasal bridge" EXACT [] xref: UMLS:C1837734 "Low nasal bridge" xref: UMLS:C1850291 "Flattened nasal bridge" xref: UMLS:C1861931 "Depressed nasal root" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005281 name: Hypoplastic nasal bridge xref: UMLS:C1865597 "Hypoplastic nasal bridge" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005285 name: Absent nasal bridge xref: UMLS:C1837888 "Absent nasal bridge" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005288 name: Abnormality of the nares def: "Abnormality of the nostril." [HPO:curators] subset: hposlim_core synonym: "Abnormality of the nostrils" EXACT [] is_a: HP:0000366 ! Abnormality of the nose property_value: HP:0040005 "Abnormality of the `nostril` (FMA:59645)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2008-03-26T06:04:00Z [Term] id: HP:0005289 name: Abnormality of the nasolabial region is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-26T06:07:00Z [Term] id: HP:0005290 name: Internal carotid artery hypoplasia is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005291 name: Inflammatory arteriopathy is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005292 name: Intimal thickening in the coronary arteries is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0005293 name: Venous insufficiency xref: MeSH:D014689 "Venous Insufficiency" xref: UMLS:C0042485 "Venous Insufficiency" is_a: HP:0002624 ! Venous abnormality [Term] id: HP:0005294 name: Arterial dissection def: "A separation (dissection) of the layers of an artery." [HPO:probinson] xref: UMLS:C0002949 "Arterial dissection" is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0005295 name: Pseudocoarctation of the aorta def: "Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum." [HPO:probinson, pmid:17593995, pmid:18651460] comment: Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch. is_a: HP:0012303 ! Abnormality of the aortic arch [Term] id: HP:0005296 name: Occlusive vascular disease is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005297 name: Premature occlusive vascular disease xref: UMLS:C1867457 "Premature occlusive vascular disease" is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005298 name: Atrioventricular canal defect with right ventricle aorta and pulmonary atresia def: "An atrioventricular canal defect whereby the aorta arises from right ventricle instead of from the left ventricle combined with atresia of the pulmonic valve." [HPO:probinson, pmid:12632326] is_a: HP:0006695 ! Atrioventricular canal defect [Term] id: HP:0005299 name: Premature peripheral vascular disease is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005300 name: Nodular inflammatory vasculitis is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005301 name: Persistent left superior vena cava xref: UMLS:C0265931 "Persistent left superior vena cava" is_a: HP:0005345 ! Abnormality of the vena cava [Term] id: HP:0005302 name: Carotid artery tortuosity def: "Abnormal tortuous (i.e., twisted) form of the carotid arteries." [HPO:probinson] synonym: "Tortuous carotid arteries" EXACT [] xref: UMLS:C1303076 "Tortuous carotid artery" is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005303 name: Aortic arch calcification def: "Calcification, that is, pathological deposition of calcium salts in the arch of aorta." [HPO:probinson] xref: UMLS:C1969291 "Aortic arch calcification" is_a: HP:0004962 ! Thoracic aorta calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts in the `arch of aorta` (FMA:3768)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005304 name: Hypoplastic pulmonary veins xref: UMLS:C1970501 "Hypoplastic pulmonary veins" is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005305 name: Cerebral venous thrombosis def: "Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [HPO:probinson] synonym: "Cerebral thrombosis" EXACT [] synonym: "Cerebral vein thrombosis" EXACT [] xref: UMLS:C0151945 "Cerebral vein thrombosis" is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0005306 name: Capillary hemangiomas def: "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:probinson] subset: hposlim_core synonym: "Capillary hemangioma" EXACT [] xref: MeSH:D018324 "Capillary Hemangioma" xref: SNOMEDCT:83343001 "Capillary hemangioma" xref: UMLS:C0085666 "Capillary Hemangioma" is_a: HP:0001028 ! Hemangioma [Term] id: HP:0005307 name: Postural hypotension with compensatory tachycardia is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0005308 name: Pulmonary artery vasoconstriction xref: UMLS:C1867424 "Pulmonary artery vasoconstriction" is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0005309 name: Peripheral vascular insufficiency is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005310 name: Large vessel vasculitis def: "A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta." [HPO:probinson, pmid:16088500] is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005311 name: Agenesis of pulmonary vessels is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005312 name: Pulmonary aterial intimal fibrosis def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation." [HPO:probinson] comment: Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome. is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0005313 name: Arterial fibromuscular dysplasia xref: UMLS:C0016052 "Arterial fibromuscular dysplasia" is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0005314 name: Anomalous branches of internal carotid artery is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005315 name: Occlusive arterial disease xref: MeSH:D001157 "Arterial Occlusive Diseases" is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005316 name: Peripheral pulmonary vessel aplasia xref: UMLS:C1848877 "Peripheral pulmonary vessel aplasia" is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005317 name: Increased pulmonary vascular resistance xref: UMLS:C1867423 "Increased pulmonary vascular resistance" is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005318 name: Cerebral vasculitis def: "Inflammation of the blood vessels within the brain." [HPO:probinson] xref: MeSH:D020293 "Vasculitis, Central Nervous System" xref: UMLS:C0238051 "Cerebral Vasculitis" is_a: HP:0002633 ! Vasculitis is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0005320 name: Lack of facial subcutaneous fat is_a: HP:0003717 ! Minimal subcutaneous fat [Term] id: HP:0005321 name: Mandibulofacial dysostosis def: "A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations." [HPO:probinson] xref: MeSH:D008342 "Mandibulofacial Dysostosis" xref: UMLS:C0242387 "Mandibulofacial Dysostosis" is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0005322 name: Prominent nasal septum is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0005323 name: Hemifacial hypertrophy def: "Unilateral overgrowth of facial tissues, including muscles, bones and skin." [HPO:probinson] subset: hposlim_core is_a: HP:0000324 ! Facial asymmetry [Term] id: HP:0005324 name: Disturbance of facial expression def: "An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed." [DDD:cwright] xref: UMLS:C0015457 "Facial Expression" is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0005325 name: Extension of hair growth on temples to lateral eyebrow def: "A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows." [HPO:probinson] synonym: "Unusual hairline with hair growth on temples extending to lateral eyebrow" EXACT [] is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0005326 name: Hypoplastic philtrum alt_id: HP:0005331 def: "Underdevelopment of the philtrum." [HPO:probinson] xref: UMLS:C1856886 "Hypoplastic philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0005327 name: Loss of facial expression is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005328 name: Progeroid facial appearance alt_id: HP:0000335 alt_id: HP:0005333 def: "A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance." [HPO:probinson] synonym: "Aged facial appearance" EXACT [] synonym: "Prematurely aged face" EXACT [] synonym: "Prematurely aged facial appearance" EXACT [] synonym: "Wizened face" EXACT [] xref: UMLS:C1857710 "Wizened face" is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0005329 name: Fixed facial expression xref: UMLS:C1855353 "Fixed facial expression" is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005332 name: Recurrent mandibular subluxations def: "Recurrent partial dislocations of the mandible." [HPO:curators] xref: UMLS:C1857011 "Recurrent mandibular subluxations" is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0005335 name: Sleepy facial expression is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0005336 name: Forehead hyperpigmentation xref: UMLS:C1969673 "Forehead hyperpigmentation" is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0005338 name: Sparse lateral eyebrow alt_id: HP:0004521 alt_id: HP:0009923 def: "Decreased density/number and/or decreased diameter of lateral eyebrow hairs." [HPO:probinson] comment: Abnormal sparseness of the eyebrows laterally. subset: hposlim_core synonym: "Lateral hypoplasia of eyebrows" EXACT [] synonym: "Lateral thinning of eyebrows" EXACT [] synonym: "Laterally sparse eyebrow" EXACT [] synonym: "Laterally sparse eyebrows" EXACT [HPO:skoehler] synonym: "SPARSE LATERAL EYEBROWS" RELATED [HPO:skoehler] xref: UMLS:C1860829 "Laterally sparse eyebrow" is_a: HP:0000535 ! Sparse eyebrow [Term] id: HP:0005339 name: Abnormality of complement system def: "An abnormality of the complement system." [HPO:probinson, pmid:19388161] comment: The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. is_a: HP:0005368 ! Abnormality of humoral immunity created_by: peter creation_date: 2008-03-26T07:58:00Z [Term] id: HP:0005340 name: Spastic/hyperactive bladder is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0005341 name: Autonomic bladder dysfunction def: "Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system." [HPO:probinson] is_a: HP:0002459 ! Dysautonomia [Term] id: HP:0005343 name: Hypoplasia of the bladder alt_id: HP:0005342 def: "Underdevelopment of the urinary bladder." [HPO:probinson] synonym: "Hypoplastic bladder" EXACT [] xref: UMLS:C1855335 "Hypoplastic bladder" is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder property_value: HP:0040005 "Underdevelopment of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005344 name: Abnormality of the carotid arteries is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2008-03-26T06:37:00Z [Term] id: HP:0005345 name: Abnormality of the vena cava is_a: HP:0002597 ! Abnormality of the vasculature created_by: peter creation_date: 2008-03-26T06:40:00Z [Term] id: HP:0005346 name: Abnormal facial expression is_a: HP:0000271 ! Abnormality of the face created_by: peter creation_date: 2008-03-26T06:44:00Z [Term] id: HP:0005347 name: Cartilaginous trachea xref: UMLS:C1863363 "Cartilaginous trachea" is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0005348 name: Inspiratory stridor def: "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [HPO:curators] xref: UMLS:C0677600 "Inspiratory stridor" is_a: HP:0010307 ! Stridor [Term] id: HP:0005349 name: Hypoplasia of the epiglottis alt_id: HP:0008746 def: "Hypoplasia of the epiglottis." [HPO:probinson] synonym: "Hypoplastic epiglottis" EXACT [] xref: UMLS:C1850262 "Hypoplastic epiglottis" is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis property_value: HP:0040005 "Hypoplasia of the `epiglottis` (FMA:55130)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005352 name: Severe T-cell immunodeficiency is_a: HP:0005374 ! Cellular immunodeficiency [Term] id: HP:0005353 name: Susceptibility to herpesvirus is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005354 name: Absent cellular immunity xref: UMLS:C1849426 "Absent cellular immunity" is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005356 name: Decreased serum complement factor I xref: UMLS:C1970257 "Decreased serum complement factor I" is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005357 name: Defective B cell differentiation xref: UMLS:C1859624 "Defective B cell differentiation" is_a: HP:0005384 ! Defective B cell activation [Term] id: HP:0005359 name: Aplasia of the thymus def: "Absence of the thymus." [HPO:probinson] is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus property_value: HP:0040005 "Absence of the `thymus` (FMA:9607)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005360 name: Susceptibility to chickenpox is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005363 name: Partial humoral immunodeficiency is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005364 name: Severe viral infections is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005365 name: Severe B lymphocytopenia alt_id: HP:0002856 def: "A severe form of B lymphocytopenia in which the count of B cells is very low or absent." [HPO:probinson] synonym: "Absence of B cells" RELATED [] synonym: "Absent B cells" EXACT [] xref: UMLS:C1863715 "Absent B cells" is_a: HP:0010976 ! B lymphocytopenia property_value: HP:0040005 "A `severe` (PATO:0000396) form of `B lymphocytopenia` (HP:0010976) in which the count of B cells` (CL:0000236) is very low or absent." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005366 name: Recurrent streptococcus pneumoniae infections def: "Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae." [HPO:probinson] is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0005368 name: Abnormality of humoral immunity def: "An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system." [HPO:probinson] synonym: "Defective humoral immunity" EXACT [] is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0005369 name: Decreased serum complement factor H xref: UMLS:C1969222 "Decreased serum complement factor H" is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005372 name: Abnormality of B cell physiology alt_id: HP:0005398 def: "An abnormality of the physiological functioning of B cells." [HPO:probinson] comment: This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. synonym: "Reduced B cell function" EXACT [] xref: UMLS:C1849242 "Reduced B cell function" is_a: HP:0002846 ! Abnormality of B cells is_a: HP:0011017 ! Abnormality of cell physiology property_value: HP:0040005 "An abnormality of the physiological functioning of `B cells` (CL:0000236)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005374 name: Cellular immunodeficiency xref: UMLS:C1855204 "Cellular immunodeficiency" is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005375 name: Partial cellular immunodeficiency is_a: HP:0005374 ! Cellular immunodeficiency [Term] id: HP:0005376 name: Recurrent Haemophilus influenzae infections def: "Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae." [HPO:probinson] is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0005379 name: Severe T lymphocytopenia def: "A severe form of T lymphocytopenia in which the count of T cells is very low or absent." [HPO:probinson] synonym: "Absent peripheral blood T cells" RELATED [] xref: UMLS:C1832327 "Absent peripheral blood T cells" is_a: HP:0005403 ! T lymphocytopenia property_value: HP:0040005 "A `severe` (PATO:0000396) form of `T lymphocytopenia` (HP:0005403) in which the count of T cells is very low or absent." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005381 name: Recurrent meningococcal disease alt_id: HP:0005414 def: "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators] synonym: "Increased susceptibility to neisseria meningitidis infections" EXACT [] is_a: HP:0005430 ! Recurrent Neisserial infections [Term] id: HP:0005384 name: Defective B cell activation xref: UMLS:C1846551 "Defective B cell activation" is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005386 name: Recurrent protozoan infections def: "Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection." [HPO:probinson] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005387 name: Combined immunodeficiency xref: UMLS:C0494261 "Combined immunodeficiency" is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005389 name: Depletion of components of the alternative complement pathway is_a: HP:0005482 ! Abnormality of the alternate complement pathway [Term] id: HP:0005390 name: Recurrent opportunistic infections alt_id: HP:0005426 def: "Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system." [HPO:probinson] synonym: "Frequent opportunistic infections" EXACT [] xref: UMLS:C1832324 "Frequent opportunistic infections" is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005396 name: Susceptibility to coronavirus 229e is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005397 name: Exaggerated cellular immune processes xref: UMLS:C1867036 "Exaggerated cellular immune processes" is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005400 name: Reduction of neutrophil motility def: "An abnormal reduction of the cell motility of neutrophils." [HPO:probinson] xref: UMLS:C1849461 "Markedly reduced neutrophil motility" is_a: HP:0011990 ! Abnormality of neutrophil physiology property_value: HP:0040005 "An abnormal reduction of the cell motility of `neutrophils` (CL:0000775)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005401 name: Recurrent candida infections def: "An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections." [HPO:probinson] synonym: "Frequent candida infections" EXACT [] xref: UMLS:C1860128 "Frequent Candida infections" is_a: HP:0002841 ! Recurrent fungal infections [Term] id: HP:0005402 name: Primary T-lymphocyte immune abnormalities is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005403 name: T lymphocytopenia alt_id: HP:0005412 def: "An abnormally low count of T cells." [HPO:probinson] synonym: "Decreased numbers of circulating T cells" EXACT [] synonym: "Low T cell count" EXACT [] synonym: "Reduced number of T cells" EXACT [] is_a: HP:0011839 ! Abnormality of T cell number property_value: HP:0040005 "An abnormally low count of `T cells` (CL:0000084)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005404 name: Increase in B cell number def: "An abnormal increase from the normal count of B cells." [HPO:probinson] synonym: "Increased number of B cells" EXACT [] is_a: HP:0010975 ! Abnormality of B cell number is_a: HP:0100827 ! Lymphocytosis property_value: HP:0040005 "An abnormal increase from the normal count of `B cells` (CL:0000236)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005406 name: Recurrent bacterial skin infections alt_id: HP:0000983 def: "Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis." [HPO:probinson] comment: Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. synonym: "Recurrent cutaneous pyogenic infections" EXACT [] synonym: "Recurrent episodes of impetigo" EXACT [] synonym: "Recurrent episodes of infectious dermatitis" EXACT [] synonym: "Recurrent pyogenic skin infections" EXACT [] xref: UMLS:C1835686 "Recurrent bacterial skin infections" is_a: HP:0001581 ! Recurrent skin infections is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005407 name: Decreased number of CD4+ T cells alt_id: HP:0005480 def: "A decreased count of circulating CD4-positive helper T cells." [HPO:probinson] synonym: "Abnormality of CD4+ T cells" EXACT [] is_a: HP:0005403 ! T lymphocytopenia property_value: HP:0040005 "A decreased count of circulating `CD4-positive helper T cells` (CL:0000492)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005409 name: Markedly reduced T cell function xref: UMLS:C1834098 "Markedly reduced T cell function" is_a: HP:0005435 ! Impaired T cell function [Term] id: HP:0005411 name: Chronic intestinal candidiasis def: "Persistent overgrowth of Candida albicans in the gastrointestinal tract." [HPO:probinson] synonym: "Candida overgrowth syndrome" RELATED [] is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0005413 name: Increased alpha-globulin xref: UMLS:C1167806 "Increased alpha-globulin" is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0005415 name: Decreased number of CD8+ T cells alt_id: HP:0005481 def: "A decreased count of circulating CD8-positive, alpha-beta regulatory T cells." [HPO:probinson] is_a: HP:0005403 ! T lymphocytopenia property_value: HP:0040005 "A decreased count of circulating `CD8-positive, alpha-beta regulatory T cells` (CL:0000795)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005416 name: Decreased serum complement factor B synonym: "Decreased serum factor b" EXACT [] is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005419 name: Decreased T cell activation alt_id: HP:0005370 alt_id: HP:0005436 synonym: "Defective T cell activation" EXACT [] synonym: "Profound depletion of T4+ lymphocytes" EXACT [] xref: UMLS:C1970801 "Decreased T cell activation" is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005420 name: Recurrent gram-negative bacterial infections alt_id: HP:0005395 def: "Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents." [HPO:probinson] comment: Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane. is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005421 name: Decreased serum complement C3 alt_id: HP:0005408 synonym: "Decreased serum C3" EXACT [] xref: UMLS:C1837512 "Decreased serum C3" is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005422 name: Absence of CD8+ T cells is_a: HP:0005415 ! Decreased number of CD8+ T cells [Term] id: HP:0005423 name: Dysfunctional alternative complement pathway xref: UMLS:C1839458 "Dysfunctional alternative complement pathway" is_a: HP:0005482 ! Abnormality of the alternate complement pathway [Term] id: HP:0005424 name: Absent specific antibody response xref: UMLS:C1863246 "Absent specific antibody response" is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005425 name: Recurrent sinopulmonary infections def: "An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections." [HPO:probinson] synonym: "Chronic sinopulmonary infection" EXACT [] xref: UMLS:C1846546 "Recurrent sinopulmonary infections" is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0005428 name: Severe recurrent varicella xref: UMLS:C1833487 "VARICELLA, SEVERE RECURRENT" is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005429 name: Recurrent systemic pyogenic infections is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005430 name: Recurrent Neisserial infections alt_id: HP:0005377 alt_id: HP:0005378 def: "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [HPO:curators] synonym: "Episodes of neisserial infection" EXACT [] synonym: "Recurrent neisseria infections" EXACT [] xref: UMLS:C2169792 "recurrent Neisseria infections" is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0005432 name: Transient hypogammaglobulinemia of infancy def: "At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia." [HPO:probinson] synonym: "Newborn gammaglobulin deficiency" RELATED [] is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0005435 name: Impaired T cell function alt_id: HP:0002844 alt_id: HP:0005373 alt_id: HP:0005383 synonym: "T-cell dysfunction" EXACT [] xref: UMLS:C1860127 "Impaired T cell function" is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0005437 name: Recurrent infections in infancy and early childhood def: "Recurrent infections at an early age with improvement in later childhood." [HPO:probinson] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005439 name: Maxillozygomatic hypoplasia def: "Hypoplasia of the maxillozygomatic complex." [HPO:probinson] xref: UMLS:C1848908 "Maxillozygomatic hypoplasia" is_a: HP:0000327 ! Hypoplasia of the maxilla is_a: HP:0010669 ! Cheekbone underdevelopment [Term] id: HP:0005441 name: Sclerotic cranial sutures def: "An increased density in the cranial sutures following obliteration." [HPO:curators] xref: UMLS:C1854603 "Sclerotic cranial sutures" is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005442 name: Widely patent coronal suture def: "The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] xref: UMLS:C1856778 "Widely patent coronal suture" is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005445 name: Widened posterior fossa xref: UMLS:C1855889 "Widened posterior fossa" is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0005446 name: Obtuse angle of mandible def: "Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal." [HPO:probinson] comment: See pmid:17213440 Figure 1G for an example of an obtuse mandibular angle. is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0005449 name: Bridged sella turcica xref: UMLS:C1866959 "SELLA TURCICA, BRIDGED" is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005450 name: Calvarial osteosclerosis def: "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] xref: UMLS:C1855657 "Calvarial osteosclerosis" is_a: HP:0005464 ! Craniofacial osteosclerosis [Term] id: HP:0005451 name: Decreased cranial base ossification xref: UMLS:C1835442 "Decreased cranial base ossification" is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005452 name: Obliteration of frontal sinuses is_a: HP:0002687 ! Abnormality of the frontal sinuses [Term] id: HP:0005453 name: Absent/hypoplastic paranasal sinuses def: "Aplasia or hypoplasia of the paranasal sinuses." [HPO:probinson] subset: hposlim_core is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses property_value: HP:0040005 "Aplasia or hypoplasia of the `paranasal sinuses` (FMA:76587)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005456 name: Absent ethmoidal sinuses def: "Lack (aplasia) of the ethmoidal sinus." [HPO:probinson] is_a: HP:0002689 ! Absent paranasal sinuses property_value: HP:0040005 "Lack (aplasia) of the `ethmoidal sinus` (FMA:84115)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005458 name: Premature closure of fontanelles def: "Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point." [DDD:awilkie, HPO:probinson] synonym: "Obliterated fontanelles" EXACT [] xref: UMLS:C1864682 "Obliterated fontanelles" is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0005461 name: Craniofacial disproportion xref: UMLS:C1867114 "Craniofacial disproportion" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0005462 name: Calcification of falx cerebri def: "The presence of calcium deposition in the falx cerebri." [HPO:probinson] is_a: HP:0002514 ! Cerebral calcification is_a: HP:0010653 ! Abnormality of the falx cerebri property_value: HP:0040005 "The presence of `calcium deposition` (MPATH:36) in the `falx cerebri` (FMA:83967)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005463 name: Elongated sella turcica xref: UMLS:C1863311 "Elongated sella turcica" is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005464 name: Craniofacial osteosclerosis def: "Abnormally increased density of craniofacial bone tissue." [HPO:probinson] synonym: "Cranial sclerosis" RELATED [] is_a: HP:0011001 ! Increased bone mineral density is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0005465 name: Facial hyperostosis alt_id: HP:0008508 def: "Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton." [HPO:probinson] subset: hposlim_core synonym: "Hyperostosis of facial bones" EXACT [] is_a: HP:0004493 ! Craniofacial hyperostosis is_a: HP:0011821 ! Abnormality of facial skeleton property_value: HP:0040005 "Excessive growth (overgrowth) of the facial bones, that is of the `facial skeleton` (FMA:53673)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005466 name: Frontal bone hypoplasia alt_id: HP:0005493 def: "Underdevelopment of the frontal bone." [HPO:probinson] synonym: "Hypoplastic frontal bones" EXACT [] xref: UMLS:C1845147 "Hypoplastic frontal bones" is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0011218 ! Abnormal shape of the frontal region property_value: HP:0040005 "Underdevelopment of the `frontal bone` (FMA:52734)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005469 name: Flat occiput alt_id: HP:0000247 alt_id: HP:0000249 def: "Reduced convexity of the occiput (posterior part of skull)." [pmid:19125436] comment: Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone. subset: hposlim_core synonym: "Posterior flattening of the skull" EXACT [] xref: UMLS:C1837402 "Flat occiput" is_a: HP:0011217 ! Abnormal shape of the occiput property_value: HP:0040005 "Reduced convexity of the `occiput` (FMA:49187) (posterior part of skull)." xsd:string {xref="pmid:19125436"} [Term] id: HP:0005472 name: Orbital craniosynostosis is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0005473 name: Fusion of middle ear ossicles def: "Bony fusion of malleus, incus, and stapes." [HPO:probinson] is_a: HP:0004452 ! Abnormality of the middle ear ossicles is_a: HP:0100240 ! Synostosis of joints property_value: HP:0040005 "Bony fusion of `malleus` (FMA:52753), `incus` (FMA:52752), and `stapes` (FMA:52751)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005474 name: Decreased calvarial ossification alt_id: HP:0002701 alt_id: HP:0002702 alt_id: HP:0005454 alt_id: HP:0005471 def: "Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone)." [DDD:awilkie, HPO:probinson] synonym: "Poorly ossified calvaria" EXACT [] synonym: "Poorly ossified calvarium" EXACT [] synonym: "Soft calvaria" EXACT [] synonym: "Undermineralized calvarium" EXACT [] xref: UMLS:C1833762 "Soft calvaria" xref: UMLS:C1848658 "Poorly ossified calvaria" is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005476 name: Widely patent sagittal suture def: "The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed." [HPO:curators] xref: UMLS:C1856779 "Widely patent sagittal suture" is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0005477 name: Progressive sclerosis of skull base def: "Progressively increasing bone density of the skull base without significant changes in bony contour." [HPO:probinson] is_a: HP:0002694 ! Sclerosis of skull base [Term] id: HP:0005478 name: Prominent frontal sinuses xref: UMLS:C1969404 "Prominent frontal sinuses" is_a: HP:0002687 ! Abnormality of the frontal sinuses [Term] id: HP:0005479 name: IgE deficiency alt_id: HP:0002854 def: "An abnormally decreased level of immunoglobulin IgE in blood." [HPO:probinson] synonym: "Decreased IgE" EXACT [] is_a: HP:0004313 ! Hypogammaglobulinemia created_by: peter creation_date: 2008-03-26T08:03:00Z [Term] id: HP:0005482 name: Abnormality of the alternate complement pathway is_a: HP:0005339 ! Abnormality of complement system created_by: peter creation_date: 2008-03-26T08:12:00Z [Term] id: HP:0005483 name: Abnormality of the epiglottis def: "An abnormality of the epiglottis." [HPO:probinson] is_a: HP:0001600 ! Abnormality of the larynx property_value: HP:0040005 "An abnormality of the `epiglottis` (FMA:55130)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-26T08:25:00Z [Term] id: HP:0005484 name: Postnatal microcephaly alt_id: HP:0000241 alt_id: HP:0000259 alt_id: HP:0005499 def: "Microcephaly (HP:0000252) with onset in the postnatal period, that is, the head circumference is in the normal range at birth but falls behind normal values later in development." [HPO:probinson] synonym: "Deceleration of head growth" EXACT [] synonym: "Microcephaly, acquired" EXACT [] synonym: "Microcephaly, postnatal" EXACT [] synonym: "Postnatal deceleration of head circumference" EXACT [] xref: UMLS:C1862922 "Microcephaly, postnatal" is_a: HP:0000252 ! Microcephaly [Term] id: HP:0005486 name: Small fontanelle def: "A fontanelle that is small for age." [HPO:probinson, pmid:12825844] subset: hposlim_core xref: UMLS:C0456133 "Small fontanelles" is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0005487 name: Prominent metopic ridge alt_id: HP:0005488 alt_id: HP:0005751 def: "Vertical bony ridge positioned in the midline of the forehead." [HPO:probinson, pmid:19125436] comment: The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead. subset: hposlim_core synonym: "Prominent metopic suture" EXACT [] synonym: "Ridging of metopic suture" EXACT [] xref: UMLS:C1969876 "Prominent metopic suture" is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005490 name: Postnatal macrocephaly def: "The postnatal development of an abnormally large skull (macrocephaly)." [HPO:probinson] synonym: "Macrocephaly, postnatal" EXACT [] is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0005494 name: Premature posterior fontanelle closure xref: UMLS:C1839126 "Premature posterior fontanelle closure" is_a: HP:0005458 ! Premature closure of fontanelles [Term] id: HP:0005495 name: Metopic suture patent to nasal root def: "The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root." [HPO:probinson, pmid:11711818] comment: This feature is a characteristic of Schinzel-Giedion midface retraction syndrome. is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005498 name: Midline skin dimples over anterior/posterior fontanelles is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0005502 name: Increased red cell osmotic fragility synonym: "Increased erythrocyte osmotic fragility" EXACT [] synonym: "Increased red cell fragility," EXACT [] xref: UMLS:C1849478 "Increased red cell osmotic fragility" is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005505 name: Refractory anemia xref: MeSH:D000753 "Refractory Anemia" xref: UMLS:C0002893 "Anemia, Refractory" is_a: HP:0001903 ! Anemia [Term] id: HP:0005506 name: Chronic myelogenous leukemia alt_id: HP:0005544 def: "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." [HPO:probinson] synonym: "Chronic myelocytic leukemia" EXACT [] synonym: "Chronic myeloid leukemia" EXACT [] xref: DOID:8552 "chronic myeloid leukemia" xref: UMLS:C0023473 "Chronic myelogenous leukaemia" is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005507 name: Hemoglobin Barts def: "Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues." [HPO:probinson] comment: Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease. is_a: HP:0011902 ! Abnormal hemoglobin [Term] id: HP:0005508 name: Waldenstrom macroglobulinemia def: "A malignant monoclonal gammopathy characterized by a high level of an IgM monoclonal protein." [HPO:probinson] comment: Waldenstrom macroglobulinemia is a lymphoproliferative disease associated with the presence of an IgM monoclonal protein. xref: MeSH:D008258 "Waldenstrom macroglobulinemia" xref: UMLS:C0024419 "Waldenstrom Macroglobulinemia" is_a: HP:0005523 ! Lymphoproliferative disorder is_a: HP:0010701 ! Abnormal immunoglobulin level [Term] id: HP:0005510 name: Transient erythroblastopenia def: "A transient reduction in the number of erythroblasts in the circulation." [HPO:probinson] comment: An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. xref: UMLS:C0238478 "ERYTHROBLASTOPENIA, TRANSIENT" is_a: HP:0001903 ! Anemia property_value: HP:0040005 "A transient reduction in the number of `erythroblasts` (CL:0000765) in the circulation." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005511 name: Heinz body anemia def: "Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells." [HPO:probinson] xref: MeSH:D006366 "Heinz Bodies" xref: UMLS:C0272006 "Congenital Heinz body anaemia" is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005512 name: Impaired neutrophil killing of staphylococci is_a: HP:0011993 ! Impaired neutrophil bactericidal activity [Term] id: HP:0005513 name: Increased megakaryocyte count def: "Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow." [HPO:probinson] xref: UMLS:C1849757 "Increased megakaryocyte precursor cells" is_a: HP:0012143 ! Abnormality of cells of the megakaryocyte lineage property_value: HP:0040005 "Increased `megakaryocyte` (CL:0000556) number, i.e., of platelet precursor cells, present in the bone marrow." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005517 name: T-cell lymphoma/leukemia def: "A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas." [HPO:probinson] comment: T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1). is_a: HP:0012190 ! T-cell lymphoma [Term] id: HP:0005518 name: Erythrocyte macrocytosis alt_id: HP:0005536 def: "Larger than normal size of erythrocytes." [HPO:probinson] comment: Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. synonym: "Increased mean corpuscular volume" EXACT [] xref: UMLS:C0855791 "Increased mean corpuscular volume" is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005520 name: Chronic disseminated intravascular coagulation def: "A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced." [HPO:probinson] synonym: "Chronic consumption coagulopathy" EXACT [] synonym: "Compensated disseminated intravascular coagulation" EXACT [] xref: UMLS:C1862184 "Chronic consumption coagulopathy" is_a: HP:0005521 ! Disseminated intravascular coagulation property_value: HP:0040005 "A chronic form of `disseminated intravascular coagulation` (HP:0005521) in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005521 name: Disseminated intravascular coagulation def: "Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels." [HPO:probinson, pmid:10451465, pmid:11816725] comment: DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. xref: MeSH:D004211 "Disseminated Intravascular Coagulation" xref: UMLS:C0012739 "Disseminated Intravascular Coagulation" is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0005522 name: Pyridoxine-responsive sideroblastic anemia def: "A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment." [HPO:probinson] is_a: HP:0001924 ! Sideroblastic anemia property_value: HP:0040005 "A type of `sideroblastic anemia` (HP:0001924) that is alleviated by pyridoxine (vitamin B-6) treatment." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005523 name: Lymphoproliferative disorder synonym: "LYMPHOPROLIFERATIVE DISORDERS" RELATED [HPO:skoehler] xref: MeSH:D008232 "Lymphoproliferative Disorders" xref: UMLS:C0024314 "Disorder, Lymphoproliferative" is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0005524 name: Macrocytic hemolytic disease is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005525 name: Spontaneous hemolytic crises is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005526 name: Lymphoid leukemia def: "Leukemia associated with hyperplasia of the lymphoid tissues and increased numbers of circulating malignant lymphocytes and lymphoblasts." [HPO:probinson, MeSH:D007945] xref: MeSH:D007945 "Leukemia, Lymphoid" xref: UMLS:C0023448 "Lymphoid leukaemia" is_a: HP:0001909 ! Leukemia [Term] id: HP:0005527 name: Reduced kininogen activity alt_id: HP:0004867 alt_id: HP:0005500 alt_id: HP:0005530 alt_id: HP:0005538 def: "Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade." [DDD:wouwehand, HPO:probinson] comment: Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor. synonym: "Fitzgerald factor deficiency" EXACT [] synonym: "Kininogen deficiency" EXACT [] synonym: "Williams factor deficiency" EXACT [] synonym: "Williams-Fitzgerald-Flaujeac factor deficiency" EXACT [] xref: UMLS:C1537501 "High molecular weight kininogen deficiency" is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0005528 name: Bone marrow hypocellularity alt_id: HP:0005529 alt_id: HP:0100549 def: "A reduced number of hematopoietic cells present in the bone marrow." [DDD:wouwehand, HPO:probinson] synonym: "Bone marrow failure" EXACT [] synonym: "Bone marrow hypoplasia" EXACT [] synonym: "Hypoplastic bone marrow" EXACT [] xref: UMLS:C1855710 "Hypoplastic bone marrow" is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0005531 name: Biphenotypic acute leukaemia def: "A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias." [HPO:probinson, pmid:9107085] synonym: "Acute biphenotypic leukemia" EXACT [] synonym: "Myeloid/lymphoid leukemia" EXACT [] xref: MeSH:D015456 "Leukemia, Biphenotypic, Acute" is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0005532 name: Macrocytic dyserythropoietic anemia is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0005534 name: Transient myeloproliferative syndrome xref: UMLS:C1834582 "MYELOPROLIFERATIVE SYNDROME, TRANSIENT" is_a: HP:0005547 ! Myeloproliferative disorder [Term] id: HP:0005535 name: Exercise-induced hemolysis def: "A form of hemolytic anemia that can be triggered by exertion." [HPO:probinson] is_a: HP:0001878 ! Hemolytic anemia property_value: HP:0040005 "A form of `hemolytic anemia` (HP:0001878) that can be triggered by exertion." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005537 name: Decreased mean platelet volume alt_id: HP:0001938 def: "Average platelet volume below the lower limit of the normal reference interval." [DDD:wouwehand] comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). synonym: "Small platelet size" EXACT [] synonym: "Small platelets" EXACT [] synonym: "Small platelets size" EXACT [] xref: UMLS:C1148413 "Small platelets" is_a: HP:0011876 ! Abnormal platelet volume [Term] id: HP:0005539 name: T-cell chronic lymphocytic lymphoma/leukemia is_a: HP:0005526 ! Lymphoid leukemia [Term] id: HP:0005540 name: Red blood cell keratocytosis def: "A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns." [HPO:probinson] comment: Kerato- is derived from the Greek word for horn. synonym: "Distorted red blood cells resembling keratocytes" EXACT [] is_a: HP:0004447 ! Poikilocytosis property_value: HP:0040005 "A form of `poikilocytosis` (HP:0004447) in which the abnormally shaped erythrocytes have notches that results in projections that look like horns." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005541 name: Congenital agranulocytosis def: "Congenital onset of a marked decrease in the number of granulocytes." [HPO:probinson] xref: UMLS:C0340970 "Severe congenital neutropenia" is_a: HP:0012234 ! Agranulocytosis property_value: HP:0040005 "Congenital onset of a marked decrease in the number of `granulocytes` (CL:0000094)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005542 name: Prolonged whole-blood clotting time alt_id: HP:0003229 def: "An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot." [HPO:probinson] synonym: "Prolonged clotting time" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005543 name: Reduced protein C activity def: "An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va." [HPO:probinson] comment: Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis. synonym: "Protein C deficiency" EXACT [] xref: MeSH:D020151 "Protein C deficiency" xref: UMLS:C0398625 "Protein C Deficiency" is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: HP:0040005 "An `abnormality of coagulation` (HP:0001928) related to a `decreased concentration` (PATO:0001163) of `vitamin K-dependent protein C` (PR:000013261). Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005546 name: Increased red cell osmotic resistance xref: UMLS:C1858628 "Increased red cell osmotic resistance" is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005547 name: Myeloproliferative disorder def: "Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential." [HPO:probinson] comment: There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis. xref: MeSH:D009196 "Myeloproliferative Disorders" xref: UMLS:C0027022 "Disorder, Myeloproliferative" is_a: HP:0001909 ! Leukemia [Term] id: HP:0005548 name: Megakaryocytopenia def: "A reduced count of megakaryocytes." [HPO:probinson] comment: Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. xref: UMLS:C1858312 "Megakaryocytopenia" is_a: HP:0012143 ! Abnormality of cells of the megakaryocyte lineage property_value: HP:0040005 "A `reduced count` (PATO:0002001) of `megakaryocytes` (CL:0000556)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005549 name: Congenital neutropenia def: "A form of neutropenia with congenital onset." [HPO:probinson] xref: UMLS:C0340970 "Severe congenital neutropenia" is_a: HP:0001875 ! Neutropenia property_value: HP:0040005 "A form of `neutropenia` (HP:0001875) with congenital onset." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005550 name: Chronic lymphatic leukemia alt_id: HP:0006734 alt_id: HP:0006760 def: "A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias." [HPO:curators] synonym: "Chronic lymphocytic leukemia" EXACT [] is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005556 name: Abnormality of the metopic suture def: "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"." [HPO:curators] is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0011329 ! Abnormality of cranial sutures created_by: peter creation_date: 2008-03-27T10:04:00Z [Term] id: HP:0005557 name: Abnormality of the zygomatic arch def: "An abnormality of the zygomatic arch, also known as the cheek bone." [HPO:probinson] comment: The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone. is_a: HP:0000309 ! Abnormality of the midface property_value: HP:0040005 "An abnormality of the `zygomatic arch` (FMA:53120), also known as the cheek bone." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-27T10:20:00Z [Term] id: HP:0005558 name: Chronic leukemia xref: UMLS:C1279296 "Chronic leukaemia" is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0005559 name: Abnormality of the kinin-kallikrein system is_a: HP:0010876 ! Abnormality of circulating protein level created_by: peter creation_date: 2008-03-27T10:34:00Z [Term] id: HP:0005560 name: Imbalanced hemoglobin synthesis def: "Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia." [HPO:probinson] comment: While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography. xref: MeSH:D013789 "Thalassemia" xref: UMLS:C0039730 "Thalassaemia" is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2008-03-27T10:44:00Z [Term] id: HP:0005561 name: Abnormality of bone marrow cell morphology def: "An anomaly of the form or number of cells in the bone marrow." [DDD:wouwehand, HPO:probinson] synonym: "Anomaly of the bone marrow cells" EXACT [] synonym: "Bone marrow disease" RELATED [] is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues property_value: HP:0040005 "An anomaly of the form or number of cells in the `bone marrow` (FMA:9608)." xsd:string {xref="DDD:wouwehand", xref="HPO:probinson"} created_by: peter creation_date: 2008-03-27T10:46:00Z [Term] id: HP:0005562 name: Multiple renal cysts def: "The presence of many cysts in the kidney." [Eurenomics:ewuehl] xref: UMLS:C0431718 "Multiple renal cysts" is_a: HP:0000107 ! Renal cyst [Term] id: HP:0005563 name: Decreased numbers of nephrons def: "A reduction in the count of nephrons per kidney." [Eurenomics:ewuehl] synonym: "Decreased numbers of glomeruli" RELATED [] synonym: "Oligonephronia" EXACT [] is_a: HP:0012575 ! Abnormality of the nephron property_value: HP:0040005 "A reduction in the count of `nephrons` (FMA:17640) per kidney." xsd:string {xref="Eurenomics:ewuehl"} [Term] id: HP:0005564 name: Absence of renal corticomedullary differentiation alt_id: HP:0005581 def: "A lack of differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson] synonym: "Absent renal corticomedullary differentiation" EXACT [] synonym: "Loss of corticomedullary differentiation" EXACT [] is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation [Term] id: HP:0005565 name: Reduced renal corticomedullary differentiation alt_id: HP:0005573 def: "Reduced differentiation between renal cortex and medulla on diagnostic imaging." [HPO:probinson] synonym: "Loss of definition of corticomedullary differentiation" EXACT [] is_a: HP:0005932 ! Abnormal renal corticomedullary differentiation [Term] id: HP:0005567 name: Renal magnesium wasting def: "High urine magnesium in the presence of hypomagnesemia." [Eurenomics:ewuehl] xref: UMLS:C1835171 "Renal magnesium wasting" is_a: HP:0012607 ! Abnormal urine magnesium concentration [Term] id: HP:0005571 name: Increased renal tubular phosphate reabsorption synonym: "Increased percent tubular reabsorption of phosphorus" EXACT [] xref: UMLS:C1968898 "Increased renal tubular phosphate reabsorption" is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005572 name: Decreased renal tubular phosphate excretion xref: UMLS:C1968899 "Decreased renal tubular phosphate excretion" is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0005574 name: Non-acidotic proximal tubulopathy def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss." [HPO:probinson] xref: UMLS:C1968770 "Non-acidotic proximal tubulopathy" is_a: HP:0000114 ! Proximal tubulopathy [Term] id: HP:0005575 name: Hemolytic-uremic syndrome synonym: "Hemolytic uremic syndrome" EXACT [] xref: MeSH:D006463 "Hemolytic-Uremic Syndrome" xref: UMLS:C0019061 "HAEMOLYTIC-URAEMIC SYNDROME" is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0005576 name: Tubulointerstitial fibrosis alt_id: HP:0000129 alt_id: HP:0004714 alt_id: HP:0008171 def: "Fibrosis that involves the tubules and interstitial tissue of the kidney." [HPO:probinson, pmid:19144691] comment: This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. synonym: "Renal interstitial fibrosis" EXACT [] xref: UMLS:C1969372 "Tubulointerstitial fibrosis" is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0005579 name: Impaired reabsorption of chloride is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005580 name: Duplication of renal pelvis def: "A duplication of the renal pelvis." [HPO:probinson] is_a: HP:0000075 ! Renal duplication is_a: HP:0010944 ! Abnormality of the renal pelvis property_value: HP:0040005 "A duplication of the `renal pelvis` (FMA:15575)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005583 name: Tubular basement membrane disintegration alt_id: HP:0005577 def: "DIsruption and breaking up of the basement membrane of the tubules of the kidney." [HPO:probinson] comment: Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction. synonym: "Disintegration of the tubular basement membrane" EXACT [] xref: UMLS:C1968618 "Tubular basement membrane disintegration" is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0005584 name: Renal cell carcinoma alt_id: HP:0006720 def: "A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule." [HPO:probinson] comment: Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma. synonym: "Hypernephroma" EXACT [] synonym: "Renal carcinoma" EXACT [] xref: MeSH:D002292 "Carcinoma, Renal Cell" xref: UMLS:C1378703 "Renal carcinoma" is_a: HP:0009726 ! Renal neoplasm property_value: HP:0040005 "A type of `carcinoma` (MPATH:549) of the `kidney` (FMA:7203) with origin in the epithelium of the `proximal convoluted renal tubule` (FMA:17693)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005585 name: Spotty hyperpigmentation synonym: "Patchy depigmentation" EXACT [] synonym: "Patchy hyperpigmentation" EXACT [] xref: UMLS:C1859428 "Spotty hyperpigmentation" is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0005586 name: Hyperpigmentation in sun-exposed areas synonym: "Hyperpigmentation of exposed areas" EXACT [] is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0005587 name: Profuse pigmented skin lesions xref: UMLS:C0262595 "Pigmented skin lesion" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0005588 name: Patchy palmoplantar keratoderma def: "A focal type of palmoplantar keratoderma in whichonly certain areas of the palms and soles are affected." [HPO:probinson] comment: Patchy palmoplantar keratoderma may develop at sites of recurrent friction. synonym: "Palmoplantar keratoderma, patchy" EXACT [] is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0005590 name: Spotty hypopigmentation synonym: "Patchy hypopigmentation" EXACT [] xref: UMLS:C1859427 "Spotty hypopigmentation" is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005592 name: Giant melanosomes in melanocytes alt_id: HP:0003342 def: "The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes." [HPO:probinson] comment: Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin. synonym: "Macromelanosomes" EXACT [] is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0005593 name: Macular hypopigmented whorls, streaks, and patches is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005595 name: Generalized hyperkeratosis synonym: "Hyperkeratosis, generalized" EXACT [] is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0005597 name: Congenital alopecia totalis def: "Loss of all scalp hair with congenital onset." [HPO:probinson] xref: UMLS:C1863091 "Congenital alopecia totalis" is_a: HP:0007418 ! Alopecia totalis [Term] id: HP:0005598 name: Facial telangiectasia in butterfly midface distribution def: "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [HPO:curators] synonym: "Butterfly facial telangiectasia" EXACT [] is_a: HP:0007380 ! Facial telangiectasia [Term] id: HP:0005599 name: Hypopigmentation of hair subset: hposlim_core synonym: "Hair hypopigmentation" EXACT [] xref: UMLS:C1855784 "Hair hypopigmentation" is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0005600 name: Congenital giant melanocytic nevus alt_id: HP:0005604 def: "The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child." [HPO:probinson, pmid:21139903] comment: Between 4% and 6% of these lesions will develop into a malignant melanoma. synonym: "Giant pigmented hairy nevus" EXACT [] synonym: "Giant pigmented nevus" EXACT [] is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005602 name: Progressive vitiligo xref: UMLS:C1855071 "Progressive vitiligo" is_a: HP:0001045 ! Vitiligo [Term] id: HP:0005603 name: Numerous congenital melanocytic nevi xref: UMLS:C1855307 "Numerous congenital melanocytic nevi" is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005605 name: Large cafe-au-lait macules with irregular margins def: "Large hypermelanotic macules with jagged borders." [HPO:probinson] comment: This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California. is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0005606 name: Hyperpigmented nevi and streak is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0005607 name: Abnormality of the tracheobronchial system alt_id: HP:0005940 synonym: "Tracheobronchial anomalies" EXACT [] is_a: HP:0002087 ! Abnormality of the upper respiratory tract created_by: peter creation_date: 2008-03-28T09:03:00Z [Term] id: HP:0005608 name: Bilobate gallbladder def: "The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium." [HPO:probinson, pmid:14571173, pmid:16553121, pmid:21170223] comment: During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders. synonym: "Bilobed gallbladder" EXACT [] synonym: "Double gallbladder" EXACT [] synonym: "Gallbladder duplication" EXACT [] xref: UMLS:C1846422 "Bilobate gallbladder" is_a: HP:0012437 ! Abnormal gallbladder morphology property_value: HP:0040005 "The presence of a `bilobed` (PATO:0002214) `gallbladder` (FMA:7202), related to a duplication of the gallbladder primordium." xsd:string {xref="HPO:probinson", xref="pmid:14571173", xref="pmid:16553121", xref="pmid:21170223"} [Term] id: HP:0005609 name: Gallbladder dysfunction xref: UMLS:C0232769 "Gallbladder dysfunction" is_a: HP:0012438 ! Abnormal gallbladder physiology [Term] id: HP:0005612 name: Arthrogryposis-like hand anomaly is_a: HP:0005684 ! Distal arthrogryposis [Term] id: HP:0005613 name: Aplasia/hypoplasia of the femur alt_id: HP:0006396 alt_id: HP:0006425 def: "Absence or underdevelopment of the femur." [HPO:probinson] synonym: "Hypoplastic to absent femora" EXACT [] synonym: "Hypoplastic/aplastic femora" EXACT [] is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs property_value: HP:0040005 "Absence or underdevelopment of the `femur` (FMA:9611)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005616 name: Accelerated skeletal maturation alt_id: HP:0002649 alt_id: HP:0005854 def: "An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] synonym: "Advanced bone age" EXACT [] synonym: "Early bone maturation" EXACT [] xref: UMLS:C0545053 "Advanced bone age" is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0005617 name: Bilateral camptodactyly is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0005619 name: Thoracolumbar kyphosis alt_id: HP:0003439 def: "Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance." [HPO:probinson] synonym: "Thoracolumbar gibbus" EXACT [] synonym: "Thoracolumbar gibbus deformity" EXACT [] xref: UMLS:C1855418 "Thoracolumbar gibbus deformity" is_a: HP:0002942 ! Thoracic kyphosis is_a: HP:0100712 ! Abnormality of the lumbar spine [Term] id: HP:0005620 name: Hypermobility of interphalangeal joints def: "The ability of the interphalangeal joints to move beyond their normal range of motion." [HPO:curators] is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005621 name: Trapezoidal shaped vertebral bodies is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005622 name: Broad long bones def: "Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately." [HPO:probinson] synonym: "Wide long bones" EXACT [] synonym: "Widened long bones" EXACT [] is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0005623 name: Absent ossification of calvaria def: "Absent ossification of the calvaria (vault of the skull)." [HPO:probinson] synonym: "Absent ossification of skull vault" EXACT [] is_a: HP:0005474 ! Decreased calvarial ossification [Term] id: HP:0005625 name: Osteoporosis of vertebrae def: "Osteoporosis affecting predominantly the vertebrae." [HPO:curators] is_a: HP:0000939 ! Osteoporosis is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0005626 name: Posterior fusion of lumbosacral vertebrae def: "Bony fusion of the posterior part of the L5 vertebral body with the sacrum." [pmid:5443339] is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0005627 name: Type D brachydactyly def: "This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes." [HPO:probinson] synonym: "Brachydactyly type D" EXACT [] is_a: HP:0001156 ! Brachydactyly syndrome [Term] id: HP:0005632 name: Absent forearm synonym: "ABSENT FOREARMS" RELATED [HPO:skoehler] xref: UMLS:C1408532 "absent forearm" is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0005638 name: Decreased anterioposterior diameter of lumbar vertebral bodies is_a: HP:0008473 ! Narrow anterio-posterior vertebral body diameter [Term] id: HP:0005639 name: Hyperextensible hand joints def: "The ability of the joints of the hand to move beyond their normal range of motion." [HPO:curators] xref: UMLS:C1856877 "Hyperextensible hand joints" is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005640 name: Abnormal vertebral segmentation and fusion is_a: HP:0002948 ! Vertebral fusion is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0005643 name: Short 3rd toe def: "Underdevelopment (hypoplasia) of the third toe." [HPO:probinson] synonym: "Brachydactyly of third toes" EXACT [] synonym: "Short third toe" EXACT [] is_a: HP:0001831 ! Short toe property_value: HP:0040005 "Underdevelopment (hypoplasia) of the `third toe` (FMA:25051)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005645 name: Intervertebral disk calcification def: "The presence of abnormal calcium deposition of the intervertebral disk." [HPO:probinson] subset: hposlim_core synonym: "Multiple intervertebral disk calcifications" EXACT [] xref: SNOMEDCT:240211000 "Intervertebral disk calcification" xref: UMLS:C0410607 "Intervertebral disk calcification" is_a: HP:0005108 ! Abnormality of the intervertebral disk is_a: HP:0010766 ! Ectopic calcification property_value: HP:0040005 "The presence of abnormal `calcium deposition` (MPATH:36) of the `intervertebral disk` (FMA:10446)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005648 name: Bilateral ulnar hypoplasia def: "Underdevelopment of the ulna on both sides." [HPO:probinson] comment: May be a symmetric finding. is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005650 name: Cutaneous syndactyly between fingers 2 and 5 def: "A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints." [HPO:probinson] is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0005652 name: Cortical sclerosis def: "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [HPO:probinson] is_a: HP:0003103 ! Abnormal cortical bone morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005653 name: Moderate generalized osteoporosis def: "Moderate osteoporosis." [HPO:curators] is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005655 name: Multiple digital exostoses def: "Multiple exostoses originating in the fingers and toes." [HPO:probinson] comment: This feature is characteristic of metachondromatosis (MIM:156250). is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005656 name: Positional foot deformity def: "A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies." [HPO:probinson] is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0005659 name: Thoracic kyphoscoliosis is_a: HP:0002943 ! Thoracic scoliosis [Term] id: HP:0005661 name: Salmonella osteomyelitis xref: UMLS:C0152491 "Salmonella osteomyelitis" is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005665 name: Massively thickened long bone cortices def: "Extreme thickening of the cortex of long bones." [HPO:curators] is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0005667 name: Os odontoideum def: "Separation of the odontoid process from the body of the axis." [HPO:probinson, pmid:22224150] xref: UMLS:C1860795 "Atlanto-axial instability" is_a: HP:0003467 ! Atlantoaxial instability [Term] id: HP:0005671 name: Bilateral intracranial calcifications def: "Deposition of calcium salts on both sides of the brain." [HPO:probinson] is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005676 name: Rudimentary postaxial polydactyly of hands is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0005678 name: Anterior atlanto-occipital dislocation is_a: HP:0003414 ! Atlantoaxial dislocation [Term] id: HP:0005679 name: Dupuytren contracture def: "An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints." [HPO:probinson] comment: A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers. xref: MeSH:D004387 "Dupuytren Contracture" xref: UMLS:C0013312 "Dupuytren's Contracture" is_a: HP:0009473 ! Joint contracture of the hand [Term] id: HP:0005680 name: Tongue-like lumbar vertebral deformities is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005681 name: Juvenile rheumatoid arthritis synonym: "Rheumatoid arthritis, juvenile" EXACT [] xref: MeSH:D001171 "Arthritis, Juvenile Rheumatoid" is_a: HP:0001370 ! Rheumatoid arthritis [Term] id: HP:0005682 name: Talocalcaneal synostosis is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0005684 name: Distal arthrogryposis def: "A form of arthrogryposis primarily affecting the hands and the feet." [HPO:probinson] xref: UMLS:C0265213 "Distal arthrogryposis" is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0005686 name: Patchy osteosclerosis def: "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] synonym: "Patchy increase of bone mineral density" EXACT [HPO:curators] xref: UMLS:C1855845 "Patchy osteosclerosis" is_a: HP:0010658 ! Patchy changes of bone mineral density is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005687 name: Deformed humeral heads is_a: HP:0003871 ! Deformed humerus [Term] id: HP:0005688 name: Dysplastic distal thumb phalanges with a central hole is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005689 name: Dermatoglyphic ridges abnormal is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005692 name: Joint hyperflexibility is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005694 name: Partial fusion of proximal row of carpal bones is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0005696 name: Postaxial polydactyly type A def: "Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal." [HPO:probinson] is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0005700 name: Increased bone density with cystic changes is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005701 name: Multiple enchondromatosis is_a: HP:0002763 ! Abnormal cartilage morphology is_a: HP:0030038 ! Enchondroma [Term] id: HP:0005707 name: Bilateral triphalangeal thumbs def: "A bilateral form of triphalangeal thumb." [HPO:probinson] synonym: "Bilateral digitalized thumb" EXACT [] xref: UMLS:C1835605 "Digitalized thumb" is_a: HP:0001199 ! Triphalangeal thumb property_value: HP:0040005 "A bilateral form of `triphalangeal thumb` (HP:0001199)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005709 name: 2-3 toe cutaneous syndactyly is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005715 name: Flattened knee epiphyses is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0005716 name: Lethal skeletal dysplasia alt_id: HP:0008898 synonym: "Lethal dwarfism identifiable at birth" EXACT [] is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005720 name: Shortening of all metacarpals def: "Abnormal reduction in length of all metacarpal bones." [HPO:probinson] is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0005722 name: Hyperextensible thumb def: "The ability of the thumb joints to move beyond their normal range of motion." [HPO:curators] is_a: HP:0005639 ! Hyperextensible hand joints [Term] id: HP:0005723 name: Shoe-shaped sella turcica is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005725 name: Nonopposable triphalangeal thumb def: "A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand." [HPO:probinson] xref: UMLS:C1860806 "TRIPHALANGEAL THUMB, NONOPPOSABLE" is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005726 name: Thumbs hypoplastic with bulbous tips is_a: HP:0009778 ! Short thumb [Term] id: HP:0005731 name: Cortical irregularity def: "An abnormal irregularity of cortical bone." [HPO:curators] is_a: HP:0003103 ! Abnormal cortical bone morphology [Term] id: HP:0005733 name: Spinal stenosis with reduced interpedicular distance alt_id: HP:0004597 def: "An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging)." [HPO:probinson] comment: The pedicles are two short, thick processes that connect the body of the vertebrae to the arch. synonym: "Spinal stenosis due to short pedicles" EXACT [] is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0005736 name: Short tibia alt_id: HP:0002993 def: "Underdevelopment (reduced size) of the tibia." [HPO:probinson] synonym: "Hypoplasia of the tibia" EXACT [] synonym: "Hypoplastic tibia" EXACT [] synonym: "Short tibiae" EXACT [] xref: UMLS:C1850259 "Short tibiae" is_a: HP:0003026 ! Short long bones is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs [Term] id: HP:0005739 name: Posterior subluxation of radial head def: "Partial dislocation of the head of the radius in the posterior direction." [HPO:curators] is_a: HP:0003048 ! Radial head subluxation [Term] id: HP:0005743 name: Avascular necrosis of the capital femoral epiphysis alt_id: HP:0003280 alt_id: HP:0006448 alt_id: HP:0010887 def: "Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature." [HPO:probinson] comment: In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh. synonym: "Coxa plana" RELATED [] synonym: "Legg-Calve-Perthes syndrome" EXACT [] synonym: "Legg-Perthes disease" EXACT [] synonym: "Morbus Legg-Calve-Perthes" EXACT [] synonym: "Osteochondrosis of the femoral head" EXACT [] synonym: "Perthes-like femoral head changes" EXACT [] xref: ICD-10:M91.1 xref: MeSH:D007873 "Legg-Calve-Perthes Disease" is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0100323 ! Juvenile aseptic necrosis property_value: HP:0040005 "Avascular necrosis of the `proximal epiphysis of the femur` (FMA:32841) occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005744 name: Generalized osteoporosis with pathologic fractures is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005745 name: Congenital foot contractures is_a: HP:0002803 ! Congenital contracture is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0005746 name: Osteosclerosis of the base of the skull def: "An increase in bone density affecting the basicranium (base of the skull)." [HPO:probinson] comment: Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull. synonym: "Osteosclerosis of the skull base" EXACT [] is_a: HP:0005464 ! Craniofacial osteosclerosis [Term] id: HP:0005747 name: Easily subluxated first metacarpophalangeal joints is_a: HP:0004294 ! Subluxation of metacarpal phalangeal joints [Term] id: HP:0005750 name: Contractures of the joints of the lower limbs synonym: "Contractures, lower limbs" EXACT [] is_a: HP:0003121 ! Limb joint contracture [Term] id: HP:0005752 name: Flattened moderately deformed vertebrae is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005756 name: Neonatal epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period." [HPO:probinson] synonym: "Epiphyseal stippling in neonates" EXACT [] is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0005758 name: Basilar impression def: "Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum." [HPO:probinson, pmid:10084535] is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0005759 name: Small flat posterior fossa def: "An abnormally small and flat configuration of the posterior cranial fossa." [HPO:curators] is_a: HP:0040010 ! Small posterior fossa is_a: HP:0040011 ! Flat posterior fossa [Term] id: HP:0005764 name: Polyarticular arthritis xref: UMLS:C0694562 "Polyarticular arthritis" is_a: HP:0005195 ! Polyarticular arthropathy [Term] id: HP:0005765 name: Sacral meningocele xref: UMLS:C0521556 "Sacral meningocele" is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0005766 name: Disproportionate shortening of the tibia is_a: HP:0005736 ! Short tibia [Term] id: HP:0005767 name: 1-2 toe complete cutaneous syndactyly is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005768 name: 2-4 toe cutaneous syndactyly def: "A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4." [HPO:probinson] synonym: "Soft tissue syndactyly of toes 2, 3, and 4" EXACT [] is_a: HP:0010621 ! Cutaneous syndactyly of toes [Term] id: HP:0005769 name: Fifth finger distal phalanx clinodactyly def: "Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger)." [HPO:probinson] is_a: HP:0004209 ! Clinodactyly of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger property_value: HP:0040005 "Bending or curvature of the `distal phalanx of little finger` (FMA:23949) in the radial direction (i.e., towards the 4th finger)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005772 name: Aplasia/Hypoplasia of the tibia def: "Absence or underdevelopment of the tibia." [HPO:curators] synonym: "Absent/hypoplastic tibia" EXACT [] synonym: "Aplastic/hypoplastic tibia" EXACT [] is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs [Term] id: HP:0005773 name: Short forearm def: "Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm." [HPO:probinson] is_a: HP:0009821 ! Forearm undergrowth [Term] id: HP:0005775 name: Multiple skeletal anomalies is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005776 name: Carpal bone malsegmentation is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0005780 name: Absent fourth finger distal interphalangeal crease def: "Absence of the distal interphalangeal flexion creases of the fourth finger." [HPO:probinson] synonym: "No fourth finger distal interphalangeal crease" EXACT [] is_a: HP:0001032 ! Absent distal interphalangeal creases [Term] id: HP:0005781 name: Contractures of the large joints is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0005787 name: Lumbar platyspondyly alt_id: HP:0004588 def: "A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine." [HPO:probinson] is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005788 name: Abnormal cervical myelogram is_a: HP:0002318 ! Cervical myelopathy [Term] id: HP:0005789 name: Generalized osteosclerosis alt_id: HP:0005805 def: "An abnormal increase of bone mineral density with generalized involvement of the skeleton." [HPO:probinson] synonym: "Diffuse, symmetrical osteosclerosis" EXACT [] synonym: "Osteosclerosis, diffuse symmetrical" EXACT [] is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005790 name: Short mandibular condyles is_a: HP:0003778 ! Short mandibular rami [Term] id: HP:0005791 name: Cortical thickening of long bone diaphyses def: "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators] is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0005792 name: Short humerus alt_id: HP:0002989 alt_id: HP:0003014 alt_id: HP:0003064 alt_id: HP:0006419 alt_id: HP:0006464 alt_id: HP:0006468 def: "Underdevelopment of the humerus." [HPO:probinson] subset: hposlim_core synonym: "Humeral hypoplasia" EXACT [] synonym: "Humeral shortening" EXACT [] synonym: "Hypoplastic humerus" EXACT [] synonym: "Short humeri" EXACT [] synonym: "Short upper arms" EXACT [] xref: SNOMEDCT:93264003 "Congenital hypoplasia of humerus" xref: UMLS:C1832117 "Short humeri" xref: UMLS:C1846471 "Hypoplastic humerus" xref: UMLS:C1865364 "Bilateral humeral hypoplasia" is_a: HP:0006507 ! Aplasia/hypoplasia of the humerus [Term] id: HP:0005793 name: Shortening of all distal phalanges of the toes def: "Abnormally short distal phalanx of toe of all toes." [HPO:probinson] is_a: HP:0001857 ! Short distal phalanx of toe property_value: HP:0040005 "Abnormally short `distal phalanx of toe` (FMA:75830) of all toes." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005794 name: Arterial disease of legs is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005798 name: Posterior radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction." [HPO:probinson] is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005802 name: Coalescence of tarsal bones xref: UMLS:C0039316 "Tarsal Bones" is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0005807 name: Absent distal phalanges def: "Aplasia (absence) of the distal phalanges." [HPO:curators] xref: UMLS:C1861339 "Absent distal phalanges" is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand [Term] id: HP:0005815 name: Supernumerary ribs alt_id: HP:0000901 def: "The presence of more than 12 rib pairs." [HPO:probinson] subset: hposlim_core synonym: "Extra ribs" EXACT [] xref: SNOMEDCT:205460009 "Accessory rib" xref: UMLS:C0345397 "Supernumerary ribs" is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0005817 name: Postaxial polysyndactyly of foot def: "Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe)." [HPO:probinson] is_a: HP:0001830 ! Postaxial foot polydactyly [Term] id: HP:0005819 name: Short middle phalanx of finger alt_id: HP:0001208 alt_id: HP:0006068 alt_id: HP:0006081 alt_id: HP:0010240 def: "Short (hypoplastic) middle phalanx of finger, affecting one or more fingers." [HPO:probinson] synonym: "Brachymesophalangy" EXACT [] synonym: "Hypoplasia of the middle phalanges of the hand" EXACT [] synonym: "Hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic middle phalanx" EXACT [] synonym: "Midphalangeal hypoplasia" EXACT [] synonym: "Short middle phalanges" EXACT [] xref: UMLS:C1834061 "Midphalangeal hypoplasia" is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand property_value: HP:0040005 "Short (hypoplastic) `middle phalanx of finger` (FMA:75817), affecting one or more fingers." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005820 name: Superior rib anomalies is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0005824 name: Clinodactyly of the 2nd toe def: "Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Clinodactyly of second toes" EXACT [] is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010326 ! Deviation of the 2nd toe property_value: HP:0040005 "Bending or curvature of a `second toe` (FMA:25048) in the tibial direction (i.e., towards the big toe)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005825 name: Mixed sclerosis of humeral metaphyses is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0005828 name: Transient pulmonary infiltrates is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0005829 name: Maldevelopment of radioulnar joint is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0005830 name: Flexion contracture of toe alt_id: HP:0001860 alt_id: HP:0008128 alt_id: HP:0008367 alt_id: HP:0200027 def: "One or more bent (flexed) toe joints that cannot be straightened actively or passively." [HPO:probinson] synonym: "Contractures involving the toes" EXACT [] synonym: "Contractures of the toes" EXACT [] synonym: "Toe contractures" EXACT [] xref: UMLS:C1406835 "Toe contractures" is_a: HP:0001780 ! Abnormality of toe is_a: HP:0008366 ! Contractures involving the joints of the feet is_a: HP:0030044 ! Flexion contracture of digit is_a: HP:0100492 ! Joint contractures involving the joints of the feet [Term] id: HP:0005831 name: Type B brachydactyly xref: UMLS:C1862112 "BRACHYDACTYLY, TYPE B" is_a: HP:0001156 ! Brachydactyly syndrome [Term] id: HP:0005832 name: Dysharmonic delayed bone age alt_id: HP:0005840 def: "A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson] is_a: HP:0002750 ! Delayed skeletal maturation is_a: HP:0200000 ! Dysharmonic bone age [Term] id: HP:0005833 name: Joint swelling onset late infancy is_a: HP:0001386 ! Joint swelling [Term] id: HP:0005834 name: obsolete Thumbs hypo/aplastic is_obsolete: true replaced_by: HP:0009658 [Term] id: HP:0005837 name: Joint dislocations in young adult is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0005841 name: Calcific stippling of infantile cartilaginous skeleton is_a: HP:0003336 ! Abnormal enchondral ossification [Term] id: HP:0005844 name: Rounded middle phalanx of finger def: "An abnormally round shape of the middle phalanx of the finger." [HPO:probinson] is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand [Term] id: HP:0005848 name: Bifid thumb distal phalanx def: "Cleft (split into two parts) distal phalanx of thumb." [HPO:probinson] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb property_value: HP:0040005 "Cleft (split into two parts) `distal phalanx of thumb` (FMA:23945)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005849 name: Diffuse cerebral calcification def: "Generalized deposition of calcium salts within the brain." [HPO:probinson] is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005850 name: Congenital talipes calcaneovalgus xref: UMLS:C0152237 "Congenital talipes calcaneovalgus" is_a: HP:0001884 ! Talipes calcaneovalgus [Term] id: HP:0005852 name: Limited elbow extension and supination is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005853 name: Congenital foot contraction deformities is_a: HP:0002803 ! Congenital contracture [Term] id: HP:0005855 name: Multiple prenatal fractures alt_id: HP:0002811 alt_id: HP:0005761 def: "The presence of bone fractures in the prenatal period that are diagnosed at birth or before." [HPO:curators] synonym: "Congenital bone fractures" EXACT [] synonym: "Multiple fractures present at birth" EXACT [] synonym: "Multiple fractures, present at birth" EXACT [] synonym: "Numerous multiple fractures present at birth" EXACT [] synonym: "Numerous multiple fractures that are present at birth" EXACT [] is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0005856 name: Ulnar radial head dislocation def: "A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction." [HPO:probinson] synonym: "Ulnar dislocation of radial heads" EXACT [] is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005857 name: Cervical spina bifida xref: UMLS:C0742190 "CERVICAL SPINA BIFIDA" is_a: HP:0002414 ! Spina bifida [Term] id: HP:0005863 name: Type E brachydactyly alt_id: HP:0006115 def: "In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals." [HPO:probinson] xref: UMLS:C1862102 "BRACHYDACTYLY, TYPE E" is_a: HP:0001156 ! Brachydactyly syndrome [Term] id: HP:0005864 name: Pseudoarthrosis def: "A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \"false joint\")." [HPO:probinson] synonym: "Pseudoarthroses" EXACT [] xref: MeSH:D011542 "Pseudoarthrosis" xref: UMLS:C0033785 "Pseudoarthrosis" is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0005866 name: Opposable triphalangeal thumb def: "A form of triphalangeal thumb that can be placed opposite the fingers of the same hand." [HPO:probinson] is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005867 name: Fused fourth and fifth metacarpals synonym: "Fused 4th-5th metacarpals" EXACT [] xref: UMLS:C1859768 "Fused 4th-5th metacarpals" is_a: HP:0009707 ! Synostosis involving the 4th metacarpal [Term] id: HP:0005868 name: Metaphyseal enchondromatosis xref: UMLS:C0265290 "Metaphyseal chondrodysplasia" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005871 name: Metaphyseal chondrodysplasia alt_id: HP:0006377 def: "An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae." [HPO:probinson, pmid:335375] comment: The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred. xref: UMLS:C0265290 "Metaphyseal chondrodysplasia" is_a: HP:0100255 ! Metaphyseal dysplasia [Term] id: HP:0005872 name: Brachytelomesophalangy alt_id: HP:0005777 alt_id: HP:0006093 def: "Disproportionately short middle and distal phalanges compared to the hand/foot." [HPO:probinson] synonym: "Progressive brachydactyly of middle and distal phalanges" EXACT [] synonym: "Short middle and distal phalanges of digits ii through v" EXACT [] is_a: HP:0001156 ! Brachydactyly syndrome [Term] id: HP:0005873 name: Polysyndactyly of hallux def: "Combined syndactyly and polydactyly of the great toe." [HPO:probinson] synonym: "Polysyndactyly of great toe" EXACT [] is_a: HP:0001841 ! Preaxial foot polydactyly [Term] id: HP:0005875 name: Increased dermatoglyphic whorls is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005876 name: Progressive flexion contractures def: "Progressively worsening joint contractures." [HPO:probinson] synonym: "Joint contractures, progressive" EXACT [] is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0005877 name: Multiple small vertebral fractures is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0005878 name: Enlarged sagittal diameter of the cervical canal is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0005879 name: Congenital finger flexion contractures def: "Multiple bent (flexed) finger joints that cannot be straightened actively or passively." [HPO:probinson] synonym: "Congenital finger contractures" EXACT [] xref: UMLS:C1393871 "Congenital finger contractures" is_a: HP:0002803 ! Congenital contracture is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0005880 name: Metacarpophalangeal synostosis alt_id: HP:0100325 def: "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint." [HPO:probinson] is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint property_value: HP:0040005 "Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding `metacarpophalangeal joint` (FMA:35246)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005881 name: Spinal instability xref: UMLS:C0410648 "Spinal instability" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0005882 name: Dermatoglyphic variants is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005885 name: Absent ossification of cervical vertebral bodies def: "A lack of bone mineralization of one or more body of cervical vertebra." [HPO:probinson] is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies property_value: HP:0040005 "A lack of `bone mineralization` (GO:0030282) of one or more `body of cervical vertebra` (FMA:13457)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005886 name: Aphalangy of the hands def: "Absence of a digit or of one or more phalanges of a finger." [HPO:probinson] is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005890 name: Hyperostosis cranialis interna def: "Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull." [HPO:probinson] xref: UMLS:C1840404 "HYPEROSTOSIS CRANIALIS INTERNA" is_a: HP:0004437 ! Cranial hyperostosis property_value: HP:0040005 "Bony overgrowth of the internal (endosteal) surface of the `calvaria` (FMA:52800) and the `base of skull` (FMA:52801 )." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005891 name: Progressive forearm bowing def: "Progressive bending or abnormal curvature of the forearm skeleton." [HPO:probinson] synonym: "Progressive forearm curvature" EXACT [] is_a: HP:0003956 ! Bowed forearm bones is_a: HP:0006383 ! Progressive bowing of long bones property_value: HP:0040005 "Progressive bending or abnormal curvature of the `forearm skeleton` (FMA:71199)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005892 name: Proximal tibial and fibular fusion is_a: HP:0005928 ! Synostosis involving the fibula is_a: HP:0005929 ! Synostosis involving the tibia [Term] id: HP:0005894 name: Double first metacarpals def: "Duplication of the metacarpal I bones." [HPO:curators] is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0005895 name: Radial deviation of thumb terminal phalanx is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005897 name: Severe osteoporosis alt_id: HP:0005838 def: "Severe degree of osteoporosis." [HPO:curators] synonym: "Severe, generalized osteoporosis" EXACT [] xref: UMLS:C1859443 "Severe osteoporosis" is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005899 name: Metaphyseal dysostosis xref: UMLS:C0265290 "Metaphyseal chondrodysplasia" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005900 name: Fifth metacarpal with ulnar notch def: "Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger)." [HPO:probinson] synonym: "Fifth metacarpal notched on ulnar side" EXACT [] is_a: HP:0010013 ! Abnormality of the 5th metacarpal [Term] id: HP:0005901 name: Chronic recurrent multifocal osteomyelitis xref: UMLS:C0410422 "CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS" is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005905 name: Abnormal cervical curvature def: "The presence of an abnormal curvature of the cervical vertebral column." [HPO:probinson] is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column property_value: HP:0040005 "The presence of an `abnormal` (PATO:0000460) `curvature` (PATO:0001591) of the `cervical vertebral column` (FMA:24138)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005906 name: Delayed pneumatization of the mastoid process def: "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [HPO:probinson] subset: hposlim_core synonym: "Mastoid processes poorly pneumatized" EXACT [] is_a: HP:0000264 ! Abnormality of the mastoid property_value: HP:0040005 "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the `mastoid process` (FMA:52872) with respect to age-dependent norms." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005910 name: Rhomboid or triangular shaped 5th finger middle phalanx def: "Rhomboid or triangular shaped 5th (little) finger middle phalanx." [HPO:curators] synonym: "Rhomboid or triangular shaped fifth finger middle phalanx" EXACT [] is_a: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger [Term] id: HP:0005912 name: Biliary atresia def: "Atresia in of the biliary tree." [HPO:probinson] synonym: "Biliary duct atresia" EXACT [] xref: MeSH:D001656 "Biliary Atresia" xref: UMLS:C0005411 "Biliary Atresia" is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: HP:0040005 "`Atresia` (PATO:0001819) in of the `biliary tree` (FMA:14665)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-27T02:07:00Z [Term] id: HP:0005913 name: Abnormality of metacarpal epiphyses is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0005924 ! Abnormality of the epiphyses of the hand created_by: peter creation_date: 2008-03-27T02:13:00Z [Term] id: HP:0005914 name: Aplasia/Hypoplasia involving the metacarpal bones alt_id: HP:0006007 def: "Aplasia or Hypoplasia affecting the metacarpal bones." [HPO:curators] synonym: "Absent or hypoplastic metacarpals" EXACT [] synonym: "Aplastic/hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic/absent metacarpal bones" EXACT [] synonym: "Hypoplastic/absent metacarpals" EXACT [] synonym: "Metacarpal aplasia/hypoplasia" EXACT [] xref: UMLS:C1836192 "Hypoplastic metacarpals" is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-27T02:14:00Z [Term] id: HP:0005916 name: Abnormal metacarpal morphology alt_id: HP:0010556 def: "Irregularly shaped metacarpal bones of varying degree." [HPO:curators] synonym: "Abnormal shape of metacarpal bones" EXACT [] is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2008-03-27T02:17:00Z [Term] id: HP:0005917 name: Supernumerary metacarpal bones def: "The presence of more than the normal number of metacarpal bones." [HPO:curators] xref: UMLS:C0545617 "Supernumerary metacarpal bone" is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2008-03-27T02:18:00Z [Term] id: HP:0005918 name: Abnormality of phalanx of finger alt_id: HP:0005786 alt_id: HP:0006259 def: "Abnormalities affecting the phalanx of finger." [HPO:probinson] comment: This category is a supercategory for abnormalties affect phalanges of the hand. synonym: "Abnormal form of phalanges of the hand" EXACT [] synonym: "Abnormality of the phalanges" EXACT [] synonym: "Abnormality of the phalanges of the hand" EXACT [] is_a: HP:0001167 ! Abnormality of finger property_value: HP:0040005 "Abnormalities affecting the `phalanx of finger` (FMA:23914)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-27T02:19:00Z [Term] id: HP:0005920 name: Abnormality of the epiphyses of the phalanges of the hand alt_id: HP:0009151 def: "Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] synonym: "Abnormality of the epiphyses of the fingers" EXACT [] is_a: HP:0005918 ! Abnormality of phalanx of finger is_a: HP:0005924 ! Abnormality of the epiphyses of the hand created_by: peter creation_date: 2008-03-27T02:21:00Z [Term] id: HP:0005921 name: Abnormal ossification of hand bones is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:23:00Z [Term] id: HP:0005922 name: Abnormal hand morphology alt_id: HP:0003098 def: "Any structural anomaly of the hand." [HPO:probinson] comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. is_a: HP:0001155 ! Abnormality of the hand property_value: HP:0040005 "Any structural anomaly of the `hand` (FMA:9712)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-27T02:25:00Z [Term] id: HP:0005923 name: Abnormalities of the metaphyses of the hand is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009809 ! Abnormality of upper limb metaphysis created_by: peter creation_date: 2008-03-27T02:27:00Z [Term] id: HP:0005924 name: Abnormality of the epiphyses of the hand def: "Any abnormality of the epiphyses of the phalanges or metacarpal bones." [HPO:curators] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs created_by: peter creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005925 name: Abnormalities of the diaphyses of the hand is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009808 ! Anomaly of the upper limb diaphyses created_by: peter creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005926 name: Abnormalities of the cortex of hand bones is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003103 ! Abnormal cortical bone morphology created_by: peter creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005927 name: Aplasia/hypoplasia involving bones of the hand def: "Absence (due to failure to form) or underdevelopment of the bones of the hand." [HPO:probinson] synonym: "Hypoplasia/absence of hand bones" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005928 name: Synostosis involving the fibula is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0009138 ! Synostosis involving bones of the lower limbs is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005929 name: Synostosis involving the tibia is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0009138 ! Synostosis involving bones of the lower limbs is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005930 name: Abnormality of the epiphyses alt_id: HP:0000936 def: "An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk." [HPO:probinson] synonym: "Anomaly of the epiphyses" EXACT [] synonym: "Epiphyseal abnormality" EXACT [] is_a: HP:0011314 ! Abnormality of long bone morphology created_by: peter creation_date: 2008-03-27T03:00:00Z [Term] id: HP:0005932 name: Abnormal renal corticomedullary differentiation def: "An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla." [HPO:probinson] comment: On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection. is_a: HP:0011035 ! Abnormality of the renal cortex is_a: HP:0100957 ! Abnormality of the renal medulla created_by: peter creation_date: 2008-03-27T03:21:00Z [Term] id: HP:0005934 name: Imperfect vocal cord adduction is_a: HP:0008777 ! Abnormality of the vocal cords [Term] id: HP:0005938 name: Abnormal respiratory motile cilium morphology def: "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms." [HPO:probinson, MP:0011050] is_a: HP:0012253 ! Abnormal respiratory epithelium morphology [Term] id: HP:0005939 name: Multiple bilateral pneumothoraces is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0005941 name: Intermittent hyperpnea at rest is_a: HP:0004879 ! intermittent hyperventilation [Term] id: HP:0005942 name: Desquamative interstitial pneumonitis xref: UMLS:C0238378 "Desquamative interstitial pneumonitis" is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0005943 name: Respiratory arrest xref: UMLS:C0162297 "Respiratory arrest" is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0005944 name: Bilateral lung agenesis alt_id: HP:0006550 def: "Bilateral lack of development of the lungs." [HPO:probinson] synonym: "Bilateral pulmonary agenesis" EXACT [] is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0005945 name: Laryngeal obstruction def: "Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress." [HPO:probinson] xref: UMLS:C0264306 "Laryngeal obstruction" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005946 name: Ventilator dependence with inability to wean is_a: HP:0004887 ! Respiratory failure requiring assisted ventilation [Term] id: HP:0005947 name: Decreased sensitivity to hypoxemia def: "Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration." [HPO:probinson] comment: Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood). is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0005948 name: Cystic lung disease is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0005949 name: Apneic episodes in infancy def: "Recurrent episodes of apnea occurring during infancy." [HPO:curators] is_a: HP:0002104 ! Apnea [Term] id: HP:0005950 name: Laryngeal web def: "A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords." [HPO:probinson] comment: Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry). synonym: "LARYNGEAL WEBS" EXACT [HPO:skoehler] synonym: "Partial laryngeal atresia" EXACT [] is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005951 name: Progressive inspiratory stridor is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0005952 name: Decreased pulmonary function is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005954 name: Pulmonary capillary hemangiomatosis synonym: "Pulmonary hemangiomas" EXACT [] xref: UMLS:C1860397 "Pulmonary hemangiomas" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0005306 ! Capillary hemangiomas is_a: HP:0007461 ! Hemangiomatosis [Term] id: HP:0005956 name: Anteroposteriorly shortened larynx def: "Abnormal shortening of the larynx in the anteroposterior (front to back) axis." [HPO:probinson] is_a: HP:0001600 ! Abnormality of the larynx property_value: HP:0040005 "Abnormal shortening of the `larynx` (FMA:55097) in the anteroposterior (front to back) axis." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005957 name: Breathing dysregulation xref: UMLS:C1970802 "Breathing dysregulation" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005959 name: Impaired gluconeogenesis def: "An impairment of gluconeogenesis." [HPO:gcarletti] synonym: "Gluconeogenesis impaired" EXACT [] is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: HP:0040005 "An impairment of `gluconeogenesis` (GO:0006094)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0005961 name: Hypoargininemia def: "A decreased concentration of arginine in the blood." [HPO:gcarletti] synonym: "Arginine deficiency" RELATED [] xref: UMLS:C1859735 "Arginine deficiency" is_a: HP:0010909 ! Abnormality of arginine metabolism property_value: HP:0040005 "A decreased concentration of `arginine` (CHEBI:29016) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0005964 name: Intermittent hypothermia alt_id: HP:0005970 def: "Episodes of reduced body termperature." [HPO:probinson] xref: UMLS:C1837639 "Intermittent hypothermia" is_a: HP:0002045 ! Hypothermia [Term] id: HP:0005967 name: Mixed respiratory and metabolic acidosis is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005968 name: Temperature instability def: "Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature." [HPO:curators] synonym: "BODY TEMPERATURE INSTABILITY" RELATED [HPO:skoehler] xref: UMLS:C1820737 "Temperature instability" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0005972 name: Respiratory acidosis def: "Acidosis because of respiratory retention of carbon dioxide." [HPO:probinson] xref: MeSH:D000142 "Acidosis, Respiratory" xref: UMLS:C0001127 "Acidosis, Respiratory" is_a: HP:0001941 ! Acidosis [Term] id: HP:0005973 name: Fructose intolerance xref: MeSH:D005633 "Fructose Intolerance" xref: UMLS:C0016751 "Fructose Intolerance" is_a: HP:0011033 ! Impairment of fructose metabolism [Term] id: HP:0005974 name: Episodic ketoacidosis alt_id: HP:0005981 alt_id: HP:0005983 def: "Intermittent episodes of ketoacidosis." [HPO:probinson] synonym: "Ketoacidosis, episodic" EXACT [] is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005976 name: Hyperkalemic metabolic acidosis xref: UMLS:C1865880 "Hyperkalemic metabolic acidosis" is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005977 name: Hypochloremic metabolic alkalosis xref: UMLS:C0740895 "Hypochloremic metabolic alkalosis" is_a: HP:0001948 ! Alkalosis [Term] id: HP:0005978 name: Type II diabetes mellitus alt_id: HP:0005965 alt_id: HP:0100652 def: "A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia." [HPO:probinson] comment: Persons with type II diabetes mellitus rarely develop ketoacidosis. synonym: "Diabetes mellitus type 2" RELATED [] synonym: "Diabetes mellitus Type II" EXACT [] synonym: "Diabetes mellitus, noninsulin-dependent" EXACT [] synonym: "NIDDM diabetes mellitus" EXACT [] synonym: "Noninsulin dependent diabetes mellitus (NIDDM)" EXACT [] synonym: "Noninsulin-dependent diabetes" EXACT [] synonym: "Noninsulin-dependent diabetes mellitus" RELATED [] xref: MeSH:D003924 "Diabetes Mellitus, Type 2" is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0005979 name: Metabolic ketoacidosis alt_id: HP:0005971 xref: UMLS:C1854704 "Metabolic ketoacidosis" is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005982 name: Reduced phenylalanine hydroxylase activity def: "A reduction in phenylalanine 4-monooxygenase activity." [HPO:probinson] synonym: "Phenylalanine hydroxylase deficiency" RELATED [] xref: UMLS:C1418251 "PHENYLALANINE HYDROXYLASE DEFICIENCY" is_a: HP:0010893 ! Abnormality of phenylalanine metabolism property_value: HP:0040005 "A reduction in `phenylalanine 4-monooxygenase activity` (GO:0004505)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005984 name: Elevated maternal serum alpha-fetoprotein def: "An elevation of alpha-feto protein in the maternal serum." [HPO:curators] xref: UMLS:C0740927 "Elevated maternal serum alpha-fetoprotein" is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0005986 name: Limitation of neck motion is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0005987 name: Multinodular goiter def: "Enlargement of the thyroid gland related to multiple nodules in the thyroid gland." [DDD:spark] xref: UMLS:C0342208 "Multinodular goiter" is_a: HP:0005994 ! Nodular goiter [Term] id: HP:0005988 name: Congenital muscular torticollis def: "A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending." [HPO:probinson] comment: Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis. synonym: "Torticollis, congenital" EXACT [] is_a: HP:0011006 ! Abnormality of the musculature of the neck [Term] id: HP:0005989 name: Redundant neck skin alt_id: HP:0005993 alt_id: HP:0005996 def: "Excess skin around the neck, often lying in horizontal folds." [pmid:19125436] comment: With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used. synonym: "Redundant nuchal skin" EXACT [] synonym: "Redundant skin folds of neck" EXACT [] synonym: "Redundant skin over the neck" EXACT [] xref: UMLS:C1840319 "Redundant neck skin" is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0001582 ! Redundant skin [Term] id: HP:0005990 name: Thyroid hypoplasia def: "Developmental hypoplasia of the thyroid gland." [HPO:probinson] synonym: "Hypoplastic thyroid" EXACT [] is_a: HP:0008188 ! Thyroid dysgenesis property_value: HP:0040005 "Developmental hypoplasia of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005991 name: Limited neck flexion xref: UMLS:C1864449 "Limited neck flexion" is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005994 name: Nodular goiter def: "Enlargement of the thyroid gland related to one or more nodules in the thyroid gland." [HPO:probinson] xref: MeSH:D006044 "Goiter, Nodular" xref: UMLS:C0018023 "Nodular Goiter" is_a: HP:0000853 ! Goiter [Term] id: HP:0005995 name: Decreased adipose tissue around neck def: "Reduced amount of adipose tissue in the region of the neck." [HPO:probinson] synonym: "Loss of adipose tissue around the neck" EXACT [] is_a: HP:0003758 ! Reduced subcutaneous adipose tissue property_value: HP:0040005 "Reduced amount of `adipose tissue` (FMA:20110) in the region of the neck." xsd:string {xref="HPO:probinson"} [Term] id: HP:0005997 name: Restricted neck movement due to contractures is_a: HP:0001371 ! Flexion contracture is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005999 name: Ureteral atresia def: "The presence of atretic ureter." [HPO:probinson] xref: UMLS:C1842055 "Ureteral atresia" is_a: HP:0000069 ! Abnormality of the ureter property_value: HP:0040005 "The presence of `atretic` (PATO:0001819) `ureter` (FMA:9704)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006000 name: Ureteral obstruction def: "Obstruction of the flow of urine through the ureter." [HPO:probinson] xref: MeSH:D014517 "Ureteral Obstruction" xref: UMLS:C0041956 "Ureteral obstruction" is_a: HP:0000069 ! Abnormality of the ureter property_value: HP:0040005 "Obstruction of the flow of urine through the `ureter` (FMA:9704)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006006 name: Hypotrophy of the small hand muscles is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0006008 name: Unilateral brachydactyly xref: UMLS:C1868164 "Unilateral brachydactyly" is_a: HP:0001156 ! Brachydactyly syndrome [Term] id: HP:0006009 name: Broad phalanx alt_id: HP:0006030 alt_id: HP:0006249 def: "Increased side-to-side width of one or more phalanges of the fingers or toes." [HPO:probinson] synonym: "Broad phalanges" EXACT [] synonym: "Wide phalanges" EXACT [] synonym: "Widened phalanges" EXACT [] xref: UMLS:C1855185 "Widened phalanges" is_a: HP:0005622 ! Broad long bones is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0011297 ! Abnormality of digit [Term] id: HP:0006011 name: Cuboidal metacarpal def: "Severely shortened metacarpal with a cuboidal appearance." [HPO:probinson] comment: The metacarpals are normally tubular in appearance. is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006012 name: Widened metacarpal shaft xref: UMLS:C1850159 "Widened metacarpal shaft" is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006014 name: Abnormally shaped carpal bones is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006016 name: Delayed phalangeal epiphyseal ossification def: "Delay in the process of formation and maturation of the epiphysis of one or more phalanx." [HPO:probinson] synonym: "Delayed phalangeal epiphyseal bone maturation" EXACT [] is_a: HP:0002663 ! Delayed epiphyseal ossification property_value: HP:0040005 "Delay in the process of formation and maturation of the `epiphysis` (FMA:24012) of one or more phalanx." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006019 name: Reduced proximal interphalangeal joint space xref: UMLS:C1861396 "Reduced proximal interphalangeal joint space" is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006026 name: Rounded epiphyses xref: UMLS:C1850632 "Rounded epiphyses" is_a: HP:0005924 ! Abnormality of the epiphyses of the hand [Term] id: HP:0006028 name: Metaphyseal cupping of metacarpals alt_id: HP:0006131 def: "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] synonym: "Metacarpal/metaphyseal cupping" EXACT [] is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006035 name: Cone-shaped epiphyses of phalanges 2 to 5 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand [Term] id: HP:0006040 name: Long second metacarpal xref: UMLS:C1861531 "Long second metacarpal" is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal [Term] id: HP:0006042 name: Y-shaped metacarpals def: "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [HPO:curators] xref: UMLS:C1861373 "Y-shaped metacarpals" is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006045 name: Short pointed phalanges xref: UMLS:C1849740 "Short pointed phalanges" is_a: HP:0009803 ! Short phalanx of finger [Term] id: HP:0006048 name: Distal widening of metacarpals def: "Abnormal increase in width of the distal region of the metacarpal bones." [HPO:curators] is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006051 name: Metacarpal periosteal thickening xref: UMLS:C1834347 "Metacarpal periosteal thickening" is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006055 name: Ulnar deviated club hands xref: UMLS:C1833881 "Ulnar deviated club hands" is_a: HP:0009487 ! Ulnar deviation of the hand [Term] id: HP:0006059 name: Cone-shaped metacarpal epiphyses def: "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] synonym: "Metacarpal cone-shaped epiphyses" RELATED [] xref: UMLS:C1855239 "Metacarpal cone-shaped epiphyses" is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010579 ! Cone-shaped epiphysis [Term] id: HP:0006060 name: Tombstone-shaped proximal phalanges is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006064 name: Limited interphalangeal movement xref: UMLS:C1840089 "Limited interphalangeal movement" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006067 name: Multiple carpal ossification centers def: "A delay in the process of formation and maturation of the epiphysis of one or more long bones." [HPO:probinson] xref: UMLS:C1835573 "Multiple carpal ossification centers" is_a: HP:0005921 ! Abnormal ossification of hand bones is_a: HP:0006257 ! Abnormality of carpal bone ossification property_value: HP:0040005 "A delay in the process of formation and maturation of the `epiphysis` (FMA:24012) of one or more long bones." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006069 name: Severe carpal ossification delay xref: UMLS:C1866703 "Severe carpal ossification delay" is_a: HP:0001216 ! Delayed ossification of carpal bones [Term] id: HP:0006070 name: Metacarpophalangeal joint contracture alt_id: HP:0005674 def: "A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] comment: In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be researved for a painless flexion contracture of the proximal interphalangeal (PIP) joint. synonym: "Metacarpal/phalangeal joint contractures" EXACT [] is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint [Term] id: HP:0006077 name: Absent proximal finger flexion creases def: "Absence of the proximal interphalangeal flexion creases of the fingers." [HPO:probinson] xref: UMLS:C1850048 "Absent proximal finger flexion creases" is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0006086 name: Thin metacarpal cortices xref: UMLS:C1850160 "Thin metacarpal cortices" is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006088 name: 1-5 finger complete cutaneous syndactyly is_a: HP:0010554 ! Cutaneous finger syndactyly [Term] id: HP:0006089 name: Palmar hyperhidrosis xref: UMLS:C1856953 "Palmar hyperhidrosis" is_a: HP:0000975 ! Hyperhidrosis is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0006092 name: Malaligned carpal bone def: "Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna)." [HPO:sdoelken] xref: UMLS:C1856742 "Malaligned carpal bone" is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006094 name: Finger joint hypermobility xref: UMLS:C0574974 "Finger joint hypermobility" is_a: HP:0001382 ! Joint hypermobility is_a: HP:0006256 ! Abnormality of hand joint mobility [Term] id: HP:0006095 name: Wide tufts of distal phalanges is_a: HP:0006200 ! Widened distal phalanges [Term] id: HP:0006097 name: 3-4 finger syndactyly alt_id: HP:0006133 def: "Syndactyly with fusion of fingers three and four." [HPO:sdoelken] synonym: "Partial or complete syndactyly 3rd-4th fingers" EXACT [] is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers three and four." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0006099 name: Metacarpophalangeal joint hyperextensibility def: "Increased mobility of one ore more metacarpophalangeal joint." [HPO:probinson] xref: UMLS:C1969542 "Metacarpophalangeal joint hyperextensibility" is_a: HP:0011911 ! Abnormality of metacarpophalangeal joint property_value: HP:0040005 "Increased mobility of one ore more `metacarpophalangeal joint` (FMA:35246)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006101 name: Finger syndactyly alt_id: HP:0006057 def: "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as \"Symphalangism\"." [HPO:curators] synonym: "Partial syndactyly" EXACT [] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006106 name: Absent trapezoid bone xref: UMLS:C1847191 "Absent trapezoid bone" is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0006107 name: Fingerpad telangiectases alt_id: HP:0006246 def: "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [HPO:curators] synonym: "Finger pad telangiectases" EXACT [] xref: UMLS:C1838168 "Fingerpad telangiectases" is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0006108 name: Tapered metacarpals def: "Metacarpal that becomes thinner toward the distal end." [HPO:probinson] is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006109 name: Absent phalangeal crease alt_id: HP:0006031 def: "Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)." [HPO:probinson] synonym: "Absent interphalangeal creases" EXACT [] synonym: "Aplasia of the interphalangeal creases" RELATED [] xref: UMLS:C1862479 "Absent phalangeal creases" is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006110 name: Shortening of all middle phalanges of the fingers def: "Short (hypoplastic middle phalanx of finger, affecting all fingers." [HPO:probinson] synonym: "Disproportionately short middle phalanges" EXACT [] xref: UMLS:C1856912 "Disproportionately short middle phalanges" is_a: HP:0005819 ! Short middle phalanx of finger property_value: HP:0040005 "Short (hypoplastic `middle phalanx of finger` (FMA:75817), affecting all fingers." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006112 name: Expanded phalanges with widened medullary cavities is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006114 name: Multiple palmar creases def: "The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease)." [HPO:probinson] xref: UMLS:C1861872 "Multiple palmar creases" is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006118 name: Shortening of all distal phalanges of the fingers alt_id: HP:0005658 def: "Hypoplasia of all of the distal phalanx of finger." [HPO:probinson] synonym: "Distal and middle phalangeal hypoplasia" EXACT [] is_a: HP:0009882 ! Short distal phalanx of finger property_value: HP:0040005 "Hypoplasia of all of the `distal phalanx of finger` (FMA:75818)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006119 name: Proximal tapering of metacarpals def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [HPO:sdoelken] subset: hposlim_core synonym: "Pointed proximal metacarpals" EXACT [HPO:sdoelken] xref: UMLS:C1854749 "Pointed proximal metacarpals" is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006121 name: Acral ulceration leading to autoamputation of digits is_a: HP:0007460 ! Autoamputation of digits is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0006127 name: Long proximal phalanx of finger def: "Increased length of the proximal phalanx of finger." [HPO:probinson] is_a: HP:0006155 ! Long phalanx of finger is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand property_value: HP:0040005 "Increased length of the `proximal phalanx of finger` (FMA:75816)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006129 name: Drumstick terminal phalanges def: "Rounding and broadening of the tufts of the distal phalanges." [HPO:probinson] comment: This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg). xref: UMLS:C0576464 "Distal phalanx" is_a: HP:0009832 ! Abnormality of the distal phalanx of finger [Term] id: HP:0006134 name: Enlarged metacarpal epiphyses def: "Abnormally large size of the metaphyseal epiphyses." [HPO:curators] xref: UMLS:C1865035 "Enlarged metacarpal epiphyses" is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0006135 name: Decreased finger mobility xref: UMLS:C1862133 "Decreased finger mobility" is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0006136 name: Bilateral postaxial polydactyly xref: UMLS:C1855003 "Bilateral postaxial polydactyly" is_a: HP:0001162 ! Postaxial hand polydactyly [Term] id: HP:0006140 name: Premature fusion of phalangeal epiphyses def: "Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth." [HPO:probinson] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0006143 name: Abnormal finger flexion creases xref: UMLS:C1859481 "Abnormal finger flexion creases" is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0006144 name: Shortening of all proximal phalanges of the fingers alt_id: HP:0006021 def: "Congenital hypoplasia of proximal phalanx of finger of all fingers." [HPO:probinson] xref: UMLS:C1860606 "Short proximal phalanges" is_a: HP:0010241 ! Short proximal phalanx of finger property_value: HP:0040005 "Congenital hypoplasia of `proximal phalanx of finger` (FMA:75816) of all fingers." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006145 name: Central Y-shaped metacarpal def: "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [HPO:curators] xref: UMLS:C1848597 "Central Y-shaped metacarpal" is_a: HP:0006042 ! Y-shaped metacarpals [Term] id: HP:0006146 name: Broad metacarpal epiphyses def: "Increased side-to-side width of the metacarpal epiphyses." [HPO:probinson] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses [Term] id: HP:0006147 name: Progressive fusion 2nd-5th pip joints xref: UMLS:C1861310 "Progressive fusion 2nd-5th PIP joints" is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006149 name: Increased laxity of fingers is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006150 name: Swan neck-like deformities of the fingers def: "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke." [HPO:curators] is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0006152 name: Proximal symphalangism (hands) alt_id: HP:0006005 def: "The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases." [HPO:sdoelken] synonym: "Proximal interphalangeal joint synostoses" EXACT [] is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0100264 ! Proximal symphalangism [Term] id: HP:0006153 name: Disharmonious carpal bone xref: UMLS:C0007285 "Carpal Bones" is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0006155 name: Long phalanx of finger def: "Increased length of multiple or a single phalanx of finger." [HPO:probinson] is_a: HP:0005918 ! Abnormality of phalanx of finger property_value: HP:0040005 "Increased length of multiple or a single `phalanx of finger` (FMA:23914)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006156 name: Ulnar deviation of thumb def: "Bending or curvature of a thumb towards the ulnar side (towards the ring finger)." [HPO:probinson, pmid:10955488] synonym: "Ulnar deviation of the 1st finger" EXACT [] is_a: HP:0009465 ! Ulnar deviation of finger [Term] id: HP:0006157 name: Prominent palmar flexion creases xref: UMLS:C1865131 "Prominent palmar flexion creases" is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006158 name: Finger joint hyperextensibility xref: UMLS:C1844577 "Finger joint hyperextensibility" is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006159 name: Mesoaxial hand polydactyly alt_id: HP:0001496 alt_id: HP:0004056 def: "The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly." [HPO:probinson] subset: hposlim_core synonym: "Central polydactyly (hands)" RELATED [] synonym: "Interdigital polydactyly (hand)" EXACT [] xref: UMLS:C1856011 "Mesoaxial polydactyly" is_a: HP:0001161 ! Hand polydactyly is_a: HP:0100260 ! Mesoaxial polydactyly [Term] id: HP:0006160 name: Irregular metacarpals def: "Irregular morphology of one or more metacarpal bones." [HPO:probinson] is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006161 name: Short metacarpals with rounded proximal ends is_a: HP:0010049 ! Short metacarpal [Term] id: HP:0006162 name: Soft tissue swelling of interphalangeal joints is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006163 name: Enlarged metacarpophalangeal joints xref: UMLS:C1859700 "Enlarged metacarpophalangeal joints" is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006165 name: Proportionate shortening of all digits is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0006166 name: Tubular metacarpal bones xref: UMLS:C1859369 "Tubular metacarpal bones" is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006167 name: Prominent proximal interphalangeal joints is_a: HP:0006237 ! Prominent interphalangeal joints [Term] id: HP:0006169 name: Decreased mobility 3rd-5th fingers xref: UMLS:C1833882 "Decreased mobility 3rd-5th fingers" is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006170 name: Chess-pawn distal phalanges def: "A morphological abnormality of distal phalanges such that they have the appearance of chess pawns." [HPO:probinson] xref: UMLS:C1862097 "'Chess-pawn' distal phalanges" is_a: HP:0009832 ! Abnormality of the distal phalanx of finger [Term] id: HP:0006172 name: Flattened, squared-off epiphyses of tubular bones is_a: HP:0003053 ! Epiphyseal deformities of tubular bones is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0006174 name: Metacarpal diaphyseal endosteal sclerosis def: "Increase in bone denisty in the diaphyseal (shaft) region of a metacarpal bone." [HPO:probinson] xref: UMLS:C1840419 "Metacarpal diaphyseal endosteal sclerosis" is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0006175 name: Proximal phalangeal periosteal thickening xref: UMLS:C1834348 "Proximal phalangeal periosteal thickening" is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006176 name: Two carpal ossification centers present at birth is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006179 name: Pseudoepiphyses of second metacarpal is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals [Term] id: HP:0006180 name: Crowded carpal bones xref: UMLS:C1863317 "Crowded carpal bones" is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006184 name: Decreased palmar creases alt_id: HP:0006178 def: "Poorly defined or shallow palmar creases." [pmid:19125433] subset: hposlim_core synonym: "Hypoplastic palmar creases" EXACT [] synonym: "Poorly formed palmar creases" EXACT [] xref: UMLS:C1857483 "Hypoplastic palmar creases" is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases [Term] id: HP:0006185 name: Enlarged proximal interphalangeal joints xref: UMLS:C1861350 "Enlarged proximal interphalangeal joints" is_a: HP:0006247 ! Enlarged interphalangeal joints [Term] id: HP:0006187 name: Fusion of midphalangeal joints is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006189 name: Prominent interdigital folds is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006190 name: Radially deviated wrists xref: UMLS:C1861316 "Radially deviated wrists" is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0006191 name: Deep palmar crease def: "Excessively deep creases of the palm." [pmid:19125433] subset: hposlim_core synonym: "Deep palmar creases" EXACT [] xref: UMLS:C1857539 "Deep palmar creases" is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006192 name: Tapered phalanx of finger def: "Phalanges of the fingers becoming thinner toward the distal end." [HPO:probinson] is_a: HP:0005918 ! Abnormality of phalanx of finger [Term] id: HP:0006193 name: Thimble-shaped middle phalanges of hand def: "The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat." [HPO:probinson] is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand property_value: HP:0040005 "The `middle phalanx of finger` (FMA:75817) resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006200 name: Widened distal phalanges xref: UMLS:C1862421 "Widened distal phalanges" is_a: HP:0006009 ! Broad phalanx [Term] id: HP:0006201 name: Hypermobility of distal interphalangeal joints is_a: HP:0005620 ! Hypermobility of interphalangeal joints [Term] id: HP:0006202 name: Osteolysis of scaphoids is_a: HP:0004243 ! Abnormality of the scaphoid is_a: HP:0009699 ! Osteolytic defects of the hand bones [Term] id: HP:0006203 name: Decreased movement range in interphalangeal joints is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006205 name: Irregular phalanges def: "Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance." [HPO:probinson] is_a: HP:0005918 ! Abnormality of phalanx of finger [Term] id: HP:0006206 name: Hypersegmentation of proximal phalanx of second finger def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger." [HPO:probinson] comment: This anomaly is characteristic for brachydactyly type C. is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger [Term] id: HP:0006207 name: Partial fusion of carpals is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0006208 name: Metaphyseal cupping of proximal phalanges def: "Metaphyseal cupping affecting the proximal phalanges." [HPO:curators] is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006209 name: Partial-complete absence of 5th phalanges is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger [Term] id: HP:0006210 name: Postaxial oligodactyly xref: UMLS:C1867927 "Postaxial oligodactyly" is_a: HP:0001180 ! Oligodactyly (hands) [Term] id: HP:0006213 name: Thin proximal phalanges with broad epiphyses of the hand synonym: "Thin proximal phalanges with broad epiphyses" BROAD [] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006216 name: Single interphalangeal crease of fifth finger alt_id: HP:0006245 def: "Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger." [HPO:probinson] synonym: "Fifth finger single interphalangeal crease" EXACT [] xref: UMLS:C1850336 "Fifth finger single interphalangeal crease" is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0006217 name: Limited mobility of proximal interphalangeal joint is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006224 name: Tapering pointed ends of distal finger phalanges def: "A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms)." [HPO:probinson, pmid:10662807] is_a: HP:0009884 ! Tapered distal phalanges of finger property_value: HP:0040005 "A reduction in diameter of the `distal phalanx of finger` (FMA:75818) towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms)." xsd:string {xref="HPO:probinson", xref="pmid:10662807"} [Term] id: HP:0006226 name: Osteoarthritis of the first carpometacarpal joint is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006228 name: Valgus hand deformity xref: UMLS:C1860179 "Valgus hand deformity" is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0006230 name: Unilateral oligodactyly xref: UMLS:C1868165 "Unilateral oligodactyly" is_a: HP:0001180 ! Oligodactyly (hands) [Term] id: HP:0006232 name: Expanded metacarpals with widened medullary cavities is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006233 name: Osteoarthritis of the distal interphalangeal joint is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006234 name: Osteolysis involving tarsal bones alt_id: HP:0001858 def: "An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones." [HPO:sdoelken] synonym: "Tarsal bone osteolysis" EXACT [] synonym: "Tarsal osteolysis" EXACT [] xref: UMLS:C1833735 "Tarsal bone osteolysis" is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0009134 ! Osteolysis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0006236 name: Slender metacarpals def: "Decreased width of the metacarpal bones (that is, reduced diameter)." [HPO:probinson] is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006237 name: Prominent interphalangeal joints xref: UMLS:C1859115 "Prominent interphalangeal joints" is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006239 name: Shortening of all middle phalanges of the toes def: "Abnormal shortening of all middle phalanges of toes." [HPO:probinson] synonym: "Brachymesophalangy of feet" EXACT [] is_a: HP:0003795 ! Short middle phalanx of toe [Term] id: HP:0006243 name: Phalangeal dislocations is_a: HP:0005918 ! Abnormality of phalanx of finger [Term] id: HP:0006247 name: Enlarged interphalangeal joints xref: UMLS:C1859701 "Enlarged interphalangeal joints" is_a: HP:0003037 ! Enlarged joints is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006248 name: Limited wrist movement def: "An abnormal limitation of the mobility of the wrist." [HPO:probinson] subset: hposlim_core synonym: "Limited movement of the wrist" EXACT [] xref: UMLS:C1840088 "Limited wrist movement" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0006251 name: Limited wrist extension xref: UMLS:C1862481 "Limited wrist extension" is_a: HP:0006248 ! Limited wrist movement [Term] id: HP:0006252 name: Interphalangeal joint erosions xref: UMLS:C1850158 "Interphalangeal joint erosions" is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006253 name: Swelling of proximal interphalangeal joints is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006254 name: Elevated alpha-fetoprotein def: "An increased concentration of alpha-fetoprotein." [HPO:gcarletti] comment: An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele. synonym: "Alpha fetoprotein abnormal" RELATED [] synonym: "Increased levels of alpha fetoprotein" EXACT [] synonym: "Increased serum alpha-fetoprotein" EXACT [] synonym: "Serum alpha-fetoprotein increased" EXACT [] xref: UMLS:C0235971 "Elevated alpha-fetoprotein" is_a: HP:0010876 ! Abnormality of circulating protein level property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `alpha-fetoprotein`(PRO:000003809)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2008-03-28T09:17:00Z [Term] id: HP:0006256 name: Abnormality of hand joint mobility is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011729 ! Abnormality of joint mobility created_by: peter creation_date: 2008-03-28T10:14:00Z [Term] id: HP:0006257 name: Abnormality of carpal bone ossification is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0005921 ! Abnormal ossification of hand bones is_a: HP:0010660 ! Abnormal hand bone ossification created_by: peter creation_date: 2008-03-28T02:29:00Z [Term] id: HP:0006261 name: Abnormality of phalangeal joints of the hand alt_id: HP:0004266 synonym: "Abnormality of the small joints of the hand" EXACT [] is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: peter creation_date: 2008-03-28T02:55:00Z [Term] id: HP:0006262 name: Aplasia/Hypoplasia of the 5th finger def: "A small/hypoplastic or absent/aplastic 5th finger." [HPO:sdoelken] is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: peter creation_date: 2008-03-28T02:59:00Z [Term] id: HP:0006263 name: Abnormality of the epiphyses of the 2nd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger." [HPO:curators] is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: peter creation_date: 2008-03-28T03:04:00Z [Term] id: HP:0006264 name: Aplasia/Hypoplasia of the 2nd finger def: "A small/hypoplastic or absent/aplastic 2nd finger." [HPO:curators] is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: peter creation_date: 2008-03-28T03:06:00Z [Term] id: HP:0006265 name: Aplasia/Hypoplasia of fingers def: "Small/hypoplastic or absent/aplastic fingers." [HPO:curators] is_a: HP:0001167 ! Abnormality of finger is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-28T03:09:00Z [Term] id: HP:0006266 name: Small placenta def: "Reduced size of the placenta." [HPO:probinson] is_a: HP:0012767 ! Abnormal placental size property_value: HP:0040005 "Reduced size of the `placenta` (FMA:63934)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006267 name: Large placenta def: "Increased size of the placenta." [HPO:probinson] synonym: "Placental enlargement" EXACT [] xref: UMLS:C1855338 "Placental enlargement" is_a: HP:0012767 ! Abnormal placental size property_value: HP:0040005 "Increased size of the `placenta` (FMA:63934)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006268 name: Fluctuating splenomegaly def: "Intermittently increased size of the spleen." [HPO:probinson] xref: UMLS:C1835882 "Fluctuating splenomegaly" is_a: HP:0001744 ! Splenomegaly property_value: HP:0040005 "Intermittently `increased size` (PATO:0000586) of the `spleen` (FMA:7196)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006270 name: Hypoplastic spleen def: "Underdevelopment of the spleen." [HPO:curators] xref: UMLS:C1970617 "Hypoplastic spleen" is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen property_value: HP:0040005 "Underdevelopment of the `spleen` (FMA:7196)." xsd:string {xref="HPO:curators"} [Term] id: HP:0006273 name: Pancreatic lymphangiectasis def: "The presence of lymphangiectasis in the pancreas." [HPO:probinson] xref: UMLS:C1856162 "Pancreatic lymphangiectasis" is_a: HP:0012090 ! Abnormality of pancreas morphology property_value: HP:0040005 "The presence of `lymphangiectasis` (MPATH:98) in the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006274 name: Reduced pancreatic beta cells def: "Reduced number of beta cells in the pancreatic islets of Langerhans." [HPO:probinson] comment: The beta cells are responsible for producing insulin and amylin. xref: UMLS:C1856904 "Reduced pancreatic beta cells" is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006276 name: Hyperechogenic pancreas xref: UMLS:C1857945 "Hyperechogenic pancreas" is_a: HP:0012090 ! Abnormality of pancreas morphology [Term] id: HP:0006277 name: Pancreatic hyperplasia def: "Hyperplasia of the pancreas." [HPO:probinson] comment: Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process. xref: UMLS:C1851733 "Pancreatic hyperplasia" is_a: HP:0012094 ! Abnormal pancreas size property_value: HP:0040005 "`Hyperplasia` (MPATH:134) of the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006278 name: Ectopic pancreatic tissue def: "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut." [HPO:curators] xref: UMLS:C0994638 "Ectopic pancreatic tissue" is_a: HP:0012090 ! Abnormality of pancreas morphology [Term] id: HP:0006279 name: Beta-cell dysfunction xref: UMLS:C1969875 "Beta-cell dysfunction" is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006280 name: Chronic pancreatitis def: "A chronic form of pancreatitis." [HPO:probinson] xref: MeSH:D050500 "Chronic Pancreatitis" is_a: HP:0001733 ! Pancreatitis property_value: HP:0040005 "A `chronic` (PATO:0001863) form of `pancreatitis` (HP:0001733)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006282 name: Generalized hypoplasia of dental enamel def: "A generalized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier] is_a: HP:0006297 ! Hypoplasia of dental enamel property_value: HP:0040005 "A `generalized` (PATO:0001513) form of developmental hypoplasia of the `dental enamel` (FMA:55629)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006283 name: Multiple unerupted teeth def: "The presence of multiple embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier] is_a: HP:0000706 ! Unerupted tooth [Term] id: HP:0006285 name: Hypomineralization of enamel alt_id: HP:0006359 def: "A decreased amount of enamel mineralization." [HPO:probinson] synonym: "Decreased enamel mineralisation" EXACT [] xref: UMLS:C1837863 "Decreased enamel mineralisation" is_a: HP:0000682 ! Abnormality of dental enamel property_value: HP:0040005 "A `decreased amount` (PATO:0001997) of `enamel mineralization` (GO:0070166)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006286 name: Yellow-brown discoloration of the teeth is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0006288 name: Advanced eruption of teeth alt_id: HP:0006317 def: "Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age." [HPO:ibailleulforestier, pmid:19125428] comment: There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. synonym: "Eruption, advanced" EXACT [] synonym: "Premature eruption of teeth" EXACT [] synonym: "Premature tooth eruption" EXACT [] xref: UMLS:C0266054 "Premature tooth eruption" is_a: HP:0006292 ! Abnormality of dental eruption property_value: HP:0040005 "`Premature` (PATO:0000694) `tooth eruption` (MeSH:D014078), which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age." xsd:string {xref="HPO:ibailleulforestier", xref="pmid:19125428"} [Term] id: HP:0006289 name: Agenesis of central incisor alt_id: HP:0006320 def: "Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor." [HPO:ibailleulforestier] synonym: "Absent central incisor" EXACT [] synonym: "Absent central incisors" RELATED [] synonym: "Missing central incisors" RELATED [] xref: UMLS:C1855000 "Absent central incisor" is_a: HP:0006485 ! Agenesis of incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of one or more central incisors, i.e., of `lower secondary incisor` (FMA:55713), `lower primary incisor` (FMA:84215), `upper secondary incisor` (FMA:55712), or of `upper central primary incisor` (FMA:84216)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006290 name: Discolored lateral incisors def: "The presence of discolored lateral incisors." [HPO:ibailleulforestier] xref: UMLS:C1866510 "Discolored lateral incisors" is_a: HP:0011063 ! Abnormality of incisor morphology property_value: HP:0040005 "The presence of `discolored` (PATO:0000331) lateral incisors." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006291 name: Marked delay in eruption of permanent teeth is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0006292 name: Abnormality of dental eruption def: "An abnormality of tooth eruption." [HPO:ibailleulforestier] comment: The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars. synonym: "Abnormal dental eruption" EXACT [] xref: UMLS:C1859363 "Abnormal dental eruption" is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "An abnormality of `tooth eruption` (MeSH:D014078)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006293 name: Agenesis of maxillary central incisor def: "Agenesis of upper secondary incisor or of upper central primary incisor." [HPO:ibailleulforestier] is_a: HP:0006289 ! Agenesis of central incisor is_a: HP:0200160 ! Agenesis of maxillary incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of `upper secondary incisor` (FMA:55712) or of `upper central primary incisor` (FMA:84216)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006297 name: Hypoplasia of dental enamel alt_id: HP:0000671 alt_id: HP:0001565 alt_id: HP:0003770 def: "Developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier, pmid:18499550] comment: Note that the term enamel dysplasia was previously used for this feature but is no longer recommended. synonym: "Dental enamel hypoplasia" EXACT [] synonym: "Enamel dysplasia" RELATED [] synonym: "Enamel hypoplasia" EXACT [] synonym: "Thin dental enamel" BROAD [] xref: MeSH:D003744 "Dental Enamel Hypoplasia" xref: UMLS:C1851854 "Thin dental enamel" is_a: HP:0000682 ! Abnormality of dental enamel is_a: HP:0000685 ! Hypoplasia of teeth property_value: HP:0040005 "Developmental hypoplasia of the `dental enamel` (FMA:55629)." xsd:string {xref="HPO:ibailleulforestier", xref="pmid:18499550"} [Term] id: HP:0006298 name: Prolonged bleeding after dental extraction def: "Prolonged bleeding post dental extraction sufficient to require medical intervention." [HPO:probinson, WWW:wouwehand] is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0006302 name: Dagger-shaped pulp calcifications def: "Dagger-shaped calcifications in the dental pulp." [HPO:ibailleulforestier] xref: UMLS:C1859821 "Dagger-shaped pulp calcifications" is_a: HP:0006479 ! Abnormality of the dental pulp property_value: HP:0040005 "Dagger-shaped calcifications in the `dental pulp` (FMA:55631)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006304 name: Widely-spaced incisors is_a: HP:0011062 ! Misalignment of incisors [Term] id: HP:0006308 name: Atrophy of alveolar ridges is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006311 name: Generalized microdontia def: "A generalized form of microdontia." [HPO:ibailleulforestier] xref: UMLS:C0399367 "MICRODONTIA, GENERALIZED" is_a: HP:0000691 ! Microdontia property_value: HP:0040005 "A generalized form of `microdontia` (HP:0000691)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006313 name: Widely spaced primary teeth def: "Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia." [HPO:ibailleulforestier] synonym: "Widely spaced deciduous teeth" EXACT [] xref: UMLS:C1855414 "Widely spaced teeth" is_a: HP:0000687 ! Widely spaced teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006315 name: Single median maxillary incisor alt_id: HP:0001568 alt_id: HP:0001573 alt_id: HP:0006356 def: "The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor." [pmid:19125428] comment: If a single maxillary central incisor is present but not positioned in the midline, this could be hypodontia, but this cannot be evaluated without a radiograph. subset: hposlim_core synonym: "Single central incisor" EXACT [] synonym: "Single central upper incisor" EXACT [] synonym: "Single maxillary central incisor" EXACT [] synonym: "Single median incisor" EXACT [] synonym: "Single median maxillary central incisor" EXACT [] xref: MeSH:C537342 "Single upper central incisor" xref: UMLS:C1840235 "Single maxillary central incisor" is_a: HP:0011064 ! Abnormal number of incisors property_value: HP:0040005 "The presence of a single, median maxillary incisor, affecting both the `primary maxillary incisor` (FMA:84214) and the `permanent maxillary incisor` (FMA:55712)." xsd:string {xref="pmid:19125428"} [Term] id: HP:0006316 name: Irregularly spaced teeth alt_id: HP:0009081 def: "Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth." [HPO:ibailleulforestier] xref: UMLS:C1845878 "Irregularly spaced teeth" is_a: HP:0000692 ! Misalignment of teeth property_value: HP:0040005 "Irregular distribution of the teeth along the dental arch, i.e., and `irregular spatial pattern ` (PATO:0000330) of `teeth` (FMA:12516)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006321 name: Multiple non-erupting secondary teeth xref: UMLS:C1848904 "Multiple non-erupting secondary teeth" is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0006323 name: Premature loss of primary teeth alt_id: HP:0006319 alt_id: HP:0006351 def: "Loss of the primary (also known as deciduous) teeth before the usual age." [HPO:sdoelken] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. subset: hposlim_core synonym: "Premature deciduous tooth loss" EXACT [] synonym: "Premature loss of deciduous teeth" EXACT [] is_a: HP:0006480 ! Premature loss of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006326 name: Buried teeth encased in mucopolysaccharide is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0006329 name: Alveolar process hypoplasia alt_id: HP:0006312 def: "Underdevelopment of the alveolar process (also known as alveolar bone)." [HPO:probinson] comment: The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla. synonym: "Hypoplastic alveolar bone" EXACT [] xref: UMLS:C1848905 "Alveolar process hypoplasia" is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006330 name: Rotated maxillary central incisors is_a: HP:0000676 ! Abnormality of the incisor [Term] id: HP:0006332 name: Supernumerary maxillary incisor def: "The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor." [HPO:ibailleulforestier] is_a: HP:0011064 ! Abnormal number of incisors is_a: HP:0011069 ! Increased number of teeth property_value: HP:0040005 "The presence of a `supernumerary` (PATO:0000470), i.e., extra, maxillary incisor, either the `primary maxillary incisor` (FMA:84214) or the `permanent maxillary incisor` (FMA:55712)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006333 name: Crowded maxillary incisors def: "A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor." [HPO:ibailleulforestier] synonym: "Crowded upper incisors" EXACT [] is_a: HP:0011062 ! Misalignment of incisors property_value: HP:0040005 "A type of dental misalignment with `crowded` (PATO:0000619) central incisors, i.e., of `maxillary secondary incisor` (FMA:55712), or of `maxillary central primary incisor` (FMA:84216)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006334 name: Hypoplasia of the primary teeth alt_id: HP:0006318 def: "Developmental hypoplasia of the primary teeth." [HPO:ibailleulforestier] synonym: "Hypoplastic deciduous teeth" EXACT [] xref: UMLS:C1855694 "Hypoplastic deciduous teeth" is_a: HP:0000685 ! Hypoplasia of teeth is_a: HP:0006481 ! Abnormality of primary teeth property_value: HP:0040005 "Developmental hypoplasia of the `primary teeth` (FMA:55655)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006335 name: Persistence of primary teeth alt_id: HP:0003772 alt_id: HP:0006299 alt_id: HP:0006305 alt_id: HP:0006341 alt_id: HP:0006354 def: "Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth." [HPO:ibailleulforestier] comment: The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars. synonym: "Deciduous teeth retention" EXACT [] synonym: "Delayed loss of primary teeth" EXACT [] synonym: "Persistence of deciduous teeth" EXACT [] synonym: "Persistent primary dentition" EXACT [] synonym: "Persistent primary teeth" EXACT [] synonym: "Retained deciduous teeth" EXACT [] xref: UMLS:C0266050 "Persistent primary teeth" is_a: HP:0006292 ! Abnormality of dental eruption is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006336 name: Short dental roots def: "Short dental root." [HPO:probinson] synonym: "Underdeveloped dental roots" EXACT [] is_a: HP:0006486 ! Abnormality of the dental root property_value: HP:0040005 "`Short` (PATO:0000574) `dental root` (FMA:55624)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006337 name: Premature eruption of permanent teeth def: "Premature tooth eruption of the permanent dentition." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Advanced tooth eruption" EXACT [] synonym: "Precocious eruption of secondary teeth" EXACT [] xref: SNOMEDCT:16000003 "Premature tooth eruption" xref: UMLS:C0266054 "Premature tooth eruption" is_a: HP:0006288 ! Advanced eruption of teeth property_value: HP:0040005 "`Premature` (PATO:0000694) `tooth eruption` (MeSH:D014078) of the `permanent dentition` (FMA:55654)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006338 name: Malformation of mandibular premolar def: "An abnormality of themorphology of secondary premolar tooth." [HPO:ibailleulforestier] is_a: HP:0011080 ! Abnormality of premolar morphology property_value: HP:0040005 "An abnormality of the`morphology` (PATO:0000051) of `secondary premolar tooth` (FMA:55717)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006339 name: Conical mandibular incisor def: "An abnormal conical morphology of the primary or permanent mandibular incisors." [HPO:ibailleulforestier] synonym: "Pointed mandibular incisors" RELATED [] is_a: HP:0011065 ! Conical incisor property_value: HP:0040005 "An abnormal `conical` (PATO:0002021) morphology of the primary or permanent mandibular incisors." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006342 name: Peg-shaped maxillary lateral incisors def: "Peg-shaped upper lateral secondary incisor tooth." [HPO:ibailleulforestier] is_a: HP:0011065 ! Conical incisor property_value: HP:0040005 "Peg-shaped `upper lateral secondary incisor tooth` (FMA:55724)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006344 name: Abnormality of primary molar morphology def: "An abnormality of morphology of primary molar." [HPO:ibailleulforestier] is_a: HP:0006481 ! Abnormality of primary teeth is_a: HP:0011070 ! Abnormality of molar morphology property_value: HP:0040005 "An abnormality of `morphology` (PATO:0000051) of `primary molar` (FMA:84206)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006346 name: Screwdriver-shaped incisors def: "An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape." [HPO:ibailleulforestier] is_a: HP:0011063 ! Abnormality of incisor morphology property_value: HP:0040005 "An abnormality of `morphology` (PATO:0000051) of the `incisor tooth` (FMA:12823) in which the tooth is shaped like a screwdriver blade, i.e., having a `rhomboid` (PATO:0001938) shape." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006347 name: Microdontia of primary teeth def: "Decreased size of the primary teeth." [HPO:ibailleulforestier] synonym: "Small deciduous teeth" EXACT [] xref: UMLS:C1856203 "Small deciduous teeth" is_a: HP:0000691 ! Microdontia is_a: HP:0006481 ! Abnormality of primary teeth property_value: HP:0040005 "`Decreased size` (PATO:0000587) of the `primary teeth` (FMA:55637)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006349 name: Agenesis of permanent teeth alt_id: HP:0000681 alt_id: HP:0006287 def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth." [HPO:probinson] synonym: "Absence of permanent teeth" EXACT [] synonym: "Absent permanent teeth" EXACT [] synonym: "Missing teeth" EXACT [] xref: UMLS:C0080233 "Missing teeth" is_a: HP:0009804 ! Reduced number of teeth is_a: HP:0011044 ! Abnormal number of permanent teeth property_value: HP:0040005 "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of `permanent teeth` (FMA:55654)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006350 name: Obliteration of the pulp chamber def: "Obliteration of the pulp chambers owing to mineralization of the dental pulp." [pmid:162890] synonym: "Crescent/chevron-shaped pulp chambers" RELATED [] is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006352 name: Failure of eruption of permanent teeth alt_id: HP:0006309 def: "Lack of tooth eruption of the secondary dentition." [HPO:ibailleulforestier] is_a: HP:0000706 ! Unerupted tooth property_value: HP:0040005 "Lack of `tooth eruption` (MeSH:D014078) of the `secondary dentition` (FMA:55654)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006353 name: Hypoplasia of the tooth germ def: "Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth." [HPO:ibailleulforestier] synonym: "Hypoplastic tooth buds" RELATED [] xref: UMLS:C1969284 "Hypoplastic tooth buds" is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006355 name: Agenesis of mandibular central incisor def: "Agenesis of lower secondary incisor or lower primary incisor." [HPO:ibailleulforestier] is_a: HP:0006289 ! Agenesis of central incisor is_a: HP:0200161 ! Agenesis of mandibular incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of `lower secondary incisor` (FMA:55713) or `lower primary incisor` (FMA:84215)." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006357 name: Premature loss of permanent teeth def: "Premature loss of the permanent teeth." [HPO:ibailleulforestier] synonym: "Premature loss of secondary teeth" EXACT [] is_a: HP:0006480 ! Premature loss of teeth property_value: HP:0040005 "`Premature` (PATO:0000694) loss of the permanent teeth." xsd:string {xref="HPO:ibailleulforestier"} [Term] id: HP:0006358 name: Shovel-shaped maxillary central incisors def: "Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors." [pmid:2212205] xref: UMLS:C1833168 "Shovel-shaped maxillary central incisors" is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006361 name: Irregular femoral epiphyses xref: UMLS:C1850658 "Irregular femoral epiphyses" is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0006362 name: Varus deformity of humeral neck is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0006366 name: Adductor longus contractures xref: UMLS:C1859524 "Adductor longus contractures" is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0006367 name: Crumpled long bones def: "An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta." [HPO:probinson] xref: UMLS:C1833766 "Broad crumpled long bones" is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0006368 name: Forearm reduction defects xref: UMLS:C1849327 "Forearm reduction defects" is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0006369 name: Irregular patellae alt_id: HP:0006458 def: "An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour." [HPO:probinson] synonym: "Irregular patellar contour" EXACT [] synonym: "Irregular patellar margins" EXACT [] xref: UMLS:C1836870 "Irregular patellar margins" is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006370 name: Distal ulnar epiphyseal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna." [HPO:probinson] synonym: "Distal ulnar epiphyseal calcifications" EXACT [] is_a: HP:0010600 ! Abnormality of the distal ulnar epiphysis is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0040073 ! Abnormal morphology of forearm bone [Term] id: HP:0006371 name: Broad long bone diaphyses def: "Increased width of the diaphysis of long bones." [HPO:probinson] is_a: HP:0006504 ! Anomaly of the limb diaphyses [Term] id: HP:0006375 name: Dumbbell-shaped femur def: "The femur is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] is_a: HP:0000947 ! Dumbbell-shaped long bone is_a: HP:0002823 ! Abnormality of the femur property_value: HP:0040005 "The `femur` (FMA:9611) is shortened and displays flaring (widening) of the metaphyses." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006376 name: Limited elbow flexion xref: UMLS:C1856922 "Limited elbow flexion" is_a: HP:0005060 ! limited elbow flexion/extension [Term] id: HP:0006378 name: Osteolysis of patellae is_a: HP:0003045 ! Abnormality of the patella is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs [Term] id: HP:0006379 name: Proximal tibial hypopolasia comment: Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia' xref: UMLS:C1856029 "Proximal tibial hypopolasia" is_a: HP:0005736 ! Short tibia [Term] id: HP:0006380 name: Knee flexion contracture alt_id: HP:0002978 def: "A bent (flexed) knee joint that cannot be straightened actively or passively." [HPO:probinson] subset: hposlim_core synonym: "Contractures of knees" EXACT [] synonym: "Contractures of the knees" EXACT [] synonym: "Flexion contracture of knees" EXACT [] synonym: "FLEXION CONTRACTURES AT BOTH KNEES" EXACT [HPO:skoehler] synonym: "Flexion contractures of knees" EXACT [] synonym: "Flexion deformity of the knee" EXACT [] synonym: "Knee contracture" EXACT [] synonym: "Knee contractures" EXACT [] synonym: "Knee flexion contractures" EXACT [] synonym: "Knee flexion deformity" EXACT [] xref: UMLS:C0581324 "Knee flexion deformities" xref: UMLS:C1837263 "Knee contractures" is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0006381 name: Rudimentary fibula alt_id: HP:0004986 def: "Absent or nearly absent fibula. (Does not include aplastic)" [] synonym: "Rudimentary to absent fibulae" EXACT [] synonym: "Small to absent fibula" EXACT [] xref: UMLS:C1855279 "Rudimentary fibula" is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006383 name: Progressive bowing of long bones def: "Progressive bending or abnormal curvature of a long bone." [HPO:probinson] is_a: HP:0006487 ! Bowing of the long bones property_value: HP:0040005 "Progressive bending or abnormal curvature of a `long bone` (FMA:7474)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006384 name: Club-shaped distal femur alt_id: HP:0006447 synonym: "Club-shaped distal femora" EXACT [] xref: UMLS:C1857505 "Club-shaped distal femora" is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006385 name: Short lower limbs alt_id: HP:0003054 def: "Shortening of the legs related to developmental hypoplasia of the bones of the leg." [HPO:probinson] subset: hposlim_core synonym: "Short legs" EXACT [] xref: UMLS:C0426901 "Short legs" xref: UMLS:C1855192 "Short lower limbs" is_a: HP:0009816 ! Lower limb undergrowth [Term] id: HP:0006386 name: Hypoplastic distal radial epiphyses def: "Underdevelopment of the distal epiphysis of the radius." [HPO:curators] xref: UMLS:C1969286 "Hypoplastic distal radial epiphyses" is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006387 name: Wide distal femoral metaphysis def: "Increased width of the distal part of the shaft (metaphysis) of the femur." [HPO:probinson] synonym: "Wide distal metaphysis of femur" EXACT [] is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006389 name: Limited knee flexion xref: UMLS:C1839512 "Limited knee flexion" is_a: HP:0005085 ! limited knee flexion/extension [Term] id: HP:0006390 name: Anterior tibial bowing def: "An abnormal anterior bending or curvature of the tibia." [HPO:probinson] synonym: "Anterior bowing of tibia" EXACT [] is_a: HP:0002982 ! Tibial bowing property_value: HP:0040005 "An abnormal anterior bending or curvature of the `tibia` (FMA:24476)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006391 name: Overtubulated long bones def: "Overconstriction, or narrowness of the diaphysis and metaphysis of long bones." [HPO:probinson] xref: UMLS:C1848769 "Overtubulated long bones" is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0006392 name: Increased density of long bones def: "An abnormal increase in the bone density of the long bones." [HPO:curators] is_a: HP:0011001 ! Increased bone mineral density is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0006394 name: Limited pronation/supination of forearm def: "A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation)." [HPO:probinson] subset: hposlim_core is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0006397 name: Lateral displacement of patellae is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006398 name: Flat distal femoral epiphysis def: "An abnormal flattening of the 'Distal epiphysis of femur." [HPO:sdoelken] synonym: "Flattened distal femoral epiphyses" EXACT [] is_a: HP:0003071 ! Flattened epiphyses is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis property_value: HP:0040005 "An abnormal flattening of the 'Distal epiphysis of femur` (FMA:32822)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0006400 name: Absent knee epiphyses xref: UMLS:C1859462 "Absent knee epiphyses" is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0010577 ! Absent epiphyses [Term] id: HP:0006402 name: Distal shortening of limbs is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0006406 name: Club-shaped proximal femur is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006407 name: Irregular distal femoral epiphysis def: "Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular." [HPO:probinson] is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis property_value: HP:0040005 "Anomaly of the contour of the `Distal epiphysis of femur` (FMA:32844) such that its normally smooth appearance is irregular." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006408 name: Distal tapering femur is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006409 name: Progressive leg bowing def: "Progressive bending or abnormal curvature of the leg." [HPO:probinson] is_a: HP:0006383 ! Progressive bowing of long bones [Term] id: HP:0006413 name: Broad tibial metaphyses is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006414 name: Distal tibial bowing def: "A bending or abnormal curvature of the distal portion of the tibia." [HPO:probinson] synonym: "Bowing of the distal tibia" EXACT [] synonym: "Tibial bowing at ankle" EXACT [] is_a: HP:0002982 ! Tibial bowing is_a: HP:0003028 ! Abnormality of the ankles property_value: HP:0040005 "A bending or abnormal curvature of the distal portion of the `tibia` (FMA:24476)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006415 name: Cortically dense long tubular bones def: "Increased density of the compact bone of long bone." [HPO:probinson] comment: Note that compact bone and cortical bone are synonymous. xref: UMLS:C1849276 "Cortically dense long tubular bones" is_a: HP:0000935 ! Thickened cortex of long bones property_value: HP:0040005 "Increased density of the `compact bone of long bone` (FMA:32674)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006417 name: Broad femoral metaphyses xref: UMLS:C1864854 "Broad femoral metaphyses" is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006420 name: Asymmetric radial dysplasia def: "The presence of asymmetric developmental dysplasia of the radius." [HPO:probinson] xref: UMLS:C1969396 "Asymmetric radial dysplasia" is_a: HP:0006433 ! Dysplastic radii property_value: HP:0040005 "The presence of `asymmetric` (PATO:0000616) `developmental dysplasia` (MPATH:64) of the `radius` (FMA:23463)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006423 name: Peg-like central prominence of distal tibial metaphyses is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006424 name: Elongated radius def: "Increased length of the radius." [HPO:probinson] is_a: HP:0045009 ! Abnormal morphology of the radius property_value: HP:0040005 "Increased length of the `radius` (FMA:23463)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006426 name: Rudimentary to absent tibiae is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0006429 name: Broad femoral neck alt_id: HP:0003369 alt_id: HP:0003372 alt_id: HP:0008781 alt_id: HP:0008782 alt_id: HP:0008836 def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] synonym: "Broadening of femoral neck" EXACT [] synonym: "Wide femoral neck" EXACT [] synonym: "Widened femoral necks" EXACT [] xref: UMLS:C1836590 "Broad femoral neck" is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0006431 name: Metaphyseal abnormalities of distal and proximal femurs is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006432 name: Trapezoidal distal femoral condyles xref: UMLS:C1843983 "Trapezoidal distal femoral condyles" is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006433 name: Dysplastic radii is_a: HP:0003330 ! Abnormal bone structure is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0006434 name: Hypoplasia of proximal radius alt_id: HP:0006365 def: "Proximal radial shortening owing to a congenital defect of development." [HPO:probinson] synonym: "Proximal radial shortening" EXACT [] xref: UMLS:C1866691 "Proximal radial shortening" is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0006436 name: Shortening of the tibia alt_id: HP:0006445 synonym: "Marked shortening of tibia" EXACT [] is_a: HP:0005736 ! Short tibia [Term] id: HP:0006437 name: Disproportionate prominence of the femoral medial condyle is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006438 name: Enlargement of the distal femoral epiphysis def: "An abnormal enlargement of the distal epiphysis of the femur." [HPO:probinson] synonym: "Large distal femoral epiphyses" EXACT [] xref: UMLS:C1843105 "Large distal femoral epiphyses" is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis property_value: HP:0040005 "An abnormal enlargement of the `distal epiphysis of the femur` (FMA:32844)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006439 name: Radioulnar dislocation alt_id: HP:0003972 synonym: "Dislocated radioulnar joints" EXACT [] xref: UMLS:C0012691 "Dislocation" is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0006440 name: Increased density of long bone diaphyses is_a: HP:0006392 ! Increased density of long bones is_a: HP:0006504 ! Anomaly of the limb diaphyses [Term] id: HP:0006441 name: Lateral humeral condyle aplasia xref: UMLS:C1833878 "Lateral humeral condyle aplasia" is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0006442 name: Hypoplasia of proximal fibula is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006443 name: Patellar aplasia alt_id: HP:0003046 alt_id: HP:0006475 def: "Absence of the patella." [HPO:probinson] subset: hposlim_core synonym: "Absent patella" EXACT [] synonym: "Absent patellae" EXACT [] synonym: "Absent patellas" EXACT [] synonym: "Aplastic patellae" EXACT [] xref: SNOMEDCT:309244002 "Absent patella" xref: SNOMEDCT:6688006 "Congenital absence of patella" xref: UMLS:C0586734 "Absent patella" xref: UMLS:C1868578 "Patellar aplasia" is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0006446 name: Dysplastic patella xref: UMLS:C1849580 "Dysplastic patella" is_a: HP:0003045 ! Abnormality of the patella is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0006449 name: Distal radial epiphyseal osteolysis xref: UMLS:C1850145 "Distal radial epiphyseal osteolysis" is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006450 name: Multicentric ossification of proximal femoral epiphyses is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0006453 name: Lateral displacement of the femoral head def: "A developmental anomaly with lateral displacement of the femoral head." [HPO:probinson] synonym: "Laterally displaced femoral heads" EXACT [] is_a: HP:0003368 ! Abnormality of the femoral head property_value: HP:0040005 "A developmental anomaly with lateral displacement of the `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006454 name: Delayed patellar ossification def: "Formation of bone in the patella later than normal." [HPO:probinson, pmid:6729496] comment: The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (pmid:6729496). synonym: "Delayed patellae ossification" EXACT [] xref: UMLS:C1863744 "Severely delayed patellae ossification" is_a: HP:0003045 ! Abnormality of the patella is_a: HP:0003336 ! Abnormal enchondral ossification [Term] id: HP:0006456 name: Irregular proximal tibial epiphyses def: "Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular." [HPO:probinson] is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis [Term] id: HP:0006459 name: Dorsal subluxation of ulna def: "Partial dislocation of the ulna in the dorsal direction." [HPO:curators] is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0006460 name: Increased laxity of ankles is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0006461 name: Proximal femoral epiphysiolysis alt_id: HP:0003000 def: "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." [HPO:probinson] synonym: "Slipped capilal femoral epiphysis" EXACT [] synonym: "Slipped capital femoral epiphyses" EXACT [] xref: UMLS:C0149887 "Proximal femoral epiphysiolysis" is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head property_value: HP:0040005 "Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the `proximal epiphysis of the femur` (FMA:32841) onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006462 name: Generalized bone demineralization def: "A generalized decrease in bone mineral density." [HPO:curators] comment: The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future. xref: UMLS:C1833326 "Generalized bone demineralization" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0006463 name: Rickets of the lower limbs is_a: HP:0002748 ! Rickets is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0006465 name: Periosteal thickening of long tubular bones def: "Thickening of the periosteum of long bone." [HPO:probinson] is_a: HP:0011314 ! Abnormality of long bone morphology property_value: HP:0040005 "Thickening of the `periosteum of long bone` (FMA:32677)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006466 name: Ankle contracture alt_id: HP:0004985 alt_id: HP:0006403 def: "A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle." [HPO:probinson] synonym: "Ankle contractures" EXACT [] synonym: "Contractures of the ankles" EXACT [] synonym: "Knee and ankle contractures" EXACT [] xref: UMLS:C1837407 "Ankle contracture" is_a: HP:0003028 ! Abnormality of the ankles is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0006467 name: Limited shoulder movement def: "A limitation of the range of movement of the shoulder joint." [HPO:probinson] subset: hposlim_core xref: UMLS:C1851313 "Limited shoulder movement" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006470 name: Thin long bone diaphyses def: "Decreased width of the diaphysis of long bones." [HPO:probinson] synonym: "Thin diaphyses of long bones" EXACT [] is_a: HP:0006504 ! Anomaly of the limb diaphyses [Term] id: HP:0006471 name: Fixed elbow flexion is_a: HP:0005060 ! limited elbow flexion/extension [Term] id: HP:0006473 name: Anterior bowing of long bones def: "An abnormal anterior curvature of a long bone." [HPO:probinson] is_a: HP:0006487 ! Bowing of the long bones property_value: HP:0040005 "An abnormal anterior curvature of a `long bone` (FMA:7474)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006476 name: Abnormality of the pancreatic islet cells alt_id: HP:0100567 def: "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [HPO:probinson] is_a: HP:0012093 ! Abnormality of endocrine pancreas physiology created_by: peter creation_date: 2008-03-28T04:41:00Z [Term] id: HP:0006477 name: Abnormality of the alveolar ridges def: "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [HPO:probinson] synonym: "Defect in alveolar ridge" EXACT [] is_a: HP:0000163 ! Abnormality of the oral cavity created_by: peter creation_date: 2008-03-28T04:44:00Z [Term] id: HP:0006479 name: Abnormality of the dental pulp def: "An abnormality of the dental pulp." [HPO:ibailleulforestier] is_a: HP:0011061 ! Abnormality of dental structure property_value: HP:0040005 "An abnormality of the `dental pulp` (FMA:55631)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2008-03-28T04:46:00Z [Term] id: HP:0006480 name: Premature loss of teeth alt_id: HP:0000701 alt_id: HP:0001564 alt_id: HP:0006343 def: "Premature loss of teeth not related to trauma or neglect." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Early tooth loss" EXACT [] synonym: "Loss of teeth" EXACT [] synonym: "Premature teeth loss" EXACT [] synonym: "Premature tooth loss" EXACT [] xref: SNOMEDCT:42756003 "Premature tooth loss" xref: UMLS:C0232513 "Premature tooth loss" is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "`Premature` (PATO:0000694) loss of teeth not related to trauma or neglect." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2008-03-28T05:03:00Z [Term] id: HP:0006481 name: Abnormality of primary teeth def: "Any abnormality of the primary tooth." [HPO:ibailleulforestier] comment: Primary teeth are also called temporary teeth or deciduous teeth. synonym: "Abnormality of deciduous teeth" EXACT [] is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "Any abnormality of the `primary tooth` (FMA:55655)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2008-03-28T05:40:00Z [Term] id: HP:0006482 name: Abnormality of dental morphology alt_id: HP:0000697 def: "An abnormality of the morphology of the tooth." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Abnormally shaped teeth" EXACT [] synonym: "Malformed teeth" EXACT [] synonym: "Misshapen teeth" EXACT [] synonym: "Misshapened teeth" EXACT [] xref: UMLS:C1857062 "Misshapen teeth" is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "An abnormality of the `morphology` (PATO:0000051) of the `tooth` (FMA:12516)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2008-03-28T05:41:00Z [Term] id: HP:0006483 name: Abnormal number of teeth def: "The presence of an altered number of of teeth." [HPO:ibailleulforestier] comment: Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "The presence of an `altered number of`(PATO:0002083) of `teeth` (FMA:12516)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2008-03-28T05:44:00Z [Term] id: HP:0006485 name: Agenesis of incisor def: "Agenesis of incisor." [HPO:probinson] comment: Failure of one or more incisors to develop. synonym: "Absence of incisors" RELATED [] synonym: "Missing incisors" RELATED [] is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011064 ! Abnormal number of incisors property_value: HP:0040005 "`Agenesis` (MPATH:57) of `incisor` (FMA:12823)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-28T05:49:00Z [Term] id: HP:0006486 name: Abnormality of the dental root def: "An abnormality of the dental root." [HPO:ibailleulforestier] is_a: HP:0006482 ! Abnormality of dental morphology property_value: HP:0040005 "An abnormality of the `dental root` (FMA:55624)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2008-03-28T05:52:00Z [Term] id: HP:0006487 name: Bowing of the long bones alt_id: HP:0002976 alt_id: HP:0005087 alt_id: HP:0005908 alt_id: HP:0006404 alt_id: HP:0006451 alt_id: HP:0006452 def: "A bending or abnormal curvature of a long bone." [HPO:probinson] comment: Curvatures of a long bone such as femur, tibia, or fibula. synonym: "Bowed long bones" EXACT [] synonym: "Bowing of long bones" EXACT [] synonym: "Camptomelia" EXACT [] synonym: "Diaphyseal bowing" EXACT [] synonym: "Diaphyseal bowing of long bones" EXACT [] is_a: HP:0006504 ! Anomaly of the limb diaphyses is_a: HP:0011314 ! Abnormality of long bone morphology property_value: HP:0040005 "A bending or abnormal curvature of a `long bone` (FMA:7474)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-28T05:56:00Z [Term] id: HP:0006488 name: Bowing of the arm def: "A bending or abnormal curvature affecting a long bone of the arm." [HPO:probinson] is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006487 ! Bowing of the long bones property_value: HP:0040005 "A bending or abnormal curvature affecting a `long bone` (FMA:7474) of the arm." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-28T05:57:00Z [Term] id: HP:0006489 name: Abnormality of the femoral metaphysis def: "An anomaly of the femoral metaphysis." [HPO:probinson] is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0006490 ! Abnormality of lower-limb metaphyses property_value: HP:0040005 "An anomaly of the `femoral metaphysis` (FMA:32875)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006490 name: Abnormality of lower-limb metaphyses is_a: HP:0000944 ! Abnormality of the metaphyses is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006491 name: Abnormality of the tibial metaphysis is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0006490 ! Abnormality of lower-limb metaphyses created_by: peter creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006492 name: Aplasia/Hypoplasia of the fibula alt_id: HP:0005672 alt_id: HP:0006421 def: "Absence or underdevelopment of the fibula." [HPO:curators] synonym: "Fibular aplasia/hypoplasia" EXACT [] synonym: "Hypoplastic/aplastic fibulae" EXACT [] is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006493 name: Aplasia/hypoplasia involving bones of the lower limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the lower limbs." [HPO:probinson] is_a: HP:0009825 ! Aplasia involving bones of the extremities is_a: HP:0040069 ! Abnormality of lower limb bone created_by: peter creation_date: 2008-03-28T06:04:00Z [Term] id: HP:0006494 name: Aplasia/Hypoplasia involving bones of the feet is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:08:00Z [Term] id: HP:0006495 name: Aplasia/Hypoplasia of the ulna alt_id: HP:0005097 alt_id: HP:0006372 alt_id: HP:0006410 def: "Absence or underdevelopment of the ulna." [HPO:curators] synonym: "Absent-hypoplastic ulnae" EXACT [] synonym: "Hypoplasia or unilateral/bilateral absence of ulna" EXACT [] synonym: "ulnar hypoplasia/aplasia" EXACT [] xref: UMLS:C1862432 "Absent-hypoplastic ulnae" is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones created_by: peter creation_date: 2008-03-28T06:15:00Z [Term] id: HP:0006496 name: Aplasia/hypoplasia involving bones of the upper limbs def: "Absence (due to failure to form) or underdevelopment of the bones of the upper limbs." [HPO:probinson] is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009825 ! Aplasia involving bones of the extremities created_by: peter creation_date: 2008-03-28T06:16:00Z [Term] id: HP:0006498 name: Aplasia/Hypoplasia of the patella alt_id: HP:0005006 alt_id: HP:0005027 alt_id: HP:0005702 alt_id: HP:0005729 alt_id: HP:0006374 def: "Absence or underdevelopment of the patella." [HPO:curators] synonym: "Absent or hypoplastic patellae" EXACT [] synonym: "Absent/hypoplastic patella" EXACT [] synonym: "Aplastic or hypoplastic patellae" EXACT [] synonym: "Hypoplastic or absent patella" EXACT [] synonym: "Patellar aplasia/hypoplasia" EXACT [] synonym: "Small to absent patellae" EXACT [] is_a: HP:0003045 ! Abnormality of the patella is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:25:00Z [Term] id: HP:0006499 name: Abnormality of femoral epiphyses alt_id: HP:0006412 alt_id: HP:0008811 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0006500 ! Abnormality involving the epiphyses of the lower limbs created_by: peter creation_date: 2008-03-28T06:28:00Z [Term] id: HP:0006500 name: Abnormality involving the epiphyses of the lower limbs is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0006505 ! Abnormality involving the epiphyses of the limbs created_by: peter creation_date: 2008-03-28T06:31:00Z [Term] id: HP:0006501 name: Aplasia/Hypoplasia of the radius alt_id: HP:0005718 def: "A small/hypoplastic or absent/aplastic radius." [HPO:probinson] synonym: "Radial aplasia/hypoplasia" EXACT [] is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones created_by: peter creation_date: 2008-03-28T06:32:00Z [Term] id: HP:0006502 name: Aplasia/Hypoplasia involving the carpal bones def: "Absence or underdevelopment of the carpal bones." [HPO:curators] is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-28T06:35:00Z [Term] id: HP:0006503 name: Aplasia/hypoplasia involving forearm bones def: "Absence (due to failure to form) or underdevelopment of one or more forearm bones." [HPO:probinson] is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone created_by: peter creation_date: 2008-03-28T06:45:00Z [Term] id: HP:0006504 name: Anomaly of the limb diaphyses def: "A structural abnormality of a diaphysis of the arm or leg." [HPO:probinson] synonym: "Abnormality involving the diaphyses of the limbs" EXACT [] is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0002813 ! Abnormality of limb bone morphology created_by: peter creation_date: 2008-03-28T06:47:00Z [Term] id: HP:0006505 name: Abnormality involving the epiphyses of the limbs is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0005930 ! Abnormality of the epiphyses created_by: peter creation_date: 2008-03-28T06:48:00Z [Term] id: HP:0006507 name: Aplasia/hypoplasia of the humerus def: "Absence (due to failure to form) or underdevelopment of the humerus." [HPO:probinson] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-29T09:15:00Z [Term] id: HP:0006508 name: Abnormality of tibial epiphyses is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0006500 ! Abnormality involving the epiphyses of the lower limbs created_by: peter creation_date: 2008-03-29T09:19:00Z [Term] id: HP:0006509 name: Diverticulosis of trachea is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0006510 name: Chronic obstructive pulmonary disease is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006511 name: Laryngeal stridor def: "An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat." [HPO:probinson] comment: The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids. synonym: "Laryngeal stidor" EXACT [] xref: UMLS:C0023066 "Laryngeal stridor" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0006514 name: Intraalveolar nodular calcifications is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0006515 name: Interstitial pneumonitis xref: UMLS:C0206061 "Pneumonitis, Interstitial" is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0006516 name: Hypersensitivity pneumonitis xref: UMLS:C0002390 "Pneumonitis, Hypersensitivity" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006517 name: Alveolar proteinosis def: "Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates." [HPO:probinson, pmid:22891182] is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006518 name: Pulmonary venoocclusive disease xref: MeSH:D011668 "Pulmonary Veno-Occlusive Disease" xref: UMLS:C0034091 "PULMONARY VENOOCCLUSIVE DISEASE" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006519 name: Alveolar cell carcinoma alt_id: HP:0006757 def: "Adenocarcinoma of the Bronchus." [HPO:probinson] xref: UMLS:C0007120 "Alveolar cell carcinoma" is_a: HP:0100552 ! Neoplasm of the tracheobronchial system [Term] id: HP:0006520 name: Progressive pulmonary function impairment xref: UMLS:C1849570 "Progressive pulmonary function impairment" is_a: HP:0005952 ! Decreased pulmonary function [Term] id: HP:0006521 name: Pulmonary lymphangiectasia alt_id: HP:0006526 alt_id: HP:0006551 def: "Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid." [HPO:probinson] synonym: "Pulmonary lymphangiectasis" EXACT [] xref: UMLS:C1855480 "Pulmonary lymphangiectasia" is_a: HP:0006529 ! Abnormal pulmonary lymphatics [Term] id: HP:0006522 name: Repeated pneumothoraces is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0006524 name: Tracheobronchial leiomyomatosis is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0006525 name: Lung segmentation defects xref: UMLS:C1839288 "Lung segmentation defects" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006527 name: Lymphoid interstitial pneumonia def: "A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells." [HPO:probinson] comment: Associated clinical manifestations often include fever, cough, and shortness of breath. synonym: "Lymphoid interstitial pneumonitis" EXACT [] xref: UMLS:C0264511 "Lymphoid interstitial pneumonia" is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0006528 name: Chronic lung disease def: "According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities." [IMM:tkuijpers] xref: UMLS:C0746102 "Chronic lung disease" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006529 name: Abnormal pulmonary lymphatics def: "An abnormality of the pulmonary lymphatic chain." [HPO:probinson] xref: UMLS:C1838011 "Abnormal pulmonary lymphatics" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: HP:0040005 "An abnormality of the `pulmonary lymphatic chain` (FMA:67999)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006530 name: Interstitial pulmonary disease alt_id: HP:0006513 alt_id: HP:0006547 def: "Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis." [HPO:probinson] synonym: "Interstitial lung disease" EXACT [] xref: MeSH:D017563 "Lung Diseases, Interstitial" xref: UMLS:C0206062 "Interstitial lung disease" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006531 name: Pleural lymphangiectasia xref: UMLS:C1856139 "Pleural lymphangiectasia" is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0006532 name: Recurrent pneumonia alt_id: HP:0002095 alt_id: HP:0002096 def: "An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia." [HPO:probinson, pmid:15750465] comment: Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences. synonym: "Multiple pulmonary infections" EXACT [] synonym: "Pneumonia, recurrent" EXACT [HPO:skoehler] synonym: "Pneumonia, recurrent episodes" EXACT [] synonym: "Pulmonary infection" EXACT [] synonym: "Pulmonary infections" EXACT [] synonym: "pulmonary infections, recurrent" EXACT [HPO:skoehler] synonym: "Recurrent pulmonary infections" EXACT [] xref: UMLS:C0694550 "recurrent pneumonia" is_a: HP:0002090 ! Pneumonia is_a: HP:0002783 ! Recurrent lower respiratory tract infections [Term] id: HP:0006533 name: Bronchodysplasia is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0006535 name: Recurrent intrapulmonary hemorrhage def: "A recurrent hemorrhage occurring within the lung." [HPO:gcarletti] is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0011029 ! Internal hemorrhage property_value: HP:0040005 "A `recurrent` (PATO:0000427) `hemorrhage` (MPATH:119) occurring within the `lung` (FMA:7195)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0006536 name: Obstructive lung disease alt_id: HP:0006512 def: "Obstruction of conducting airways of the lung." [HPO:probinson] xref: MeSH:D008173 "Lung Diseases, Obstructive" xref: UMLS:C0600260 "Disease, Obstructive Lung" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006538 name: Recurrent bronchopulmonary infections def: "An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections." [HPO:probinson] xref: UMLS:C0948783 "Bronchopulmonary infection" is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0006539 name: Bronchial cartilage hypoplasia is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0006541 name: Chronic obstructive airway disease from birth is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006543 name: Cardiorespiratory arrest xref: UMLS:C0600228 "Cardio-respiratory arrest" is_a: HP:0005943 ! Respiratory arrest [Term] id: HP:0006544 name: Extrapulmonary sequestrum def: "A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree." [HPO:probinson] comment: Extrapulmonary sequestra nearly all appear on the left side. synonym: "Diaphragmatic sequestrum" RELATED [] is_a: HP:0100632 ! Pulmonary sequestration [Term] id: HP:0006548 name: Pulmonary arteriovenous malformation alt_id: HP:0002114 alt_id: HP:0006537 synonym: "Pulmonary arteriovenous malformation (PAVM), especially lower lobes" EXACT [] synonym: "Pulmonary av malformation" EXACT [] xref: UMLS:C0241790 "Pulmonary arteriovenous malformation" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0006549 name: Unilateral primary pulmonary dysgenesis synonym: "Primary pulmonary dysgenesis, unilateral" EXACT [] is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006552 name: Fibrocystic lung disease is_a: HP:0005948 ! Cystic lung disease [Term] id: HP:0006554 name: Acute hepatic failure alt_id: HP:0006556 def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] synonym: "Acute liver failure" EXACT [] xref: MeSH:D017114 "Liver Failure, Acute" xref: UMLS:C0162557 "Liver Failure, Acute" is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006555 name: Diffuse hepatic steatosis def: "A diffuse form of hepatic steatosis." [HPO:probinson] synonym: "Hepatic steatosis, diffuse" EXACT [] is_a: HP:0001397 ! Hepatic steatosis property_value: HP:0040005 "A `diffuse` (PATO:0001513) form of `hepatic steatosis` (HP:0001397)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006557 name: Polycystic liver disease xref: UMLS:C0158683 "Polycystic liver disease" is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0006558 name: Decreased mitochondrial complex III activity in liver tissue def: "Decreased activity of complex II Of the mitochondrion in the liver." [HPO:probinson] comment: Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane. is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006559 name: Hepatic calcification def: "The presence of abnormal calcium deposition in the liver." [HPO:probinson] synonym: "Liver calcifications" EXACT [] xref: UMLS:C1837258 "Liver calcifications" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0010766 ! Ectopic calcification property_value: HP:0040005 "The presence of abnormal `calcium deposition` (MPATH:36) in the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006560 name: Biliary hyperplasia def: "Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia." [HPO:probinson] synonym: "Bile duct hyperplasia" EXACT [] is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: HP:0040005 "`Hyperplasia` (MPATH:134) of the `biliary tree` (FMA:14665), as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006561 name: Lipid accumulation in hepatocytes is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006562 name: Viral hepatitis def: "Inflammation of the liver due to infection with a virus." [HPO:probinson] xref: MeSH:D006525 "Hepatitis, Viral, Human" xref: UMLS:C1963279 "Viral hepatitis" is_a: HP:0012115 ! Hepatitis [Term] id: HP:0006563 name: Malformation of the hepatic ductal plate is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006564 name: Fluctuating hepatomegaly def: "Intermittently increased size of the liver." [HPO:probinson] is_a: HP:0002240 ! Hepatomegaly property_value: HP:0040005 "Intermittently `increased size` (PATO:0000586) of the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006565 name: Increased hepatocellular lipid droplets def: "An abnormal increase in the amount of intracellular lipid droplets in hepatocytes." [HPO:probinson] comment: Lipid droplets, rich in triglycerides and cholesterol esters, are cellular ipid storage organelles. is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0006566 name: Neonatal cholestatic liver disease xref: UMLS:C1859162 "Neonatal cholestatic liver disease" is_a: HP:0002611 ! Cholestatic liver disease [Term] id: HP:0006568 name: Increased hepatic glycogen content def: "An increase in the amount of glycogen stored in hepatocytes compared to normal." [HPO:probinson] comment: Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity. synonym: "Increased liver glycogen content" EXACT [] xref: UMLS:C1856285 "Increased liver glycogen content" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006571 name: Reduced number of intrahepatic bile ducts def: "The presence of reduced numbers of intrahepatic bile duct than normal." [HPO:probinson] synonym: "Hepatic ductopenia" EXACT [] synonym: "Intrahepatic duct deficiency" RELATED [] xref: UMLS:C1861621 "Intrahepatic duct deficiency" is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct property_value: HP:0040005 "The presence of `reduced numbers of ` (PATO:0001999) `intrahepatic bile duct` (FMA:15766) than normal." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006572 name: Subacute progressive viral hepatitis xref: UMLS:C1861901 "Subacute progressive viral hepatitis" is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0006573 name: Acute hepatic steatosis def: "An acute form of hepatic steatosis." [HPO:probinson] is_a: HP:0001397 ! Hepatic steatosis property_value: HP:0040005 "An `acute` (PATO:0000389) form of `hepatic steatosis` (HP:0001397)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006574 name: Hepatic arteriovenous malformation alt_id: HP:0006569 synonym: "Liver arteriovenous malformation" EXACT [] xref: UMLS:C0520557 "Liver arteriovenous malformation" is_a: HP:0006707 ! Abnormality of the hepatic vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0006575 name: Intrahepatic cholestasis with episodic jaundice is_a: HP:0001406 ! Intrahepatic cholestasis [Term] id: HP:0006576 name: Hepatic vascular malformations xref: UMLS:C1861790 "Hepatic vascular malformations" is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0006577 name: Macronodular cirrhosis def: "A type of cirrhosis characterized by the presence of large regenerative nodules." [HPO:probinson] comment: In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm. xref: UMLS:C2004456 "Macronodular cirrhosis" is_a: HP:0001394 ! Cirrhosis property_value: HP:0040005 "A type of `cirrhosis` (HP:0001394) characterized by the presence of large regenerative nodules." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006579 name: Prolonged neonatal jaundice alt_id: HP:0000986 def: "Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants." [HPO:probinson] synonym: "JAUNDICE, NEONATAL" RELATED [HPO:skoehler] synonym: "Neonatal jaundice" EXACT [] xref: UMLS:C1859236 "Prolonged neonatal jaundice" xref: UMLS:C2046390 "Neonatal Jaundice" is_a: HP:0000952 ! Jaundice [Term] id: HP:0006580 name: Portal fibrosis def: "Fibroblast proliferation and fiber expansion from the portal areas to the lobule." [HPO:probinson] comment: Portal fibrosis can be seen in viral hepatitis and other types of liver disease. synonym: "PORTAL FIBROSIS SHOWN ON BIOPSY" RELATED [HPO:skoehler] is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006581 name: Depletion of mitochondrial DNA in liver def: "An abnormal reduction in the number of mitochondria in hepatocytes." [HPO:probinson] is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006582 name: Reye syndrome-like episodes is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006583 name: Fatal liver failure in infancy is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006584 name: Small abnormally formed scapulae alt_id: HP:0006629 synonym: "Small abnormally formed scapula" EXACT [] xref: UMLS:C1861226 "Small abnormally formed scapula" is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006585 name: Congenital pseudoarthrosis of the clavicle alt_id: HP:0006612 alt_id: HP:0006661 def: "The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle." [HPO:probinson, pmid:22295044] comment: In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See pmid:22295044, Figure 1, for the radiographic appearance of this feature. synonym: "Bipartite clavicle" RELATED [] synonym: "Clavicle pseudoarthrosis" EXACT [] synonym: "Pseudoarthrosis of clavicle" EXACT [] xref: SNOMEDCT:249685004 "Bipartite clavicle" xref: SNOMEDCT:249690001 "Pseudoarthrosis of clavicle" xref: UMLS:C0426806 "Bipartite clavicle" xref: UMLS:C0426811 "Pseudoarthrosis of clavicle" is_a: HP:0005864 ! Pseudoarthrosis is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006587 name: Straight clavicles def: "An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved ." [HPO:probinson] is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0006589 name: Flaring of lower rib cage is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006590 name: Premature sternal synostosis def: "Prematurely closed sternal sutures." [HPO:probinson, pmid:13542801] synonym: "Prematurely closed sternal sutures" EXACT [] is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006591 name: Absent glenoid fossa def: "Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson] synonym: "Aplasia of the glenoid fossa" EXACT [] is_a: HP:0011912 ! Abnormality of the glenoid fossa property_value: HP:0040005 "Lack of development of the `glenoid fossa` (FMA:23275), also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006593 name: Anomalous rib insertion to vertebrae is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006595 name: Scapulohumeral synostosis alt_id: HP:0010792 def: "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint." [HPO:probinson] synonym: "Humero-scapulo synostosis" EXACT [] synonym: "Humeroscapular synostosis" EXACT [] synonym: "Synostosis of shoulder joint" EXACT [] xref: UMLS:C1865362 "Humero-scapulo synostosis" is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0006596 name: Restricted chest movement is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0006597 name: Diaphragmatic paralysis def: "The presence of a paralyzed diaphragm." [HPO:probinson, pmid:3612666] comment: Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue. xref: UMLS:C0035232 "Diaphragmatic Paralysis" is_a: HP:0009113 ! Diaphragmatic weakness property_value: HP:0040005 "The presence of a `paralyzed` (PATO:0000763) `diaphragm` (FMA:13295)." xsd:string {xref="HPO:probinson", xref="pmid:3612666"} [Term] id: HP:0006598 name: Irregular ossification at anterior rib ends is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006599 name: Medial widening of clavicles is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0006600 name: Progressive calcification of costochondral cartilage is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0006603 name: Flared, irregular rib ends is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0006606 name: Irregular chondrocostal junctions alt_id: HP:0006658 def: "Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Irregular costochondral margins" EXACT [] xref: UMLS:C1855176 "Irregular costochondral margins" xref: UMLS:C1861199 "Irregular chondrocostal junctions" is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0006607 name: Precocious costochondral ossification def: "Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage." [HPO:probinson, pmid:10489169] comment: The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients. xref: UMLS:C1849049 "Precocious costochondral ossification" is_a: HP:0000919 ! Abnormality of the costochondral junction is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0012306 ! Abnormal rib ossification property_value: HP:0040005 "Early ossification of the `costochondral junction` (FMA:7956), which is the joint between the ribs and costal cartilage in the front of the rib cage." xsd:string {xref="HPO:probinson", xref="pmid:10489169"} [Term] id: HP:0006608 name: Midclavicular hypoplasia def: "Underdevelopment of the middle portion of the clavicle." [HPO:probinson] xref: UMLS:C1844530 "Midclavicular hypoplasia" is_a: HP:0000894 ! Short clavicles [Term] id: HP:0006610 name: Wide intermamillary distance alt_id: HP:0000779 alt_id: HP:0001554 def: "A larger than usual distance between the left and right nipple." [HPO:probinson] subset: hposlim_core synonym: "Wide-spaced nipples" EXACT [] synonym: "Widely spaced nipples" EXACT [] synonym: "Widely-spaced nipples" EXACT [] xref: SNOMEDCT:423230008 "Wide spaced nipples" xref: UMLS:C1827524 "Wide spaced nipples" xref: UMLS:C1865006 "Widely spaced nipples" is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0006611 name: Decreased number of sternal ossification centers def: "A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms." [HPO:probinson, pmid:10204210] is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006615 name: Absent in utero rib ossification def: "Lack of formation and mineralization of the ribs in utero." [HPO:probinson] is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006619 name: Anterior rib punctate calcifications def: "Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs." [HPO:probinson] xref: UMLS:C1859120 "Anterior rib punctate calcifications" is_a: HP:0012306 ! Abnormal rib ossification is_a: HP:0040059 ! Calcification of ribs [Term] id: HP:0006623 name: Costochondral joint sclerosis def: "Abnormal increase in density of the tissue at the costochondral junctions." [HPO:probinson] synonym: "Sclerotic costochondral joints" EXACT [] is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0006625 name: Multifocal breast carcinoma def: "Breast carcinoma that is bilateral or otherwise multifocal." [HPO:probinson] synonym: "Multifocal breast cancer" EXACT [] is_a: HP:0003002 ! Breast carcinoma [Term] id: HP:0006628 name: Absent sternal ossification alt_id: HP:0006654 alt_id: HP:0006666 def: "Lack of formation of mineralized bony tissue of the sternum." [HPO:probinson] synonym: "Absent sternal mineralization" EXACT [] synonym: "Lack of sternal ossification" EXACT [] xref: UMLS:C1857666 "Absent sternal ossification" xref: UMLS:C1861926 "Absent sternal mineralization" is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006631 name: Hypoplastic distal segments of scapulae is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006633 name: Glenoid fossa hypoplasia alt_id: HP:0006632 def: "Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus." [HPO:probinson] subset: hposlim_core synonym: "Glenoid hypoplasia" EXACT [] synonym: "Hypoplastic glenoid fossa" EXACT [] xref: UMLS:C1833138 "Hypoplastic glenoid fossa" xref: UMLS:C1834384 "Glenoid hypoplasia" is_a: HP:0011912 ! Abnormality of the glenoid fossa property_value: HP:0040005 "Underdevelopment of the `glenoid fossa` (FMA:23275), which is the cavity in the lateral part of the scapula which articulates with the head of the humerus." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006634 name: Osteosclerosis of ribs def: "Osteosclerosis of ribs (increased density related to increased bone mass)." [HPO:probinson] is_a: HP:0012306 ! Abnormal rib ossification [Term] id: HP:0006637 name: Sternal punctate calcifications xref: UMLS:C1859121 "Sternal punctate calcifications" is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0006638 name: Midclavicular aplasia def: "Developmental defect resulting in congenital absence of the middle portion of the clavicle." [HPO:probinson] xref: UMLS:C1844529 "Midclavicular aplasia" is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006640 name: Multiple rib fractures def: "More than one fracture of the ribs." [HPO:probinson] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006641 name: Prominent floating ribs is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006642 name: Large sternal ossification centers xref: UMLS:C1865241 "Large sternal ossification centers" is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006643 name: Fused sternal ossification centers xref: UMLS:C1859376 "Fused sternal ossification centers" is_a: HP:0011863 ! Abnormal sternal ossification [Term] id: HP:0006644 name: Thoracic dysplasia xref: UMLS:C0334044 "Dysplasia" is_a: HP:0001547 ! Abnormality of the rib cage [Term] id: HP:0006645 name: Thin clavicles def: "Abnormally reduced diameter (cross section) of the clavicles." [HPO:probinson] is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0006646 name: Costal cartilage calcification alt_id: HP:0006662 def: "Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax." [HPO:probinson] synonym: "Cartilaginous ossification of rib" EXACT [] xref: UMLS:C1857257 "Costal cartilage calcification" is_a: HP:0012306 ! Abnormal rib ossification is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0006647 name: Congenital microthorax is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0006649 name: Costochondral pain def: "Chest wall pain in the area of the costochondral junctions." [HPO:probinson] comment: Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis. synonym: "Costochondral junction pain" EXACT [] is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0006650 name: Thickening of the lateral border of the scapula is_a: HP:0000782 ! Abnormality of the scapula [Term] id: HP:0006655 name: Rib segmentation abnormalities xref: UMLS:C1968999 "Rib segmentation abnormalities" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006657 name: Hypoplasia of first ribs alt_id: HP:0006614 alt_id: HP:0006653 synonym: "Hypoplastic first rib" EXACT [] synonym: "Hypoplastic first ribs" EXACT [] xref: UMLS:C1835151 "Hypoplastic first rib" is_a: HP:0000773 ! Short ribs [Term] id: HP:0006659 name: Internally rotated shoulders xref: UMLS:C1862491 "Internally rotated shoulders" is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006660 name: Aplastic clavicles def: "Absence of the clavicles as a developmental defect." [HPO:probinson] subset: hposlim_core synonym: "Absent clavicles" EXACT [] xref: UMLS:C1861518 "Aplastic clavicles" is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0006665 name: Coat hanger sign of ribs def: "An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger)." [HPO:probinson, pmid:12712270, pmid:21607596] comment: The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14. is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006668 name: Twelfth rib hypoplasia xref: UMLS:C1859361 "Twelfth rib hypoplasia" is_a: HP:0000773 ! Short ribs [Term] id: HP:0006670 name: Impaired myocardial contractility is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0006671 name: Paroxysmal atrial tachycardia xref: UMLS:C0030587 "Paroxysmal atrial tachycardia" is_a: HP:0004763 ! Paroxysmal supraventricular tachycardia [Term] id: HP:0006673 name: Reduced systolic function is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0006677 name: Prolonged QRS complex def: "Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec." [HPO:probinson] synonym: "Prolonged QRS complex on EKG" EXACT [] is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0006679 name: Granulomatous coronary arteritis def: "Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [HPO:probinson, pmid:937513] comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). is_a: HP:0006704 ! Abnormality of the coronary arteries is_a: HP:0012089 ! Arteritis [Term] id: HP:0006681 name: Absent atrioventricular node is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0006682 name: Ventricular extrasystoles alt_id: HP:0006678 def: "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:curators] synonym: "Premature ventricular contractions" EXACT [] xref: MeSH:D018879 "Ventricular Premature Complexes" xref: UMLS:C0151636 "VENTRICULAR EXTRASYSTOLES" is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0006683 name: Abnormal ventricular filling def: "An abnormality of filling of a ventricle with blood during diastole." [HPO:probinson] comment: Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling. is_a: HP:0001713 ! Abnormality of cardiac ventricle [Term] id: HP:0006684 name: Ventricular preexcitation with multiple accessory pathways def: "A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction." [HPO:probinson] is_a: HP:0004309 ! Ventricular preexcitation property_value: HP:0040005 "A form of `ventricular preexcitation` (HP:0004309) due to the presence of multiple accessory pathways for cardiac conduction." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006685 name: Endocardial fibrosis alt_id: HP:0005169 def: "The presence of excessive connective tissue in the endocardium." [HPO:probinson] synonym: "Endomyocardial fibrosis" EXACT [] xref: MeSH:D004719 "Endomyocardial Fibrosis" xref: UMLS:C0235970 "Endocardial fibrosis" is_a: HP:0004306 ! Abnormality of the endocardium property_value: HP:0040005 "The presence of excessive connective tissue in the `endocardium` (FMA:7280)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006687 name: Aortic tortuosity def: "Abnormal tortuous (i.e., twisted) form of the aorta." [HPO:probinson] is_a: HP:0001679 ! Abnormality of the aorta property_value: HP:0040005 "Abnormal tortuous (i.e., twisted) form of the `aorta` (FMA:3734)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006688 name: Paroxysmal tachycardia xref: MeSH:D013614 "Tachycardia, Paroxysmal" xref: UMLS:C0039236 "Tachycardia, Paroxysmal" is_a: HP:0001649 ! Tachycardia [Term] id: HP:0006689 name: Bacterial endocarditis def: "A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken] xref: MeSH:D004697 "Endocarditis, bacterial" is_a: HP:0100584 ! Endocarditis created_by: doelkens creation_date: 2010-12-27T02:57:48Z [Term] id: HP:0006690 name: Myocardial calcification def: "Calcium deposition in the myocardium." [HPO:probinson] comment: Calcification affecting the muscle layer of the heart. xref: UMLS:C1096561 "Myocardial calcification" is_a: HP:0001713 ! Abnormality of cardiac ventricle is_a: HP:0011915 ! Cardiovascular calcification property_value: HP:0040005 "`Calcium deposition` (MPATH:36) in the `myocardium` (FMA:9462)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006691 name: Pulmonic valve myxoma is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0006692 name: Short chordae tendineae of the tricuspid valve def: "Abnormally short chordae tendineae of the tricuspid valve." [HPO:probinson] comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. is_a: HP:0001702 ! Abnormality of the tricuspid valve property_value: HP:0040005 "Abnormally short `chordae tendineae` (FMA:76527) of the tricuspid valve." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006693 name: Myocardial steatosis def: "Steatosis in the myocardium." [HPO:probinson] is_a: HP:0001713 ! Abnormality of cardiac ventricle property_value: HP:0040005 "`Steatosis` (MPATH:622) in the `myocardium` (FMA:9462)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006694 name: Early progressive calcific cardiac valvular disease is_a: HP:0005146 ! Cardiac valve calcification [Term] id: HP:0006695 name: Atrioventricular canal defect alt_id: HP:0005139 alt_id: HP:0010439 def: "A defect of the atrioventricular septum of the heart." [HPO:probinson, pmid:12632326] comment: During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal. synonym: "Atrioventricular septal defect" EXACT [] synonym: "Atrioventricular septal defect, partial" EXACT [] synonym: "Endocardial cushion defect" EXACT [] xref: UMLS:C0344783 "Atrioventricular septal defect" is_a: HP:0001671 ! Abnormality of the cardiac septa [Term] id: HP:0006696 name: Polymorphic and polytopic ventricular extrasystoles is_a: HP:0006682 ! Ventricular extrasystoles [Term] id: HP:0006698 name: Ventricular aneurysm def: "A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole." [HPO:probinson] comment: Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography. xref: UMLS:C0392464 "Ventricular aneurysm" is_a: HP:0001713 ! Abnormality of cardiac ventricle is_a: HP:0002617 ! Aneurysm [Term] id: HP:0006699 name: Ectopic supraventricular rhythms xref: UMLS:C2348376 "Ectopic Supraventricular Rhythm" is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0006702 name: Spontaneous coronary artery dissection def: "Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery without an obvious triggering factor." [HPO:probinson, pmid:20448134] xref: UMLS:C1852540 "CORONARY ARTERY DISSECTION, SPONTANEOUS" is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0006703 name: Aplasia/Hypoplasia of the lungs is_a: HP:0002088 ! Abnormality of the lung created_by: peter creation_date: 2008-03-29T03:17:00Z [Term] id: HP:0006704 name: Abnormality of the coronary arteries def: "An abnormality of the coronary arteries." [HPO:probinson] is_a: HP:0011004 ! Abnormality of the systemic arterial tree property_value: HP:0040005 "An abnormality of the `coronary arteries` (FMA:3800)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-29T03:33:00Z [Term] id: HP:0006705 name: Abnormality of the atrioventricular valves alt_id: HP:0006675 def: "An abnormality of an atrioventricular valve." [HPO:probinson] is_a: HP:0001654 ! Abnormality of the heart valves property_value: HP:0040005 "An abnormality of an `atrioventricular valve` (FMA:7233)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-29T03:34:00Z [Term] id: HP:0006706 name: Cystic liver disease is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-03-29T03:37:00Z [Term] id: HP:0006707 name: Abnormality of the hepatic vasculature def: "An abnormality of the hepatic vasculature." [HPO:probinson] is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002597 ! Abnormality of the vasculature property_value: HP:0040005 "An abnormality of the `hepatic vasculature` (FMA:73748)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-29T03:41:00Z [Term] id: HP:0006709 name: Aplasia/Hypoplasia of the nipples alt_id: HP:0006602 alt_id: HP:0006669 synonym: "Absent/rudimentary nipples" EXACT [] synonym: "Nipples absent or rudimentary" EXACT [] is_a: HP:0004404 ! Abnormality of the nipple created_by: peter creation_date: 2008-03-29T03:51:00Z [Term] id: HP:0006710 name: Aplasia/Hypoplasia of the clavicles def: "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] is_a: HP:0000889 ! Abnormality of the clavicles is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006711 name: Aplasia/Hypoplasia involving bones of the thorax is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006712 name: Aplasia/Hypoplasia of the ribs alt_id: HP:0006636 synonym: "Hypoplastic or missing ribs" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:54:00Z [Term] id: HP:0006713 name: Aplasia/Hypoplasia of the scapulae is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:58:00Z [Term] id: HP:0006714 name: Aplasia/Hypoplasia of the sternum is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T04:01:00Z [Term] id: HP:0006715 name: Glomus tympanicum paraganglioma alt_id: HP:0002892 synonym: "Tympanic nerve tumors" EXACT [] synonym: "Tympanic nerve tumors (glomus tympanicum)" EXACT [] is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0006716 name: Hereditary nonpolyposis colorectal carcinoma is_a: HP:0002672 ! Gastrointestinal carcinoma is_a: HP:0100834 ! Neoplasm of the large intestine [Term] id: HP:0006717 name: Peripheral neuroepithelioma xref: UMLS:C0684337 "Peripheral neuroepithelioma" is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0006719 name: Benign gastrointestinal tract tumors xref: UMLS:C0497538 "Benign gastrointestinal tract tumors" is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006721 name: Acute lymphatic leukemia alt_id: HP:0004803 alt_id: HP:0005555 def: "A form of acute leukemia characterized by excess lympoblasts." [HPO:probinson] synonym: "Acute lymphoblastic leukemia" EXACT [] synonym: "Acute lymphoid leukemia" EXACT [] is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006722 name: Small intestine carcinoid xref: UMLS:C1868072 "Small intestine carcinoid" is_a: HP:0100570 ! Carcinoid is_a: HP:0100833 ! Neoplasm of the small intestine [Term] id: HP:0006723 name: Intestinal carcinoid is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0100570 ! Carcinoid [Term] id: HP:0006725 name: Pancreatic adenocarcinoma def: "The presence of an adenocarcinoma of the pancreas." [HPO:probinson] xref: UMLS:C0281361 "Pancreatic adenocarcinoma" is_a: HP:0002894 ! Neoplasm of the pancreas property_value: HP:0040005 "The presence of an `adenocarcinoma` (MPATH:268) of the `pancreas` (FMA:7198)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006727 name: T-cell acute lymphoblastic leukemias is_a: HP:0006721 ! Acute lymphatic leukemia [Term] id: HP:0006729 name: Retroperitoneal chemodectomas is_a: HP:0011793 ! Neoplasm by anatomical site [Term] id: HP:0006731 name: Follicular thyroid carcinoma def: "The presence of an follicular adenocarcinoma of the thyroid gland." [HPO:probinson] xref: UMLS:C0206682 "Follicular thyroid carcinoma" is_a: HP:0002890 ! Thyroid carcinoma property_value: HP:0040005 "The presence of an `follicular adenocarcinoma` (MPATH:278) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006732 name: Papillary renal cell carcinoma type 2 def: "A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification." [DDD:rscott, pmid:12429790] comment: Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800). is_a: HP:0006766 ! Papillary renal cell carcinoma [Term] id: HP:0006733 name: Acute megakaryocytic leukemia xref: MeSH:D007947 "Leukemia, Megakaryoblastic, Acute" xref: UMLS:C0023462 "Acute Megakaryocytic Leukemia" is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006735 name: Renal cortical adenoma def: "The presence of an adenoma in the cortex of the kidney." [HPO:probinson] xref: UMLS:C1840399 "Renal cortical adenoma" is_a: HP:0009726 ! Renal neoplasm property_value: HP:0040005 "The presence of an `adenoma` (MPATH:270) in the `cortex of the kidney` (FMA:15581)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006737 name: Extraadrenal pheochromocytoma alt_id: HP:0006764 def: "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:probinson] synonym: "Pheochromocytoma, extraadrenal" EXACT [] is_a: HP:0002666 ! Pheochromocytoma [Term] id: HP:0006739 name: Squamous cell carcinoma of the skin alt_id: HP:0007614 def: "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] synonym: "Squamous skin carcinoma" EXACT [] is_a: HP:0002860 ! Squamous cell carcinoma [Term] id: HP:0006740 name: Transitional cell carcinoma of the bladder def: "The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell." [HPO:probinson] synonym: "Transitional cell bladder carcinoma" EXACT [] is_a: HP:0002862 ! Bladder carcinoma property_value: HP:0040005 "The presence of a `carcinoma` (MPATH:549) of the `urinary bladder` (FMA:15900) with origin in a `transitional epithelial cell` (CL:0000244)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006742 name: Congenital neuroblastoma is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006743 name: Embryonal rhabdomyosarcoma xref: UMLS:C0206656 "Rhabdomyosarcoma, Embryonal" is_a: HP:0002859 ! Rhabdomyosarcoma is_a: HP:0002898 ! Embryonal neoplasm [Term] id: HP:0006744 name: Adrenocortical carcinoma alt_id: HP:0002889 alt_id: HP:0006759 def: "A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone." [HPO:probinson] synonym: "Adrenal carcinoma" EXACT [] synonym: "Adrenal gland carinoma" EXACT [] xref: MeSH:D018268 "Adrenocortical Carcinoma" xref: UMLS:C0206686 "Adrenocortical carcinoma" xref: UMLS:C1370740 "Adrenal carcinoma" is_a: HP:0100641 ! Neoplasm of the adrenal cortex [Term] id: HP:0006747 name: Ganglioneuroblastoma xref: MeSH:D018305 "Ganglioneuroblastoma" xref: UMLS:C0206718 "Ganglioneuroblastoma" is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006748 name: Adrenal pheochromocytoma alt_id: HP:0006752 def: "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] synonym: "Pheochromocytoma, adrenal" EXACT [] synonym: "Pheochromocytomas, adrenal" EXACT [] is_a: HP:0002666 ! Pheochromocytoma is_a: HP:0100642 ! Neoplasm of the adrenal medulla [Term] id: HP:0006749 name: Malignant gastrointestinal tract tumors xref: UMLS:C1834727 "Malignant gastrointestinal tract tumors" is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0006751 name: Paraspinal neurofibromas is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0006753 name: Neoplasm of the stomach def: "A tumor (abnormal growth of tissue) of the stomach." [HPO:probinson] synonym: "Increased gastric cancer" RELATED [] synonym: "Neoplasia of the stomach" RELATED [] is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `stomach` (FMA:7148)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006755 name: Cutaneous leiomyosarcoma def: "The presence of leiomyosarcoma of the skin." [HPO:probinson] xref: UMLS:C0346067 "Cutaneous Leiomyosarcoma" is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100243 ! Leiomyosarcoma property_value: HP:0040005 "The presence of `leiomyosarcoma` (MPATH:426) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006756 name: Diffuse leiomyomatosis is_a: HP:0011793 ! Neoplasm by anatomical site [Term] id: HP:0006758 name: Malignant genitourinary tract tumor def: "The presence of a malignant neoplasm of the genital system." [HPO:probinson] xref: UMLS:C1834728 "Malignant genitourinary tract tumors" is_a: HP:0007379 ! Neoplasm of the genitourinary tract property_value: HP:0040005 "The presence of a `malignant` (PATO:0002097) `neoplasm` (MPATH:218) of the `genital system` (7160)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006762 name: Renal pelvic carcinoma def: "The presence of a carcinoma in the renal pelvis." [HPO:probinson] is_a: HP:0009726 ! Renal neoplasm property_value: HP:0040005 "The presence of a `carcinoma` (MPATH:549) in the `renal pelvis` (FMA:15575)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006763 name: Anal canal squamous carcinoma is_a: HP:0100743 ! Neoplasm of the rectum [Term] id: HP:0006765 name: Chondrosarcoma def: "A slowly growing malignant neoplasm derived from cartilage cells." [HPO:probinson] xref: MeSH:D002813 "Chondrosarcoma" xref: UMLS:C0008479 "Chondrosarcoma" is_a: HP:0010622 ! Neoplasm of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0006766 name: Papillary renal cell carcinoma alt_id: HP:0006776 def: "The presence of renal cell carcinoma in the renal papilla." [HPO:probinson] xref: UMLS:C1306837 "Papillary Renal Cell Carcinoma" is_a: HP:0005584 ! Renal cell carcinoma property_value: HP:0040005 "The presence of `renal cell carcinoma` (HP:0005584) in the `renal papilla` (FMA:15622)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006767 name: Pituitary prolactin cell adenoma def: "A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women." [DDD:spark] synonym: "Pituitary prolactinoma" EXACT [] synonym: "Prolactin-secreting pituitary adenoma" EXACT [] xref: MeSH:D015175 "Prolactinoma" xref: UMLS:C0033375 "Pituitary Adenoma, Prolactin-Secreting" is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0006768 name: Localized neuroblastoma is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006769 name: Myxoid subcutaneous tumors xref: UMLS:C1834421 "Myxoid subcutaneous tumors" is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006770 name: Clear cell renal cell carcinoma def: "A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron." [DDD:rscott] synonym: "Nonpapillary renal cell carcinoma" EXACT [] is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006771 name: Duodenal carcinoma xref: UMLS:C1546189 "Duodenal carcinoma NOS" is_a: HP:0002672 ! Gastrointestinal carcinoma is_a: HP:0100833 ! Neoplasm of the small intestine [Term] id: HP:0006772 name: Renal angiomyolipoma alt_id: HP:0100873 def: "A benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [HPO:probinson] comment: Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. synonym: "Angiomyolipoma" EXACT [] xref: MeSH:D018207 "Angiomyolipoma" xref: UMLS:C1860714 "Multiple bilateral renal angiomyolipoma" is_a: HP:0008696 ! Renal hamartoma is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006773 name: Cutaneous angiolipomas is_a: HP:0001012 ! Multiple lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006774 name: Ovarian papillary adenocarcinoma def: "The presence of a papillary adenocarcinoma of the ovary." [HPO:probinson] is_a: HP:0100615 ! Ovarian neoplasm property_value: HP:0040005 "The presence of a `papillary adenocarcinoma` (MPATH:295) of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006775 name: Multiple myeloma def: "A malignant plasma cell tumor growing within soft tissue or within the skeleton." [HPO:sdoelken] synonym: "Plasmocytoma" RELATED [] xref: MeSH:D009101 "Multiple Myeloma" xref: UMLS:C0026764 "Multiple Myeloma" is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0006778 name: Benign genitourinary tract neoplasm def: "A non-malignant neoplasm of the genitourinary system." [HPO:probinson] synonym: "Benign genitourinary tract tumor" EXACT [] xref: UMLS:C1834726 "Benign genitourinary tract tumors" is_a: HP:0007379 ! Neoplasm of the genitourinary tract property_value: HP:0040005 "A `non-malignant` (PATO:0002096) `neoplasm` (MPATH:218) of the `genitourinary system` (FMA:280610)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006779 name: Alveolar rhabdomyosarcoma xref: MeSH:D018232 "Rhabdomyosarcoma, Alveolar" xref: UMLS:C0206655 "Rhabdomyosarcoma, Alveolar" is_a: HP:0002859 ! Rhabdomyosarcoma [Term] id: HP:0006780 name: Parathyroid carcinoma def: "A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism." [HPO:probinson] synonym: "Parathyroid Cancer" EXACT [] xref: MeSH:D010282 "Parathyroid Neoplasms" xref: UMLS:C0687150 "Parathyroid Carcinoma" is_a: HP:0100733 ! Neoplasm of the parathyroid gland [Term] id: HP:0006781 name: Hurthle cell thyroid adenoma def: "A kind of thyroid adenoma characterized by the presence of oxyphil cells." [HPO:probinson] comment: Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells. xref: UMLS:C1336750 "Hurthle cell thyroid adenoma" is_a: HP:0000854 ! Thyroid adenoma property_value: HP:0040005 "A kind of `thyroid adenoma` (HP:0000854) characterized by the presence of `oxyphil cells` (CL:0002200)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006782 name: Malignant eosinophil proliferation is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0006783 name: Posterior pharyngeal cleft xref: UMLS:C1848389 "Posterior pharyngeal cleft" is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0006784 name: Paranasal sinus hypoplasia def: "Underdevelopment of the paranasal sinuses." [HPO:probinson] is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses property_value: HP:0040005 "Underdevelopment of the `paranasal sinuses` (FMA:76587)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006785 name: Limb-girdle muscular dystrophy alt_id: HP:0009066 def: "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators] xref: MeSH:D049288 "Muscular Dystrophies, Limb-Girdle" xref: UMLS:C0686353 "Limb-girdle muscular dystrophy" is_a: HP:0003560 ! Muscular dystrophy is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0006789 name: Mitochondrial encephalopathy xref: UMLS:C1852373 "Mitochondrial encephalopathy" is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006790 name: Cerebral cortex with spongiform changes is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006794 name: Loss of ability to walk in first decade is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006799 name: Basal ganglia cysts alt_id: HP:0007244 synonym: "Cystic lesions in the basal ganglia" EXACT [] xref: UMLS:C1837251 "Basal ganglia cysts" is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0006801 name: Hyperactive deep tendon reflexes alt_id: HP:0007259 synonym: "Brisk deep tendon reflexes" EXACT [] xref: UMLS:C1834053 "Hyperactive deep tendon reflexes" xref: UMLS:C1846176 "Brisk deep tendon reflexes" is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0006802 name: Abnormal anterior horn cell morphology def: "Any anomaly of the anterior horn cell." [HPO:probinson] comment: Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles. synonym: "Abnormality of the anterior horn cell" BROAD [] synonym: "Abnormality of the anterior horn cells" EXACT [] synonym: "Anomaly of the anterior horn cells" EXACT [] synonym: "Anterior horn cell disease" EXACT [] xref: UMLS:C0154681 "Anterior Horn Cell Disease" is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0002450 ! Abnormal motor neuron morphology property_value: HP:0040005 "Any anomaly of the `anterior horn cell` (CL:0000100)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006803 name: Vivid hallucinations is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006808 name: Cerebral hypomyelination def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system." [HPO:probinson] synonym: "Hypomyelination of the brain" EXACT [] is_a: HP:0003429 ! CNS hypomyelination [Term] id: HP:0006812 name: White mater abnormalities in the posterior periventricular region is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0006813 name: Hemiclonic seizures synonym: "Unilateral clonic seizures" EXACT [] xref: UMLS:C1846620 "Unilateral clonic seizures" is_a: HP:0002266 ! Focal clonic seizures [Term] id: HP:0006817 name: Aplasia/Hypoplasia of the cerebellar vermis alt_id: HP:0005690 alt_id: HP:0007080 def: "Absence or underdevelopment of the vermis of cerebellum." [HPO:curators] synonym: "CEREBELLAR VERMIS APLASIA OR HYPOPLASIA" RELATED [HPO:skoehler] synonym: "Cerebellar vermis aplasia/hypoplasia" EXACT [] synonym: "Hypo/aplastic vermis" EXACT [] is_a: HP:0002334 ! Abnormality of the cerebellar vermis property_value: HP:0040005 "Absence or underdevelopment of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:curators"} [Term] id: HP:0006818 name: Type I lissencephaly def: "A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development." [HPO:probinson] synonym: "Lissencephaly, type I" EXACT [] is_a: HP:0001339 ! Lissencephaly property_value: HP:0040005 "A form of `lissencephaly` (HP:0001339) in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006821 name: Polymicrogyria, anterior to posterior gradient is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006824 name: Cranial nerve paralysis alt_id: HP:0001353 synonym: "Cranial nerve palsies" EXACT [] synonym: "Cranial nerve palsy" EXACT [] synonym: "Cranial nerve paresis" EXACT [] xref: UMLS:C0151311 "Cranial nerve palsy" is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0006825 name: Pallor of dorsal columns of the spinal cord is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord [Term] id: HP:0006827 name: Atrophy of the spinal cord is_a: HP:0007344 ! Atrophy/Degeneration involving the spinal cord [Term] id: HP:0006829 name: Severe muscular hypotonia alt_id: HP:0002347 def: "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] synonym: "Hypotonia, severe" EXACT [] xref: UMLS:C1839630 "Hypotonia, severe" is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0006830 name: Severe neonatal hypotonia in males comment: This term needs to be made obsolete or revised. is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0006834 name: Developmental stagnation at onset of seizures def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy." [HPO:probinson] is_a: HP:0007281 ! Developmental stagnation [Term] id: HP:0006837 name: Congenital Horner syndrome def: "A type of Horner syndrome with congenital onset." [HPO:probinson] xref: UMLS:C1840475 "HORNER SYNDROME, CONGENITAL" is_a: HP:0002277 ! Horner syndrome property_value: HP:0040005 "A type of `Horner syndrome` (HP:0002277) with congenital onset." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006844 name: Absent patellar reflexes def: "Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella." [HPO:probinson] xref: UMLS:C1832124 "Absent patellar reflexes" is_a: HP:0002522 ! Areflexia of lower limbs [Term] id: HP:0006846 name: Acute encephalopathy xref: UMLS:C1306587 "Acute encephalopathy" is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006849 name: Hypodysplasia of the corpus callosum is_a: HP:0002079 ! Hypoplasia of the corpus callosum [Term] id: HP:0006850 name: Hypoplasia of the ventral pons def: "Underdevelopment of the ventral portion of the pons." [HPO:probinson] is_a: HP:0007361 ! Abnormality of the pons property_value: HP:0040005 "Underdevelopment of the ventral portion of the `pons` (FMA:67943)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006851 name: Symmetric spinal nerve root neurofibromas def: "Multiple neurofibromas of the spinal nerve roots with a symmetric distribution." [HPO:probinson] synonym: "Spinal nerve root neurofibromas, symmetric, multiple" EXACT [] is_a: HP:0009735 ! Spinal neurofibromas [Term] id: HP:0006852 name: Episodic generalized hypotonia def: "The occurrence of repeated episodes of generalized muscular hypotonia." [HPO:curators] is_a: HP:0001290 ! Generalized hypotonia [Term] id: HP:0006855 name: Cerebellar vermis atrophy alt_id: HP:0007121 alt_id: HP:0007312 def: "Wasting (atrophy) of the vermis of cerebellum." [HPO:probinson] comment: This sign can be visualized with brain MRI. synonym: "Atrophy of cerebellar vermis" EXACT [] synonym: "Atrophy of the cerebellar vermis" EXACT [] xref: UMLS:C0742028 "Cerebellar vermis atrophy" is_a: HP:0002334 ! Abnormality of the cerebellar vermis property_value: HP:0040005 "Wasting (atrophy) of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006858 name: Impaired distal proprioception alt_id: HP:0007056 alt_id: HP:0007148 def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints." [HPO:probinson] synonym: "Distal sensory loss of proprioception" EXACT [] is_a: HP:0002936 ! Distal sensory impairment is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0006859 name: Posterior leukoencephalopathy xref: UMLS:C1843513 "Posterior leukoencephalopathy" is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006863 name: Severe expressive language delay def: "A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth] xref: UMLS:C1851085 "Severe expressive language delay" is_a: HP:0002474 ! Expressive language delay [Term] id: HP:0006865 name: Sensorimotor polyneuropathy affecting arms more than legs is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006866 name: Midline central nervous system lipomas is_a: HP:0100251 ! Lipomas of the central neryous system [Term] id: HP:0006870 name: Lobar holoprosencephaly def: "A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally." [gc:hpe] xref: UMLS:C0431362 "Lobar Holoprosencephaly" is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006872 name: Cerebral hypoplasia def: "Underdevelopment of the cerebrum." [HPO:probinson] xref: UMLS:C1855330 "Cerebral hypoplasia" is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0006873 name: Symmetrical progressive peripheral demyelination def: "A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] xref: UMLS:C1856411 "Symmetrical progressive demyelination" is_a: HP:0007262 ! Symmetric peripheral demyelination [Term] id: HP:0006877 name: obsolete Mental retardation, in some is_obsolete: true replaced_by: HP:0001249 [Term] id: HP:0006879 name: Pontocerebellar atrophy def: "Atrophy affecting the pons and the cerebellum." [HPO:probinson] xref: UMLS:C1853766 "Pontocerebellar atrophy" is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0006880 name: Cerebellar hemangioblastoma alt_id: HP:0006761 def: "A 'hemangioblastoma of the cerebellum." [HPO:probinson] synonym: "Hemangioblastoma, sporadic cerebellar" EXACT [] xref: UMLS:C1332900 "Cerebellar hemangioblastoma" is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0010797 ! Hemangioblastoma property_value: HP:0040005 "A 'hemangioblastoma` (HP:0010797) of the `cerebellum` (FMA:67944)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006881 name: Diffuse peripheral demyelination def: "A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0006882 name: Severe hydrocephalus is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0006886 name: Impaired distal vibration sensation def: "A decrease in the ability to perceive vibration in the distal portions of the limbs." [HPO:probinson] synonym: "Decreased distal vibration sense" EXACT [] xref: UMLS:C1853767 "Decreased distal vibration sense" is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006887 name: Intellectual disability, progressive alt_id: HP:0001261 alt_id: HP:0006924 alt_id: HP:0007025 alt_id: HP:0007044 alt_id: HP:0007243 def: "The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time." [HPO:probinson] synonym: "Mental retardation, progressive" EXACT [] synonym: "Progressive mental retardation" EXACT [] xref: UMLS:C1846149 "Progressive mental retardation" is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0006888 name: Meningoencephalocele xref: UMLS:C0266456 "Meningoencephalocele" is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006889 name: Intellectual disability, borderline def: "Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-79." [HPO:curators] synonym: "Mental retardation, borderline" EXACT [] is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0006891 name: Thick cerebral cortex is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006892 name: Frontotemporal cerebral atrophy def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum." [HPO:probinson] synonym: "Cerebral atrophy, frontotemporal" EXACT [] is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0006893 name: Severely dysplastic cerebellum is_a: HP:0007033 ! Cerebellar dysplasia [Term] id: HP:0006894 name: Hypoplastic olfactory lobes xref: UMLS:C1859231 "Hypoplastic olfactory lobes" is_a: HP:0001341 ! Olfactory lobe agenesis [Term] id: HP:0006895 name: Lower limb hypertonia xref: UMLS:C1845245 "Lower limb hypertonia" is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0002509 ! Limb hypertonia [Term] id: HP:0006896 name: Hypnopompic hallucinations xref: UMLS:C0424082 "Hypnopompic hallucinations" is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006897 name: Cranial nerve VI palsy is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0006899 name: Fusion of the cerebellar hemispheres is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0006901 name: Impaired thermal sensitivity is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0006903 name: Congenital peripheral neuropathy is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006904 name: Late-onset spinocerebellar degeneration xref: UMLS:C1856604 "Late-onset spinocerebellar degeneration" is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0006906 name: Congenital intracerebral calcification def: "The presence of calcium deposition within brain structures that is present already at the time of birth." [HPO:probinson] is_a: HP:0002514 ! Cerebral calcification property_value: HP:0040005 "The presence of `calcium deposition` (MPATH:36) within brain structures that is present already at the time of birth." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006913 name: Frontal cortical atrophy def: "Atrophy of the frontal cortex." [HPO:probinson] is_a: HP:0002120 ! Cerebral cortical atrophy property_value: HP:0040005 "Atrophy of the `frontal cortex` (FMA:61824)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006915 name: Inability to walk by childhood/adolescence is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006916 name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material def: "Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons." [HPO:probinson] synonym: "Intraaxonal accumulation of curvilinear profiles" RELATED [] is_a: HP:0003205 ! Curvilinear intracellular accumulation of autofluorescent lipopigment storage material property_value: HP:0040005 "`Curvilinear intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003205) within `axons` (GO:0030424)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006918 name: Diffuse cerebral sclerosis is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0006919 name: Abnormal aggressive, impulsive or violent behavior is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0006921 name: Axial muscle stiffness def: "Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature." [HPO:probinson] is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0006926 name: Metachromatic leukodystrophy variant alt_id: HP:0007079 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006927 name: Unilateral polymicrogyria def: "Excessive number of small gyri (convolutions) on the surface of one side of the brain." [HPO:probinson] is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006929 name: Hypoglycemic encephalopathy def: "Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage." [HPO:probinson] is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006930 name: Frontoparietal cortical dysplasia def: "The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe." [HPO:probinson] xref: UMLS:C1864894 "Frontoparietal cortical dysplasia" is_a: HP:0002539 ! Cortical dysplasia property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `cortex of frontal lobe` (FMA:242199) and the `cortex of parietal lobe` (FMA:242203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006931 name: Lipoma of corpus callosum is_a: HP:0001273 ! Abnormality of the corpus callosum is_a: HP:0006866 ! Midline central nervous system lipomas [Term] id: HP:0006932 name: Transient psychotic episodes is_a: HP:0000725 ! Psychotic episodes [Term] id: HP:0006934 name: Congenital nystagmus def: "Nystagmus dating from or present at birth." [HPO:curators] synonym: "NYSTAGMUS, CONGENITAL" RELATED [HPO:skoehler] xref: MeSH:D020417 "Nystagmus, Congenital" xref: UMLS:C0700501 "Congenital nystagmus" is_a: HP:0000639 ! Nystagmus [Term] id: HP:0006937 name: Impaired distal tactile sensation alt_id: HP:0006981 def: "A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [HPO:probinson] synonym: "Decreased distal touch sense" EXACT [] is_a: HP:0002936 ! Distal sensory impairment is_a: HP:0010830 ! Impaired tactile sensation [Term] id: HP:0006938 name: Impaired vibration sensation at ankles alt_id: HP:0007144 def: "A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles." [HPO:probinson] synonym: "Decreased vibration sense at ankles" EXACT [] synonym: "Decreased vibration sense in feet" EXACT [] is_a: HP:0002166 ! Impaired vibration sensation in the lower limbs is_a: HP:0006886 ! Impaired distal vibration sensation [Term] id: HP:0006943 name: Diffuse spongiform leukoencephalopathy xref: UMLS:C1858857 "Diffuse spongiform leukoencephalopathy" is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006944 name: Abolished vibration sense def: "A complete loss of the ability to perceive vibration." [HPO:curators] is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006946 name: Recurrent meningitis def: "An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis." [HPO:probinson] xref: UMLS:C0746495 "Recurrent meningitis" is_a: HP:0011450 ! CNS infection [Term] id: HP:0006949 name: Episodic peripheral neuropathy xref: UMLS:C1848695 "Episodic peripheral neuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006951 name: Retrocerebellar cyst xref: UMLS:C1845370 "Retrocerebellar cyst" is_a: HP:0002350 ! Cerebellar cyst [Term] id: HP:0006955 name: Olivopontocerebellar hypoplasia alt_id: HP:0007168 def: "Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson] xref: UMLS:C1859341 "Olivopontocerebellar hypoplasia" is_a: HP:0001321 ! Cerebellar hypoplasia is_a: HP:0012110 ! Hypoplasia of the pons [Term] id: HP:0006956 name: Dilation of lateral ventricles alt_id: HP:0006796 alt_id: HP:0006945 alt_id: HP:0007173 synonym: "Dilatation of lateral cerebral ventricles" EXACT [] synonym: "Enlarged lateral ventricles" EXACT [] synonym: "Lateral ventricle dilatation" EXACT [] xref: UMLS:C1848503 "Lateral ventricle dilatation" is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0030047 ! Abnormality of lateral ventricle [Term] id: HP:0006957 name: Loss of ability to walk is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006958 name: Abnormal auditory evoked potentials alt_id: HP:0003151 alt_id: HP:0004462 alt_id: HP:0006923 def: "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex." [HPO:probinson] comment: Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea. synonym: "Abnormal brainstem auditory-evoked potentials" EXACT [] xref: UMLS:C0522216 "Abnormal auditory evoked potentials" is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology [Term] id: HP:0006959 name: Proximal spinal muscular atrophy def: "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0006960 name: Choroid plexus calcification def: "The presence of calcium deposition in the choroid plexus." [HPO:probinson] synonym: "Calcified choroid plexus" EXACT [] xref: UMLS:C1863184 "Calcified choroid plexus" is_a: HP:0002514 ! Cerebral calcification is_a: HP:0007376 ! Abnormality of the choroid plexus property_value: HP:0040005 "The presence of `calcium deposition` (MPATH:36) in the `choroid plexus` (FMA:61934)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0006961 name: Jerky head movements synonym: "Jerking head movements" EXACT [] xref: UMLS:C1855568 "Jerky head movements" is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0006962 name: Gait instability, worse in the dark is_a: HP:0002317 ! Unsteady gait [Term] id: HP:0006964 name: Cerebral cortical neurodegeneration xref: UMLS:C1859863 "Cerebral cortical neurodegeneration" is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0006965 name: Acute necrotizing encephalopathy xref: UMLS:C1855020 "Acute necrotizing encephalopathy" is_a: HP:0006846 ! Acute encephalopathy [Term] id: HP:0006970 name: Periventricular leukomalacia xref: MeSH:D007969 "Leukomalacia, Periventricular" xref: UMLS:C0023529 "Leucomalacia, Periventricular" is_a: HP:0002518 ! Abnormality of the periventricular white matter [Term] id: HP:0006976 name: Necrotizing encephalopathy def: "A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue." [KI:phemming, pmid:23705127] comment: The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006977 name: Grammar-specific speech disorder is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0006978 name: Dysmyelinating leukodystrophy xref: UMLS:C1836728 "Dysmyelinating leukodystrophy" is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006979 name: Sleep-wake cycle disturbance xref: UMLS:C1833362 "Sleep-wake cycle disturbance" is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0006980 name: Progressive leukoencephalopathy def: "Leukoencephalopathy that gets more severe with time." [HPO:probinson] synonym: "Leukoencephalopathy, progressive" EXACT [] is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006983 name: Slowly progressive spastic quadriparesis is_a: HP:0002478 ! Progressive spastic quadriplegia [Term] id: HP:0006984 name: Distal sensory loss of all modalities is_a: HP:0003409 ! Distal sensory impairment of all modalities [Term] id: HP:0006986 name: Upper limb spasticity xref: UMLS:C1273957 "Upper limb spasticity" is_a: HP:0001257 ! Spasticity [Term] id: HP:0006988 name: Alobar holoprosencephaly def: "A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged." [gc:hpe] xref: UMLS:C0431363 "Alobar Holoprosencephaly" is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006989 name: Dysplastic corpus callosum alt_id: HP:0006996 def: "Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium." [HPO:probinson, pmid:21263138] synonym: "Dysgenesis of corpus callosum" EXACT [] synonym: "Dysplasia of corpus callosum" EXACT [] xref: UMLS:C1854884 "Dysplastic corpus callosum" is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006990 name: Myelin-dependent gliosis def: "A type of gliosis that occurs in the vicinity of injured neurons." [HPO:probinson] is_a: HP:0002171 ! Gliosis [Term] id: HP:0006992 name: Anterior basal encephalocele xref: UMLS:C1850961 "Anterior basal encephalocele" is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006994 name: Diffuse leukoencephalopathy is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006999 name: Basal ganglia gliosis def: "The presence of gliosis in the basal ganglia." [HPO:probinson] comment: Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue. synonym: "Cell loss and gliosis in the basal ganglia" RELATED [] is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002171 ! Gliosis property_value: HP:0040005 "The presence of `gliosis` (MPATH:182) in the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007000 name: Morning myoclonic jerks xref: UMLS:C1847164 "Morning myoclonic jerks" is_a: HP:0001336 ! Myoclonus [Term] id: HP:0007001 name: Loss of Purkinje cells in the cerebellar vermis is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007002 name: Motor axonal neuropathy alt_id: HP:0007349 def: "Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg." [HPO:probinson] comment: Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available. synonym: "Distal motor neuropathy" RELATED [] synonym: "Length dependent motor neuropathy" RELATED [] xref: UMLS:C1854570 "Distal motor neuropathy" is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0007006 name: Dorsal column degeneration is_a: HP:0011397 ! Abnormality of the dorsal column of the spinal cord [Term] id: HP:0007007 name: Cavitation of the basal ganglia alt_id: HP:0007246 def: "The formation of small cavities in the tissue of the basal ganglia." [HPO:probinson, pmid:8516046] comment: This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images. is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: HP:0040005 "The formation of small cavities in the tissue of the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson", xref="pmid:8516046"} [Term] id: HP:0007009 name: Central nervous system degeneration is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007010 name: Poor fine motor coordination xref: UMLS:C1867864 "Poor fine motor coordination" is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007011 name: Fourth cranial nerve palsy def: "Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly." [ORCIRD:0000-0001-5208-3432] comment: The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. synonym: "Superior oblique palsy" EXACT [] synonym: "Trochlear nerve palsy" EXACT [] xref: MeSH:D020432 "Trochlear Nerve Diseases" xref: UMLS:C0152176 "Fourth Cranial Nerve Palsy" is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0007015 name: Poor gross motor coordination is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007016 name: Corticospinal tract hypoplasia xref: UMLS:C1844007 "Corticospinal tract hypoplasia" is_a: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts [Term] id: HP:0007017 name: Progressive forgetfulness is_a: HP:0002354 ! Memory impairment [Term] id: HP:0007018 name: Attention deficit hyperactivity disorder alt_id: HP:0001576 alt_id: HP:0001577 alt_id: HP:0006973 def: "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] synonym: "Attention deficit" EXACT [] synonym: "Attention deficit disorder" EXACT [] synonym: "Attention deficit-hyperactivity disorder" EXACT [] synonym: "Attention deficits" EXACT [] synonym: "Childhood attention deficit/hyperactivity disorder" EXACT [] xref: UMLS:C1263846 "attention deficit disorder" is_a: HP:0000736 ! Short attention span is_a: HP:0000752 ! Hyperactivity [Term] id: HP:0007020 name: Progressive spastic paraplegia alt_id: HP:0006875 alt_id: HP:0007255 xref: UMLS:C1855483 "Progressive spastic paraplegia" is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007021 name: Pain insensitivity alt_id: HP:0003404 def: "Inability to perceive painful stimuli." [HPO:probinson] synonym: "Absence of pain sensation" EXACT [] is_a: HP:0007328 ! Impaired pain sensation [Term] id: HP:0007023 name: Antenatal intracerebral hemorrhage def: "Cerebral hemorrhage that occurs before birth." [HPO:probinson] xref: UMLS:C1837247 "Antenatal intracerebral hemorrhage" is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0007024 name: Pseudobulbar paralysis alt_id: HP:0002201 alt_id: HP:0006819 def: "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing." [HPO:sdoelken] synonym: "Pseudobulbar palsy" EXACT [] synonym: "Pseudobulbar syndrome" EXACT [] xref: MeSH:D020828 "Pseudobulbar Palsy" xref: UMLS:C0033790 "Pseudobulbar Syndrome" is_a: HP:0001260 ! Dysarthria is_a: HP:0001618 ! Dysphonia is_a: HP:0002015 ! Dysphagia is_a: HP:0002200 ! Pseudobulbar signs property_value: HP:0040005 "Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by `Pseudobulbar behavioral symptoms` (HP:0002193) such as enforced crying and laughing." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0007027 name: Poorly formed metencephalon def: "A morphological abnormality of the metencephalon." [HPO:probinson] comment: The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain. is_a: HP:0011283 ! Abnormality of the metencephalon property_value: HP:0040005 "A morphological abnormality of the `metencephalon` (FMA:62003)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007029 name: Cerebral berry aneurysm def: "A sac-like aneurysm (outpouching) of a cerebral blood vessel." [HPO:probinson] comment: Saccular aneurysms are often said to have a berry-shaped appearance, whence the name. synonym: "Cerebral saccular aneurysm" EXACT [] is_a: HP:0004944 ! Cerebral aneurysm [Term] id: HP:0007030 name: Nonprogressive encephalopathy is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007033 name: Cerebellar dysplasia def: "The presence of developmental dysplasia of the cerebellum." [HPO:probinson] is_a: HP:0001317 ! Abnormality of the cerebellum property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `cerebellum` (FMA:67944)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007034 name: Generalized hyperreflexia is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007035 name: Anterior encephalocele is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007036 name: Hypoplasia of olfactory tract is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0007039 name: Symmetric lesions of the basal ganglia is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007041 name: Chronic lymphocytic meningitis xref: UMLS:C0393441 "Chronic lymphocytic meningitis" is_a: HP:0001287 ! Meningitis [Term] id: HP:0007042 name: Focal white matter lesions is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007045 name: Midline brain calcifications xref: UMLS:C1855487 "Midline brain calcifications" is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007047 name: Atrophy of the dentate nucleus is_a: HP:0100321 ! Abnormality of the dentate nucleus [Term] id: HP:0007048 name: Large basal ganglia def: "Increased size of the basal ganglia." [HPO:probinson] xref: UMLS:C1859470 "Large basal ganglia" is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: HP:0040005 "Increased size of the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007052 name: Multifocal cerebral white matter abnormalities xref: UMLS:C1833434 "Multifocal cerebral white matter abnormalities" is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007054 name: Hyperreflexia proximally xref: UMLS:C1836012 "Hyperreflexia proximally" is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007057 name: Poor hand-eye coordination xref: UMLS:C1845864 "Poor hand-eye coordination" is_a: HP:0002370 ! Poor coordination [Term] id: HP:0007058 name: Generalized cerebral atrophy/hypoplasia def: "Generalized atrophy or hypoplasia of the cerebrum." [HPO:sdoelken] is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0007063 name: Aplasia of the inferior half of the cerebellar vermis is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0007064 name: Progressive language deterioration def: "Progressive loss of previously present language abilities." [HPO:probinson] xref: UMLS:C1843793 "Progressive language deterioration" is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007065 name: Disorganization of the anterior cerebellar vermis is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007066 name: Proximal limb muscle stiffness comment: Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb xref: UMLS:C1861460 "Proximal limb muscle stiffness" is_a: HP:0003552 ! Muscle stiffness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0007067 name: Distal peripheral sensory neuropathy def: "Peripheral sensory neuropathy affecting primarily distal sensation." [HPO:probinson] synonym: "Peripheral sensory neuropathy, distal" EXACT [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007068 name: Inferior vermis hypoplasia alt_id: HP:0005724 def: "Underdevelopment of the inferior portion of the vermis of cerebellum." [HPO:probinson, pmid:16580298] synonym: "Hypoplasia of inferior vermis" EXACT [] xref: UMLS:C1855350 "Inferior vermis hypoplasia" is_a: HP:0001320 ! Cerebellar vermis hypoplasia property_value: HP:0040005 "Underdevelopment of the inferior portion of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="HPO:probinson", xref="pmid:16580298"} [Term] id: HP:0007069 name: Profound static encephalopathy is_a: HP:0007030 ! Nonprogressive encephalopathy [Term] id: HP:0007074 name: Thick corpus callosum alt_id: HP:0006805 alt_id: HP:0006807 alt_id: HP:0200009 alt_id: HP:0200010 def: "Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain." [KI:phemming, pmid:10029348] synonym: "Abnormal size of corpus callosum" EXACT [] synonym: "Large corpus callosum" EXACT [] xref: UMLS:C1835194 "Thick corpus callosum" xref: UMLS:C1857625 "Large corpus callosum" is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0007076 name: Extrapyramidal muscular rigidity def: "Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [HPO:probinson] comment: This is a classic type of extrapyramidal movement disorder. xref: UMLS:C1852470 "Extrapyramidal muscular rigidity" is_a: HP:0002063 ! Rigidity is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0007078 name: Decreased amplitude of sensory action potentials def: "A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies." [HPO:probinson] is_a: HP:0030179 ! Abnormal peripheral action potential amplitude [Term] id: HP:0007081 name: Late-onset muscular dystrophy is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0007082 name: Dilated third ventricle def: "An increase in size of the third ventricle." [HPO:probinson] comment: The thrid ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle. is_a: HP:0002119 ! Ventriculomegaly property_value: HP:0040005 "An increase in size of the `third ventricle` (FMA:78454)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007083 name: Hyperactive patellar reflex synonym: "Brisk knee jerk" RELATED [] synonym: "Hyperreflexia in knees" EXACT [] is_a: HP:0002395 ! Lower limb hyperreflexia [Term] id: HP:0007086 name: Social and occupational deterioration is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0007087 name: Involuntary jerking movements xref: UMLS:C1854302 "Involuntary jerking movements" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0007089 name: Facial-lingual fasciculations def: "Fasciculations affecting the tongue muscle and the musculature of the face." [HPO:curators] xref: UMLS:C1862359 "Facial-lingual fasciculations" is_a: HP:0002380 ! Fasciculations [Term] id: HP:0007095 name: Frontoparietal polymicrogyria def: "An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region." [HPO:probinson] is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0007096 name: Hypoplasia of the optic tract is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract [Term] id: HP:0007097 name: Cranial nerve motor loss is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0007098 name: Paroxysmal choreoathetosis alt_id: HP:0002351 def: "Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements." [HPO:probinson] synonym: "Choreoathetosis, episodic" EXACT [] synonym: "Choreoathetosis, intermittent" EXACT [] is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007099 name: Arnold-Chiari type I malformation alt_id: HP:0002440 def: "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators] synonym: "Arnold Chiari type I malformation" EXACT [] synonym: "Chiari I malformation" EXACT [] xref: UMLS:C1857474 "Chiari I malformation" is_a: HP:0002308 ! Arnold-Chiari malformation [Term] id: HP:0007100 name: Progressive ventriculomegaly xref: UMLS:C1865119 "Progressive ventriculomegaly" is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0007103 name: Hypointensity of cerebral white matter on MRI alt_id: HP:0006804 def: "A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter." [HPO:probinson] synonym: "White matter hypointensities on MRI" EXACT [] is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007104 name: Prolonged somatosensory evoked potentials is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0007105 name: Infantile encephalopathy alt_id: HP:0006948 alt_id: HP:0007309 alt_id: HP:0007353 def: "Encephalopathy with onset in the infantile period." [HPO:probinson] xref: UMLS:C1856408 "Infantile encephalopathy" is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007107 name: Segmental peripheral demyelination def: "A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system." [HPO:probinson] xref: UMLS:C0333457 "Segmental demyelination" is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0007108 name: Demyelinating peripheral neuropathy alt_id: HP:0007205 def: "Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies." [HPO:probinson] is_a: HP:0009830 ! Peripheral neuropathy is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007109 name: Periventricular cysts xref: UMLS:C1839858 "Periventricular cysts" is_a: HP:0002518 ! Abnormality of the periventricular white matter is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0007110 name: Central hypoventilation is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0007111 name: Chronic hepatic encephalopathy is_a: HP:0002480 ! Hepatic encephalopathy [Term] id: HP:0007112 name: Temporal cortical atrophy def: "Atrophy of the temporal cortex." [HPO:probinson] is_a: HP:0002120 ! Cerebral cortical atrophy property_value: HP:0040005 "Atrophy of the `temporal cortex` (FMA:61825)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007115 name: Orbital encephalocele xref: UMLS:C0271330 "Orbital encephalocele" is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007117 name: Corticospinal tract atrophy xref: UMLS:C1838868 "Corticospinal tract atrophy" is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0007123 name: Subcortical dementia def: "A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change." [HPO:probinson, pmid:4819905] is_a: HP:0000726 ! Dementia [Term] id: HP:0007126 name: Proximal amyotrophy alt_id: HP:0006792 alt_id: HP:0006966 alt_id: HP:0008943 alt_id: HP:0008980 alt_id: HP:0009041 def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:probinson] comment: Proximal amyotrophy usually has a roughly symmetric distribution. synonym: "Muscle atrophy, proximal" EXACT [] synonym: "Proximal muscle atrophy" EXACT [] synonym: "Proximal muscle wasting" EXACT [] synonym: "Symmetric proximal muscular atrophy" EXACT [] synonym: "Symmetrical, proximal limb muscle atrophy" EXACT [] xref: UMLS:C1850794 "Muscle atrophy, proximal" is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007129 name: Cerebellar medulloblastoma xref: UMLS:C1862179 "Cerebellar medulloblastoma" is_a: HP:0002885 ! Medulloblastoma [Term] id: HP:0007131 name: Acute demyelinating polyneuropathy def: "Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration." [HPO:probinson] comment: This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome. is_a: HP:0007108 ! Demyelinating peripheral neuropathy [Term] id: HP:0007132 name: Pallidal degeneration def: "Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement." [HPO:probinson] xref: UMLS:C0393577 "Pallidal degeneration" is_a: HP:0002453 ! Abnormality of the globus pallidus is_a: HP:0012157 ! Subcortical cerebral atrophy [Term] id: HP:0007133 name: Progressive peripheral neuropathy alt_id: HP:0007329 synonym: "Progressive polyneuropathy" EXACT [] xref: UMLS:C1859178 "Progressive peripheral neuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007141 name: Sensorimotor neuropathy alt_id: HP:0007055 alt_id: HP:0007237 synonym: "Mixed polyneuropathy" EXACT [] synonym: "Sensorimotor peripheral neuropathy" EXACT [] xref: UMLS:C1112256 "Sensorimotor peripheral neuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007146 name: Bilateral basal ganglia lesions is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007149 name: Distal upper limb amyotrophy def: "Muscular atrophy of distal arm muscles." [HPO:probinson] synonym: "Distal upper limb muscle atrophy" EXACT [] is_a: HP:0003693 ! Distal amyotrophy is_a: HP:0009129 ! Upper limb amyotrophy [Term] id: HP:0007153 name: Progressive extrapyramidal movement disorder is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0007156 name: Asymmetric limb muscle stiffness def: "Stiffness of the limbs (acondition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern." [HPO:probinson] is_a: HP:0003552 ! Muscle stiffness is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0007158 name: Progressive extrapyramidal muscular rigidity def: "A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement)." [HPO:probinson] synonym: "Progressive extrapyramidal rigidity" EXACT [] is_a: HP:0007076 ! Extrapyramidal muscular rigidity [Term] id: HP:0007159 name: Fluctuations in consciousness is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007162 name: Diffuse demyelination of the cerebral white matter def: "A diffuse loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0007163 name: obsolete Corticospinal tract disease in lower limbs is_obsolete: true consider: HP:0007256 [Term] id: HP:0007164 name: Slowed slurred speech is_a: HP:0001350 ! Slurred speech [Term] id: HP:0007165 name: Periventricular gray matter heterotopia alt_id: HP:0002272 def: "A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass." [HPO:probinson] comment: Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome. synonym: "Periventricular neuronal heterotopia" EXACT [HPO:curators] synonym: "Subependymal gray matter heterotopia" EXACT [HPO:curators] synonym: "Subependymal neuronal heterotopia" EXACT [HPO:curators] xref: UMLS:C1849173 "Periventricular gray matter heterotopias" is_a: HP:0002281 ! Gray matter heterotopias [Term] id: HP:0007166 name: Paroxysmal dyskinesia def: "Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks." [HPO:probinson] synonym: "Involuntary dystonic or choreiform movements" RELATED [] xref: UMLS:C0008489 "choreiform movements" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0007178 name: Motor polyneuropathy alt_id: HP:0007278 synonym: "Peripheral motor neuropathy" EXACT [] xref: UMLS:C0271683 "Polyneuropathy, Motor" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007179 name: Absent smooth pursuit def: "A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [HPO:probinson] is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0007181 name: Interosseus muscle atrophy def: "Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones." [HPO:curators] comment: This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles. synonym: "Interosseous muscular atrophy" EXACT [] xref: UMLS:C1846829 "Interosseus muscle atrophy" is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0007182 name: Peripheral hypomyelination alt_id: HP:0007012 alt_id: HP:0007160 alt_id: HP:0007226 def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0007183 name: Focal T2 hyperintense basal ganglia lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia." [HPO:probinson] synonym: "Hyperintense lesions in the basal ganglia on MRI" RELATED [] is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity [Term] id: HP:0007185 name: Loss of consciousness xref: MeSH:D014474 "Unconsciousness" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007187 name: Focal lissencephaly def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex." [KI:phemming] xref: UMLS:C1855230 "Focal lissencephaly" is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007188 name: Congenital facial diplegia def: "Facial diplegia (that is, bilateral facial palsy) with congenital onset)." [HPO:curators] xref: UMLS:C0853240 "Congenital facial diplegia" is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0007190 name: Neuronal loss in the cerebral cortex is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0007193 name: Generalized tonic-clonic seizures on awakening alt_id: HP:0007008 def: "Generalized tonic-clonic seizures on awakening are a form of Generalized tonic-clonic seizures that occur upon awaking." [HPO:probinson] synonym: "Morning generalized tonic-clonic seizures" EXACT [] xref: UMLS:C1847165 "Morning generalized tonic-clonic seizures" is_a: HP:0002069 ! Generalized tonic-clonic seizures property_value: HP:0040005 "Generalized tonic-clonic seizures on awakening are a form of `Generalized tonic-clonic seizures` (HP:0002069) that occur upon awaking." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007199 name: Progressive spastic paraparesis is_a: HP:0002313 ! Spastic paraparesis [Term] id: HP:0007200 name: Episodic hypersomnia is_a: HP:0004372 ! Reduced consciousness/confusion is_a: HP:0100786 ! Hypersomnia [Term] id: HP:0007201 name: Cerebral artery atherosclerosis def: "Atherosclerosis (HP:0002621) of a cerebral artery." [HPO:probinson] is_a: HP:0002621 ! Atherosclerosis is_a: HP:0009145 ! Abnormality of cerebral artery [Term] id: HP:0007204 name: Diffuse white matter abnormalities comment: This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging. is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007206 name: Hemimegalencephaly def: "Enlargement of all or parts of one cerebral hemisphere." [HPO:probinson, pmid:17416820] comment: The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia. xref: UMLS:C0431391 "Hemimegalencephaly" is_a: HP:0001355 ! Megalencephaly [Term] id: HP:0007207 name: Photosensitive tonic-clonic seizures def: "Generalized tonic-clonic seizures that are triggered by flashing or flickering light." [HPO:probinson] synonym: "Seizures, tonic-clonic, photosensitive" EXACT [] is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007208 name: Irregular myelin loops def: "Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.\n\n" [pmid:20301641, pmid:8817346] is_a: HP:0030173 ! Peripheral hypermyelination [Term] id: HP:0007209 name: Facial paralysis alt_id: HP:0007358 def: "Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve)." [HPO:probinson] comment: Facial paralysis can be caused by compression of the facial nerve. subset: hposlim_core xref: MeSH:D005158 "Facial paralysis" is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007210 name: Lower limb amyotrophy def: "Muscular atrophy affecting the lower limb." [HPO:probinson] is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007215 name: Periodic hyperkalemic paralysis def: "Episodes of muscle weakness associated with elevated levels of potassium in the blood." [HPO:probinson] synonym: "Hyperkalemic periodic paralysis" EXACT [] xref: MeSH:D020513 "Paralysis, Hyperkalemic Periodic" is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0007220 name: Demyelinating motor neuropathy def: "Demyelination of peripheral motor nerves." [HPO:probinson] comment: Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies. xref: UMLS:C1969462 "Demyelinating motor neuropathy" is_a: HP:0007108 ! Demyelinating peripheral neuropathy is_a: HP:0007178 ! Motor polyneuropathy [Term] id: HP:0007221 name: Progressive truncal ataxia is_a: HP:0002078 ! Truncal ataxia [Term] id: HP:0007227 name: Macrogyria def: "Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum." [HPO:probinson] is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0007229 name: Intracerebral periventricular calcifications def: "The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles." [HPO:probinson] xref: UMLS:C1837246 "Intracerebral periventricular calcifications" is_a: HP:0002514 ! Cerebral calcification property_value: HP:0040005 "The presence of `calcium deposition` (MPATH:36) in the cerebral white matter surrounding the cerebral ventricles." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007230 name: Decreased distal sensory nerve action potential def: "A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies." [HPO:probinson] is_a: HP:0007078 ! Decreased amplitude of sensory action potentials [Term] id: HP:0007232 name: Spinocerebellar tract disease in lower limbs is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0007233 name: Clusters of axonal regeneration def: "Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration." [HPO:jbaets] is_a: HP:0003450 ! Axonal regeneration [Term] id: HP:0007236 name: Recurrent subcortical infarcts is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0007238 name: Nonarteriosclerotic cerebral calcification synonym: "Cerebral calcification, nonarteriosclerotic" EXACT [] xref: UMLS:C0270685 "Cerebral calcification" is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007239 name: Congenital encephalopathy is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007240 name: Progressive gait ataxia alt_id: HP:0002142 def: "A type of gait ataxia displaying progression of clinical severity." [HPO:probinson] synonym: "Gait ataxia, progressive" EXACT [] xref: UMLS:C1843885 "Gait ataxia, progressive" is_a: HP:0002066 ! Gait ataxia property_value: HP:0040005 "A type of `gait ataxia` (HP:0002066) displaying progression of clinical severity." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007249 name: Decreased number of small peripheral myelinated nerve fibers xref: UMLS:C1850425 "Decreased small myelinated nerve fibers" is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers [Term] id: HP:0007250 name: Recurrent external ophthalmoplegia def: "Alternating and recurrent weakness of the external ocular muscles." [HPO:probinson] is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007256 name: Abnormal pyramidal signs alt_id: HP:0003488 alt_id: HP:0007161 alt_id: HP:0007225 alt_id: HP:0007275 alt_id: HP:0007324 alt_id: HP:0007347 def: "Functional neurological abnormalities related to dysfunction of the pyramidal tract." [HPO:probinson] comment: Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts. synonym: "Abnormal pyramidal signs" EXACT [] synonym: "Corticospinal signs" EXACT [] synonym: "PYRAMIDAL SIGNS" EXACT [] synonym: "Pyramidal tract signs" EXACT [] xref: UMLS:C0234132 "Pyramidal signs" is_a: HP:0002493 ! Upper motor neuron dysfunction property_value: HP:0040005 "Functional neurological abnormalities related to dysfunction of the `pyramidal tract` (FMA:72634)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007258 name: Severe demyelination of the white matter def: "A severe loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0007260 name: Type II lissencephaly alt_id: HP:0006853 def: "A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers." [HPO:probinson] synonym: "Cobblestone lissencephaly" EXACT [] synonym: "Lissencephaly type II" EXACT [] xref: MeSH:D054222 "Cobblestone Lissencephaly" xref: UMLS:C0431376 "Lissencephaly type II" is_a: HP:0001339 ! Lissencephaly property_value: HP:0040005 "A form of `lissencephaly` (HP:0001339) characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007262 name: Symmetric peripheral demyelination def: "A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0007263 name: Spinocerebellar atrophy def: "Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord." [HPO:probinson] xref: UMLS:C0087012 "Atrophy, Spinocerebellar" is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007265 name: Absent mesencephalon def: "Agenesis of the midbrain." [KI:phemming] comment: Midbrain and mesencephalon are synonymous. is_a: HP:0002418 ! Abnormality of midbrain morphology [Term] id: HP:0007266 name: Cerebral dysmyelination alt_id: HP:0007134 alt_id: HP:0007217 def: "Defective structure and function of myelin sheaths of the white matter of the brain." [HPO:probinson] synonym: "Areas of dysmyelination on MRI" EXACT [] synonym: "Dysmyelination of the brain" EXACT [] synonym: "White matter dysmyelination/demyelination" RELATED [] is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0007267 name: Chronic axonal neuropathy alt_id: HP:0003446 def: "An abnormality characterized by chronic impairment of the normal functioning of the axons." [HPO:probinson] comment: MERGED COMMENT:\nTARGET COMMENT: This feature can be assayed using electromyography (EMG).\n--------------------\nSOURCE COMMENT: This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves. synonym: "Chronic sural axonal neuropathy" EXACT [] is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0007268 name: Aprosencephaly xref: UMLS:C0431349 "Aprosencephaly" is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0007269 name: Spinal muscular atrophy def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:probinson] xref: UMLS:C0026847 "Spinal Muscular Atrophy" is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0007270 name: Atypical absence seizures def: "Absence seizures characterized by insidious begin and end and often prolonged duration, accompanied by slow spike-wave discharges on EEG." [HPO:probinson] xref: UMLS:C0595948 "Atypical absence seizures" is_a: HP:0002121 ! Absence seizures [Term] id: HP:0007271 name: Occipital myelomeningocele is_a: HP:0002436 ! Occipital meningocele [Term] id: HP:0007272 name: Progressive psychomotor deterioration alt_id: HP:0006856 synonym: "Progressive mental and motor deterioration" EXACT [] xref: UMLS:C1856565 "Progressive psychomotor deterioration" is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007274 name: Recurrent bacterial meningitis def: "An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis." [HPO:probinson] xref: UMLS:C1845604 "Recurrent bacterial meningitis" is_a: HP:0006946 ! Recurrent meningitis [Term] id: HP:0007277 name: Paucity of anterior horn motor neurons xref: UMLS:C0003154 "Anterior Horn Cells" is_a: HP:0002450 ! Abnormal motor neuron morphology [Term] id: HP:0007280 name: Acute infantile spinal muscular atrophy is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0007281 name: Developmental stagnation alt_id: HP:0007130 alt_id: HP:0007198 def: "A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills." [HPO:probinson] synonym: "Developmental arrest" EXACT [] xref: UMLS:C1848980 "Developmental arrest" is_a: HP:0012759 ! Neurodevelopmental abnormality [Term] id: HP:0007285 name: Facial palsy secondary to cranial hyperostosis def: "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [HPO:probinson] is_a: HP:0005465 ! Facial hyperostosis [Term] id: HP:0007286 name: Horizontal jerk nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other." [HPO:probinson] comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007289 name: Limb fasciculations alt_id: HP:0007049 def: "Fasciculations affecting the musculature of the arms and legs." [HPO:curators] synonym: "Limb fasciculation" EXACT [] xref: UMLS:C1854657 "Limb fasciculations" is_a: HP:0002380 ! Fasciculations [Term] id: HP:0007291 name: Posterior fossa cyst alt_id: HP:0006985 def: "A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle." [HPO:probinson, pmid:2816648] xref: UMLS:C1857353 "Posterior fossa cysts" is_a: HP:0000932 ! Abnormality of the posterior cranial fossa is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0007293 name: Anterior sacral meningocele xref: UMLS:C1867776 "Anterior sacral meningocele" is_a: HP:0005765 ! Sacral meningocele [Term] id: HP:0007295 name: Chaotic rapid conjugate ocular movements is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007299 name: Dysfunction of lateral corticospinal tracts is_a: HP:0002493 ! Upper motor neuron dysfunction [Term] id: HP:0007301 name: Oromotor apraxia xref: UMLS:C0003635 "Apraxia" is_a: HP:0002186 ! Apraxia [Term] id: HP:0007302 name: Bipolar affective disorder alt_id: HP:0000755 synonym: "Bipolar disorder" EXACT [] xref: MeSH:D001714 "Bipolar Disorder" xref: UMLS:C0005586 "Bipolar Disorder" is_a: HP:0000716 ! Depression is_a: HP:0100754 ! Mania [Term] id: HP:0007305 name: CNS demyelination alt_id: HP:0007222 def: "A loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] comment: CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes. synonym: "Demyelination in central white matter" EXACT [] is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0007307 name: Rapid neurologic deterioration is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007308 name: Extrapyramidal dyskinesia xref: UMLS:C1848528 "Extrapyramidal dyskinesia" is_a: HP:0002071 ! Abnormality of extrapyramidal motor function is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0007311 name: Short stepped shuffling gait is_a: HP:0002362 ! Shuffling gait [Term] id: HP:0007313 name: Cerebral degeneration alt_id: HP:0006874 synonym: "Neuroaxonal degeneration in the brain" EXACT [] xref: UMLS:C0154671 "Cerebral degeneration NOS" is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0007314 name: White matter neuronal heterotopia xref: UMLS:C1855774 "White matter neuronal heterotopia" is_a: HP:0002282 ! Heterotopia [Term] id: HP:0007316 name: Involuntary writhing movements xref: UMLS:C1845265 "Involuntary writhing movements" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0007321 name: Deep white matter hypodensities def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter." [HPO:probinson, pmid:16239634] xref: UMLS:C1856979 "Deep white matter hypodensities" is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI [Term] id: HP:0007325 name: Generalized dystonia def: "A type of dystonia that affects all or most of the body." [HPO:probinson] xref: UMLS:C1848954 "Generalised dystonia" is_a: HP:0001332 ! Dystonia property_value: HP:0040005 "A type of `dystonia` (HP:0001332) that affects all or most of the body." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007326 name: Progressive choreoathetosis xref: UMLS:C1860216 "Progressive choreoathetosis" is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007327 name: Mixed demyelinating and axonal polyneuropathy is_a: HP:0009830 ! Peripheral neuropathy is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007328 name: Impaired pain sensation alt_id: HP:0002713 def: "Reduced ability to perceive painful stimuli." [HPO:probinson] synonym: "Decreased pain sensation" EXACT [] xref: UMLS:C1837522 "Decreased pain sensation" is_a: HP:0010832 ! Abnormality of pain sensation [Term] id: HP:0007330 name: Frontal encephalocele xref: UMLS:C0431289 "Frontal Encephalocele" is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007332 name: Hemifacial seizures def: "Focal clonic seizures affecting one side of the face." [HPO:jalbers] comment: Used to describe rolandic seizures in familial epilepsy syndromes, such as Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (PMID 10072049). is_a: HP:0002266 ! Focal clonic seizures [Term] id: HP:0007333 name: Hypoplasia of the frontal lobes alt_id: HP:0002424 def: "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken] synonym: "Frontal lobe hypoplasia" EXACT [] synonym: "Hypoplastic frontal lobes" EXACT [] xref: UMLS:C1859453 "Hypoplastic frontal lobes" is_a: HP:0002538 ! Abnormality of the cerebral cortex is_a: HP:0006872 ! Cerebral hypoplasia property_value: HP:0040005 "Underdevelopment of the `frontal lobe` (FMA:61824) of the cerebrum." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0007334 name: Bilateral convulsive seizures alt_id: HP:0002602 def: "Bilateral convulsive seizures are focal seizure with secondary bilateral motor phenomena, not primary generalized seizures." [HPO:probinson] synonym: "Partial seizures with secondary generalization" EXACT [] synonym: "Secondary generalized tonic clonic seizures" EXACT [] synonym: "Secondary generalized tonic-clonic seizures" EXACT [] is_a: HP:0011153 ! Focal motor seizures [Term] id: HP:0007335 name: Recurrent encephalopathy alt_id: HP:0006947 def: "Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections." [HPO:probinson] synonym: "Recurrent cerebellar and extrapyramidal encephalopathy" EXACT [] is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007338 name: Hypermetric saccades def: "A saccade that overshoots the target with the dynamic saccade." [HPO:probinson, pmid:572501] xref: UMLS:C0423083 "Hypermetric saccades" is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0007340 name: Lower limb muscle weakness alt_id: HP:0002065 alt_id: HP:0002477 alt_id: HP:0009047 def: "Weakness of the muscles of the legs." [HPO:curators] comment: Inability to perform rapid, alternating movements. synonym: "LEG WEAKNESS" RELATED [HPO:skoehler] synonym: "Lower extremity weakness" EXACT [] synonym: "Lower limb weakness" EXACT [] synonym: "Muscle weakness in lower limbs" EXACT [] xref: UMLS:C1836296 "Lower limb weakness" is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0007341 name: Diffuse swelling of cerebral white matter is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007343 name: Limbic malformations xref: UMLS:C1863392 "Limbic malformations" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0007344 name: Atrophy/Degeneration involving the spinal cord synonym: "Atrophic and degenerative changes in the spinal cord" EXACT [] is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007346 name: Subcortical white matter calcifications xref: UMLS:C1851430 "Subcortical white matter calcifications" is_a: HP:0002500 ! Abnormality of the cerebral white matter is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007348 name: Hypoplasia of the pyramidal tract xref: UMLS:C1850871 "Pyramidal tract hypoplasia" is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract [Term] id: HP:0007350 name: Hyperreflexia in upper limbs is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007351 name: Upper limb postural tremor alt_id: HP:0007297 def: "A type of tremors that is triggered by holding an arm in a fixed position." [HPO:probinson] synonym: "Postural tremor of arms" EXACT [] xref: UMLS:C1867138 "Upper limb postural tremor" is_a: HP:0002174 ! Postural tremor is_a: HP:0200085 ! Limb tremor [Term] id: HP:0007352 name: Cerebellar calcifications xref: UMLS:C1851431 "Cerebellar calcifications" is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0007354 name: Amyotrophic lateral sclerosis xref: MeSH:D000690 "Amyotrophic Lateral Sclerosis" xref: UMLS:C0002736 "Amyotrophic Lateral Sclerosis" is_a: HP:0007373 ! Motor neuron atrophy [Term] id: HP:0007359 name: Focal seizures alt_id: HP:0002358 def: "Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere." [HPO:jalbers] comment: Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost). synonym: "Partial seizures" EXACT [] synonym: "Seizures, partial, afebrile" EXACT [] xref: UMLS:C0751495 "PARTIAL SEIZURES" is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2008-03-31T05:27:00Z [Term] id: HP:0007360 name: Aplasia/Hypoplasia of the cerebellum alt_id: HP:0006857 alt_id: HP:0007368 synonym: "Atrophy/Degeneration affecting the cerebellum" EXACT [] synonym: "Atrophy/Hypoplasia of the cerebellum" EXACT [] synonym: "Cerebellar hypoplasia/atrophy" EXACT [] is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:30:00Z [Term] id: HP:0007361 name: Abnormality of the pons def: "An abnormality of the pons." [HPO:probinson] comment: The pons is the portion of the brainstem superior to the medulla oblongata. is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0011283 ! Abnormality of the metencephalon property_value: HP:0040005 "An abnormality of the `pons` (FMA:67943)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-03-31T05:32:00Z [Term] id: HP:0007362 name: Aplasia/Hypoplasia of the brainstem is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:33:00Z [Term] id: HP:0007363 name: Aplasia/Hypoplasia of the pyramidal tract is_a: HP:0002062 ! Morphological abnormality of the pyramidal tract is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:41:00Z [Term] id: HP:0007364 name: Aplasia/Hypoplasia of the cerebrum is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:43:00Z [Term] id: HP:0007365 name: Aplasia/Hypoplasia involving the corticospinal tracts is_a: HP:0002492 ! Abnormality of the corticospinal tract is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:45:00Z [Term] id: HP:0007366 name: Atrophy/Degeneration affecting the brainstem is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:22:00Z [Term] id: HP:0007367 name: Atrophy/Degeneration affecting the central nervous system is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2008-04-01T10:23:00Z [Term] id: HP:0007369 name: Atrophy/Degeneration affecting the cerebrum def: "The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain." [HPO:probinson] is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012444 ! Brain atrophy property_value: HP:0040005 "The presence of atrophy (wasting) of the `cerebrum` (FMA:62000), also known as the telencephalon, the largest and most highly developed part of the human brain." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-01T10:28:00Z [Term] id: HP:0007370 name: Aplasia/Hypoplasia of the corpus callosum alt_id: HP:0007003 alt_id: HP:0007060 alt_id: HP:0007061 alt_id: HP:0007137 def: "Absence or underdevelopment of the corpus callosum." [HPO:probinson] synonym: "Absent/hypoplastic corpus callosum" EXACT [] synonym: "Agenesis/hypoplasic corpus collosum" EXACT [] synonym: "Hypoplasia or absence of the corpus callosum" EXACT [] synonym: "Hypoplastic or absent corpus callosum" EXACT [] is_a: HP:0001273 ! Abnormality of the corpus callosum is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum property_value: HP:0040005 "Absence or underdevelopment of the `corpus callosum` (FMA:86464)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-01T10:35:00Z [Term] id: HP:0007371 name: Corpus callosum atrophy alt_id: HP:0005712 def: "The presence of atrophy (wasting) of the corpus callosum." [HPO:sdoelken] synonym: "Atrophic corpus callosum" EXACT [] synonym: "Atrophy of the corpus callosum" EXACT [] synonym: "Atrophy/Degeneration of the corpus callosum" EXACT [] xref: UMLS:C1837332 "Atrophic corpus callosum" is_a: HP:0001273 ! Abnormality of the corpus callosum is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum is_a: HP:0012762 ! Cerebral white matter atrophy created_by: peter creation_date: 2008-04-01T10:36:00Z [Term] id: HP:0007372 name: Atrophy/Degeneration involving the corticospinal tracts is_a: HP:0002492 ! Abnormality of the corticospinal tract is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:38:00Z [Term] id: HP:0007373 name: Motor neuron atrophy def: "Wasting involving the motor neuron." [HPO:probinson] is_a: HP:0002450 ! Abnormal motor neuron morphology is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:39:00Z [Term] id: HP:0007374 name: Atrophy/Degeneration involving the caudate nucleus is_a: HP:0002339 ! Abnormality of the caudate nucleus is_a: HP:0012444 ! Brain atrophy created_by: peter creation_date: 2008-04-01T10:47:00Z [Term] id: HP:0007375 name: Abnormality of the septum pellucidum def: "An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [HPO:probinson] is_a: HP:0002060 ! Abnormality of the cerebrum property_value: HP:0040005 "An abnormality of the `septum pellucidum` (FMA:61844), which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-01T10:48:00Z [Term] id: HP:0007376 name: Abnormality of the choroid plexus def: "An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells." [HPO:probinson] comment: The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced. is_a: HP:0002118 ! Abnormality of the cerebral ventricles property_value: HP:0040005 "An abnormality of the `choroid plexus` (FMA:61934), which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-01T10:52:00Z [Term] id: HP:0007377 name: Abnormality of somatosensory evoked potentials def: "An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex." [HPO:curators] synonym: "Abnormality of SSEPs" EXACT [] is_a: HP:0030177 ! Abnormality of peripheral nervous system electrophysiology is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology created_by: peter creation_date: 2008-04-01T11:23:00Z [Term] id: HP:0007378 name: Neoplasm of the gastrointestinal tract def: "A tumor (abnormal growth of tissue) of the gastrointestinal tract." [HPO:probinson] synonym: "Gastrointestinal tract neoplasia" EXACT [] synonym: "Gastrointestinal tract neoplasm" EXACT [] synonym: "Gastrointestinal tract tumor" EXACT [] is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the gastrointestinal tract." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-01T11:55:00Z [Term] id: HP:0007379 name: Neoplasm of the genitourinary tract def: "A tumor (abnormal growth of tissue) of the genitourinary system." [HPO:probinson] synonym: "Genitourinary tract neoplasia" RELATED [] synonym: "Genitourinary tract neoplasm" EXACT [] synonym: "Genitourinary tract tumors" EXACT [] xref: UMLS:C0042065 "Genitourinary tract neoplasm" is_a: HP:0000119 ! Abnormality of the genitourinary system is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `genitourinary system` (FMA:280610)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-01T12:00:00Z [Term] id: HP:0007380 name: Facial telangiectasia alt_id: HP:0007520 def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:probinson] synonym: "Facial telangiectatic vessels" EXACT [] synonym: "Telangiectasia, facial" EXACT [] is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007381 name: Congenital exfoliative erythroderma is_a: HP:0001019 ! Erythroderma [Term] id: HP:0007383 name: Congenital localized absence of skin alt_id: HP:0007557 synonym: "Congenital localized skin absence" EXACT [] is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007384 name: Aberrant melanosome maturation xref: UMLS:C1969516 "Aberrant melanosome maturation" is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0007385 name: Aplasia cutis congenita of scalp alt_id: HP:0000994 alt_id: HP:0007568 def: "A developmental defect resulting in the congenital absence of skin on the scalp." [HPO:probinson] subset: hposlim_core synonym: "Defect of scalp" EXACT [] synonym: "Scalp aplasia cutis congenita" EXACT [] synonym: "Scalp defect" EXACT [] xref: UMLS:C1865046 "Scalp defect" is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007387 name: Hypoplastic sweat glands def: "Underdevelopment of the sweat glands." [HPO:curators] xref: UMLS:C1832455 "Hypoplastic sweat glands" is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands [Term] id: HP:0007390 name: Hyperkeratosis with erythema is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007392 name: Excessive wrinkled skin is_a: HP:0008067 ! Abnormally lax or hyperextensible skin is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0007394 name: Prominent superficial blood vessels alt_id: HP:0007577 synonym: "Prominent superficial vasculature" EXACT [] xref: UMLS:C1848771 "Prominent superficial vasculature" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0007395 name: Postnatal-onset ichthyosiform erythroderma def: "A type of ichthyosiform erythroderma with postnatal onset." [HPO:probinson] synonym: "Postnatal-onset ichthyosis" EXACT [] is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007396 name: Early cutaneous photosensitivity def: "Photosensitivity of the skin occurring early in life." [HPO:probinson] is_a: HP:0000992 ! Cutaneous photosensitivity [Term] id: HP:0007397 name: Axillary apocrine gland hypoplasia def: "Developmental hypoplasia of the apocrine sweat glands in the region of the axilla." [HPO:probinson] xref: UMLS:C1867003 "Axillary apocrine gland hypoplasia" is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands property_value: HP:0040005 "Developmental hypoplasia of the `apocrine sweat glands` (FMA:59155) in the region of the `axilla` (FMA:24864)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007398 name: Asymmetric, linear skin defects is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007400 name: Irregular hyperpigmentation xref: UMLS:C1860236 "Irregular hyperpigmentation" is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007401 name: Noninflammatory macular atrophy is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007402 name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007403 name: Hypertrophy of skin of soles is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007404 name: Nonepidermolytic palmoplantar keratoderma xref: UMLS:C1833030 "PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC" is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007406 name: Hyperpigmentation of eyelids is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007407 name: Excessive skin wrinkling on dorsum of hands and fingers is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007408 name: Tegumentary leishmaniasis susceptibility def: "Increased susceptibility to infection by the protozan parasite of the genus Leishmania." [HPO:probinson] is_a: HP:0005386 ! Recurrent protozoan infections [Term] id: HP:0007409 name: Absence of subcutaneous fat over entire body except buttocks, hips, and thighs is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0007410 name: Palmoplantar hyperhidrosis alt_id: HP:0007624 def: "An abnormally increased perspiration on palms and soles." [HPO:probinson] synonym: "Hyperhidrosis of palms and soles" EXACT [] xref: UMLS:C1274743 "Palmoplantar hyperhidrosis" is_a: HP:0000975 ! Hyperhidrosis is_a: HP:0100871 ! Abnormality of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007411 name: Hypoplastic-absent sebaceous glands xref: UMLS:C1844617 "Hypoplastic-absent sebaceous glands" is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007412 name: Macular hyperpigmented dermopathy is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0007413 name: Nevus flammeus of the forehead def: "Naevus flammeus localised in the skin of the forehead." [HPO:sdoelken] is_a: HP:0001052 ! Nevus flammeus property_value: HP:0040005 "`Naevus flammeus` (HP:0001052) localised in the skin of the forehead." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0007414 name: Neonatal wrinkled skin of hands and feet is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0007417 name: Discoid lupus erythematosus alt_id: HP:0000981 xref: MeSH:D008179 "Discoid Lupus Erythematosus" xref: UMLS:C0024138 "Lupus Erythematosus, Discoid" is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0007418 name: Alopecia totalis def: "Loss of all scalp hair." [HPO:probinson] xref: UMLS:C0263504 "Alopecia totalis" is_a: HP:0001596 ! Alopecia [Term] id: HP:0007420 name: Spontaneous hematomas def: "Spontaneous development of hematomas (hematoma) or bruises without significant trauma." [DDD:akelly] xref: UMLS:C1697453 "Spontaneous haematoma" is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0007421 name: Telangiectases of the cheeks def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [HPO:curators] synonym: "TELANGIECTASIA ON THE CHEEKS" RELATED [HPO:skoehler] is_a: HP:0007380 ! Facial telangiectasia [Term] id: HP:0007425 name: Hyperextensible skin of face is_a: HP:0007458 ! Focal hyperextensible skin [Term] id: HP:0007427 name: Reticulated skin pigmentation synonym: "RETICULAR PIGMENTATION PATTERN" RELATED [HPO:skoehler] synonym: "RETICULATE SKIN PIGMENTATION" RELATED [HPO:skoehler] is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007428 name: Telangiectasia of the oral mucosa def: "Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa." [HPO:probinson] is_a: HP:0000228 ! Oral cavity teleangiectasia property_value: HP:0040005 "`Telangiectasia` (MPATH:476) (that is, the presence of small dilated superficial blood vessels) of the oral mucosa." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007429 name: Few cafe-au-lait spots def: "The presence of two to five cafe-au-lait macules." [DDD:cmoss] is_a: HP:0000957 ! Cafe-au-lait spot [Term] id: HP:0007430 name: Generalized edema alt_id: HP:0007575 def: "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators] synonym: "Generalized tissue edema" EXACT [] xref: UMLS:C1850534 "Generalized tissue edema" is_a: HP:0000969 ! Edema [Term] id: HP:0007431 name: Congenital ichthyosiform erythroderma alt_id: HP:0007478 alt_id: HP:0007484 def: "An ichthyosiform abnormality of the skin with congenital onset." [HPO:probinson] synonym: "Congenital ichthyosis" EXACT [] synonym: "Ichthyosis, congenital" EXACT [] is_a: HP:0008064 ! Ichthyosis property_value: HP:0040005 "An `ichthyosiform abnormality of the skin` (HP:0008064) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007432 name: Intermittent generalized erythematous papular rash is_a: HP:0200034 ! Papule [Term] id: HP:0007434 name: Plaque-like facial hemangioma def: "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology." [HPO:probinson] synonym: "Hemangioma, facial, plaque-like" EXACT [] is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0007435 name: Diffuse palmoplantar keratoderma xref: MeSH:D015776 "Keratoderma, Palmoplantar, Diffuse" xref: UMLS:C0022584 "Diffuse palmoplantar keratoderma" is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007436 name: Hair-nail ectodermal dysplasia is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007437 name: Multiple cutaneous leiomyomas def: "The presence of multiple leiomyomas of the skin." [HPO:probinson] xref: UMLS:C1835485 "LEIOMYOMA, MULTIPLE CUTANEOUS" is_a: HP:0008069 ! Neoplasm of the skin property_value: HP:0040005 "The presence of `multiple` (PATO:0002118) `leiomyomas` (MPATH:425) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007438 name: Mottled pigmentation of the trunk and proximal extremities is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007439 name: Generalized keratosis follicularis is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0007440 name: Generalized hyperpigmentation alt_id: HP:0007540 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007441 name: Hyperpigmented/hypopigmented macules is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin is_a: HP:0012733 ! Macule [Term] id: HP:0007443 name: Partial albinism alt_id: HP:0001044 def: "Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs." [HPO:probinson] synonym: "Congenital partial albinism (leucoderma) on face, trunk, or limbs" EXACT [] synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT [] is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007446 name: Palmoplantar blistering def: "A type of blistering that affects the skin of the palms of the hands and the soles of the feet." [HPO:probinson] is_a: HP:0011356 ! Regional abnormality of skin is_a: HP:0100871 ! Abnormality of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007447 name: Diffuse palmoplantar hyperkeratosis synonym: "Hyperkeratosis, diffuse palmoplantar" EXACT [] is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007448 name: Hyperkeratosis over edematous areas is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0000969 ! Edema [Term] id: HP:0007449 name: Confetti-like hypopigmented macules xref: UMLS:C2047793 "hypopigmented macule" is_a: HP:0009719 ! Hypomelanotic macules [Term] id: HP:0007450 name: Increased groin pigmentation with raindrop depigmentation is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007451 name: Ipsilateral lack of facial sweating is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007452 name: Midface capillary hemangioma alt_id: HP:0007611 synonym: "Midfacial capillary hemangioma" EXACT [] xref: UMLS:C1849377 "Midfacial capillary hemangioma" is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007453 name: Flexural lichenification def: "Lichenification affecting primarily flexural areas of the skin." [HPO:probinson] comment: The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces. is_a: HP:0100725 ! Lichenification [Term] id: HP:0007455 name: Adermatoglyphia xref: UMLS:C1852150 "Adermatoglyphia" is_a: HP:0007477 ! Abnormal dermatoglyphics [Term] id: HP:0007456 name: Progressive reticulate hyperpigmentation is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007457 name: Prominent veins on trunk def: "Prominent thoracic and abdominal veins." [HPO:probinson] is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0007458 name: Focal hyperextensible skin is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007459 name: Generalized anhidrosis is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007460 name: Autoamputation of digits is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001218 ! Autoamputation [Term] id: HP:0007461 name: Hemangiomatosis xref: UMLS:C1384590 "Haemangiomatosis" is_a: HP:0001028 ! Hemangioma [Term] id: HP:0007462 name: Bitot spots of the conjunctiva def: "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot." [HPO:probinson] comment: Bitot spots can be a feature of vitamin A deficiency. synonym: "Bitot's spots" RELATED [] xref: UMLS:C0423178 "Bitot's spots" is_a: HP:0000502 ! Abnormality of the conjunctiva property_value: HP:0040005 "Keratinization of the `bulbar conjunctiva` (FMA:59024) near the limbus (corneoscleral junction), resulting in a raised spot." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007464 name: Sparse facial hair def: "Reduced number or density of facial hair." [HPO:probinson] is_a: HP:0008070 ! Sparse hair property_value: HP:0040005 "Reduced number or density of `facial hair`(FMA:54360)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007465 name: Honeycomb palmoplantar keratoderma xref: UMLS:C1866032 "Honeycomb palmoplantar keratoderma" is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007466 name: Midfrontal capillary hemangioma xref: UMLS:C1859339 "Midfrontal capillary hemangioma" is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007468 name: Perifollicular hyperkeratosis subset: hposlim_core xref: UMLS:C0870082 "Hyperkeratosis" is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007469 name: Palmoplantar cutis gyrata def: "Cutis gyrata of palms and soles." [HPO:probinson] synonym: "Cutis gyrata of palms and soles" EXACT [] is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0100871 ! Abnormality of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007470 name: Periarticular subcutaneous nodules def: "Subcutaneous nodules that are located in the vicinity of joints." [HPO:probinson] is_a: HP:0001482 ! Subcutaneous nodule [Term] id: HP:0007471 name: Axillary and groin hyperpigmentation and hypopigmentation is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007473 name: Crusting erythematous dermatitis is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0007475 name: Congenital bullous ichthyosiform erythroderma def: "An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet." [HPO:probinson] comment: Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature. synonym: "Bullous congenital ichthyosiform erythroderma" EXACT [] synonym: "Epidermolytic hyperkeratosis" EXACT [] xref: UMLS:C0343110 "Epidermolytic hyperkeratosis" is_a: HP:0007431 ! Congenital ichthyosiform erythroderma [Term] id: HP:0007476 name: Anhidrotic ectodermal dysplasia xref: UMLS:C0162359 "Anhidrotic ectodermal dysplasia" is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007477 name: Abnormal dermatoglyphics alt_id: HP:0007422 def: "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:probinson] subset: hposlim_core synonym: "Dermatoglyphic abnormalities" EXACT [] is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0007479 name: Congenital nonbullous ichthyosiform erythroderma alt_id: HP:0001021 alt_id: HP:0007388 alt_id: HP:0007512 alt_id: HP:0007619 alt_id: HP:0007625 def: "The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales." [HPO:sdoelken] synonym: "Collodion baby" EXACT [] synonym: "Congenital lamellar ichthyosis" EXACT [] synonym: "Congenital non-bullous ichthyosis" EXACT [] synonym: "Ichthyosis lammellaris" EXACT [] synonym: "Ichthyosis, congenital, nonblistering" EXACT [] synonym: "Nonbullous congenital ichthyosiform erythroderma" EXACT [] synonym: "Nonbullous congenital ichthyosis" EXACT [] xref: UMLS:C1850540 "Congenital lamellar ichthyosis" is_a: HP:0007431 ! Congenital ichthyosiform erythroderma [Term] id: HP:0007480 name: Decreased sweating due to autonomic dysfunction is_a: HP:0000966 ! Hypohidrosis [Term] id: HP:0007481 name: Hyperpigmented nevi xref: UMLS:C0746889 "Hyperpigmented nevi" is_a: HP:0000995 ! Melanocytic nevus [Term] id: HP:0007482 name: Generalized papillary lesions is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007483 name: Depigmentation/hyperpigmentation of skin is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007485 name: Absence of subcutaneous fat def: "Lack of subcutaneous adipose tissue." [HPO:probinson] synonym: "General absence of subcutaneous fat" EXACT [] is_a: HP:0008887 ! Adipose tissue loss property_value: HP:0040005 "Lack of `subcutaneous adipose tissue` (FMA:74315)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007486 name: Cavernous hemangioma of the face is_a: HP:0001048 ! Cavernous hemangioma [Term] id: HP:0007488 name: Diffuse skin atrophy is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0007489 name: Diffuse telangiectasia alt_id: HP:0007405 def: "Telangiectases (small dilated blood vessels) with a diffuse localization." [HPO:curators] synonym: "Diffuse telangiectases" EXACT [] synonym: "Telangiectases, random body distribution" EXACT [] xref: UMLS:C1265776 "Diffuse telangiectases" is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007490 name: Linear arrays of macular hyperkeratoses in flexural areas is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007494 name: Discrete 2 to 5-mm hyper- and hypopigmented macules is_a: HP:0007441 ! Hyperpigmented/hypopigmented macules [Term] id: HP:0007495 name: Prematurely aged appearance alt_id: HP:0001599 synonym: "Precociously senile appearance" EXACT [] xref: UMLS:C1857656 "Precociously senile appearance" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007497 name: Focal friction-related palmoplantar hyperkeratosis def: "Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction." [HPO:probinson] synonym: "Hyperkeratosis, palmoplantar, focal friction-related" EXACT [] is_a: HP:0000972 ! Palmoplantar hyperkeratosis property_value: HP:0040005 "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot in areas exposed to friction." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007499 name: Recurrent staphylococcal infections is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0007500 name: Decreased number of sweat glands alt_id: HP:0007555 alt_id: HP:0007594 def: "The presence of fewer than normal sweat glands." [HPO:probinson] synonym: "Decreased sweat glands" EXACT [] synonym: "Decreased sweat pores" EXACT [] is_a: HP:0000971 ! Abnormality of the sweat gland property_value: HP:0040005 "The presence of `fewer` (PATO:0001999) than normal `sweat glands` (FMA:59152)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007501 name: Streaks of hyperkeratosis along each finger onto the palm is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007502 name: Follicular hyperkeratosis alt_id: HP:0007600 def: "A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum." [HPO:probinson] subset: hposlim_core synonym: "Hyperkeratosis follicularis" EXACT [] xref: SNOMEDCT:81845009 "Follicular hyperkeratosis" xref: UMLS:C0334013 "Follicular hyperkeratosis" is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007503 name: Generalized ichthyosis is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007504 name: Diffuse slow skin atrophy is_a: HP:0007488 ! Diffuse skin atrophy [Term] id: HP:0007505 name: Progressive hyperpigmentation is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007506 name: Congenital absence of skin of limbs is_a: HP:0007383 ! Congenital localized absence of skin [Term] id: HP:0007508 name: Punctate palmar and solar hyperkeratosis is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007509 name: Patchy hypo- and hyperpigmentation alt_id: HP:0007487 synonym: "Patchy hypo- and hyper-pigmentation" EXACT [] is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007510 name: Focal dermal aplasia/hypoplasia is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007511 name: Mottled pigmentation of photoexposed areas is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007513 name: Generalized hypopigmentation alt_id: HP:0000984 alt_id: HP:0007419 subset: hposlim_core synonym: "Fair skin" EXACT [] synonym: "Pale pigmentation" EXACT [] xref: UMLS:C1849923 "Pale pigmentation" is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007514 name: Edema of the dorsum of hands alt_id: HP:0007528 def: "An abnormal accumulation of fluid beneath the skin on the back of the hands." [HPO:probinson] synonym: "Edema of dorsum of hands and feet" EXACT [] xref: MEDRA:10058204 "Oedema hands" xref: SNOMEDCT:102564009 "Edema of hand" xref: UMLS:C0239819 "Edema of hand" is_a: HP:0000969 ! Edema [Term] id: HP:0007515 name: Hypoplastic pilosebaceous units xref: UMLS:C1832454 "Hypoplastic pilosebaceous units" is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007516 name: Redundant skin on fingers def: "Loose and sagging skin of the fingers." [HPO:probinson] is_a: HP:0001582 ! Redundant skin [Term] id: HP:0007517 name: Palmoplantar cutis laxa alt_id: HP:0001016 def: "Loose, wrinkled skin of hands and feet." [HPO:probinson] synonym: "Excessive wrinkled skin (palms and soles)" EXACT [] synonym: "Furrowed palms and soles" EXACT [] synonym: "Increased wrinkles of palms and soles" EXACT [] synonym: "Wrinkled palms and soles" EXACT [] synonym: "Wrinkled skin of hands and feet" EXACT [] is_a: HP:0000973 ! Cutis laxa is_a: HP:0007605 ! Excessive wrinkling of palmar skin is_a: HP:0100871 ! Abnormality of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0007519 name: Lack of subcutaneous fatty tissue is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0007521 name: Irregular hyperpigmentation of back xref: UMLS:C1860236 "Irregular hyperpigmentation" is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007522 name: Increased number of skin folds is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007524 name: Atypical neurofibromatosis xref: UMLS:C0220695 "NEUROFIBROMATOSIS, ATYPICAL" is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007525 name: Yellow subcutaneous tissue covered by thin, scaly skin is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007526 name: Hypopigmented skin patches on arms is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0007529 name: Hidrotic ectodermal dysplasia xref: UMLS:C0162361 "Hidrotic Ectodermal Dysplasia" is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007530 name: Punctate palmoplantar hyperkeratosis is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007534 name: Congenital posterior occipital alopecia def: "Loss of hair in the occipital region of the scalp with congenital onset." [HPO:probinson] is_a: HP:0011361 ! Congenital abnormal hair pattern [Term] id: HP:0007535 name: Hypopigmented streaks xref: UMLS:C1866244 "Hypopigmented streaks" is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007536 name: Aplasia cutis congenita of midline scalp vertex is_a: HP:0004471 ! Aplasia cutis congenita over the scalp vertex [Term] id: HP:0007537 name: Severe photosensitivity def: "A severe degree of photosensitivity of the skin." [HPO:curators] xref: UMLS:C1849186 "Severe photosensitivity" is_a: HP:0000992 ! Cutaneous photosensitivity [Term] id: HP:0007541 name: Frontal cutaneous lipoma def: "Presence of a cutaneous lipoma on the forehead." [HPO:probinson] xref: UMLS:C1850970 "Frontal cutaneous lipoma" is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0012032 ! Lipoma [Term] id: HP:0007542 name: Absent pigmentation of the ventral chest def: "Lack of skin pigmentation (coloring) of the anterior chest." [HPO:probinson] is_a: HP:0040007 ! Absent pigmentation of chest [Term] id: HP:0007543 name: Epidermal hyperkeratosis xref: UMLS:C1848773 "Epidermal hyperkeratosis" is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007544 name: Piebaldism def: "Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution." [HPO:probinson] is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007545 name: Congenital palmoplantar keratosis xref: UMLS:C1855633 "Congenital palmoplantar keratosis" is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007546 name: Linear hyperpigmentation is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007548 name: Palmoplantar keratosis with erythema and scale is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007549 name: Desquamation of skin soon after birth is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007550 name: Hypohidrosis or hyperhidrosis is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007552 name: Abnormal subcutaneous fat tissue distribution xref: UMLS:C1859347 "Abnormal subcutaneous fat tissue distribution" is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007553 name: Congenital symmetrical palmoplantar keratosis xref: UMLS:C1855459 "Congenital symmetrical palmoplantar keratosis" is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007554 name: Confetti hypopigmentation pattern of lower leg skin is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007556 name: Plantar hyperkeratosis alt_id: HP:0007382 alt_id: HP:0007445 def: "Hyperkeratosis affecting the sole of the foot." [HPO:probinson] synonym: "Plantar hyperkeratoses" EXACT [] xref: UMLS:C1856954 "Plantar hyperkeratosis" is_a: HP:0000962 ! Hyperkeratosis property_value: HP:0040005 "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007559 name: Localized epidermolytic hyperkeratosis xref: UMLS:C0022584 "Diffuse palmoplantar keratoderma" is_a: HP:0008064 ! Ichthyosis [Term] id: HP:0007560 name: Unusual dermatoglyphics xref: UMLS:C0011624 "Dermatoglyphics" is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007561 name: Telangiectases in sun-exposed and nonexposed skin is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007565 name: Multiple cafe-au-lait spots alt_id: HP:0007416 def: "The presence of six or more cafe-au-lait spots." [DDD:cmoss] xref: UMLS:C1861975 "CAFE-AU-LAIT SPOTS, MULTIPLE" is_a: HP:0000957 ! Cafe-au-lait spot [Term] id: HP:0007566 name: Index finger dermatoglyphic radial loop is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007569 name: Generalized seborrheic dermatitis is_a: HP:0001051 ! Seborrheic dermatitis [Term] id: HP:0007570 name: Hyperkeratosis lenticularis perstans def: "Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa." [HPO:probinson] synonym: "Flegel disease" EXACT [] xref: UMLS:C0263420 "Hyperkeratosis lenticularis perstans" is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007572 name: Hyperpigmented streaks xref: UMLS:C1866245 "Hyperpigmented streaks" is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007573 name: Late onset atopic dermatitis is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007574 name: Generalized bronze hyperpigmentation is_a: HP:0007440 ! Generalized hyperpigmentation [Term] id: HP:0007576 name: Palmar neurofibromas is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007581 name: Mediosternal, longitudinal streak of hypopigmentation is_a: HP:0007535 ! Hypopigmented streaks [Term] id: HP:0007583 name: Telangiectasia macularis eruptiva perstans xref: UMLS:C0263402 "Telangiectasia macularis eruptiva perstans" is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007585 name: Skin fragility with non-scarring blistering is_a: HP:0001030 ! Fragile skin [Term] id: HP:0007586 name: Telangiectases producing 'marbled' skin is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007587 name: Numerous pigmented freckles xref: UMLS:C1968565 "Numerous pigmented freckles" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007588 name: Reticular hyperpigmentation alt_id: HP:0007579 def: "Increased pigmentation of the skin with a netlike (reticular) pattern." [HPO:probinson] synonym: "Reticulate hyperpigmentation" EXACT [] xref: UMLS:C1851972 "Reticulate hyperpigmentation" is_a: HP:0007400 ! Irregular hyperpigmentation [Term] id: HP:0007589 name: Aplasia cutis congenita on trunk or limbs def: "A developmental defect resulting in the congenital absence of skin on the trunk or the limbs." [HPO:curators] comment: In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs. is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007590 name: Aplasia cutis congenita over posterior parietal area is_a: HP:0004476 ! Aplasia cutis congenita over parietal area [Term] id: HP:0007592 name: Aplasia/Hypoplastia of the eccrine sweat glands def: "Absence or developmental hypoplasia of the eccrine sweat glands." [HPO:probinson] synonym: "Hypoplastic-absent eccrine sweat glands" EXACT [] xref: UMLS:C1844618 "Hypoplastic-absent eccrine sweat glands" is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands property_value: HP:0040005 "Absence or developmental hypoplasia of the `eccrine sweat glands` (FMA:59154)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007595 name: Redundant skin in infancy is_a: HP:0001582 ! Redundant skin [Term] id: HP:0007596 name: Painful subcutaneous lipomas def: "The presence of multiple subcutaneous lipoma that cause pain." [HPO:probinson] is_a: HP:0001031 ! Subcutaneous lipoma property_value: HP:0040005 "The presence of multiple subcutaneous `lipoma` (MPATH:417) that cause pain." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007597 name: Congenital palmoplantar keratodermia is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007598 name: Bilateral single transverse palmar creases def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands." [HPO:probinson] xref: UMLS:C1856138 "Bilateral single palmar creases" is_a: HP:0000954 ! Single transverse palmar crease [Term] id: HP:0007599 name: Generalized reticulate brown pigmentation is_a: HP:0007440 ! Generalized hyperpigmentation [Term] id: HP:0007601 name: Midline facial capillary hemangioma xref: UMLS:C1840310 "Midline facial capillary hemangioma" is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007602 name: Complex palmar dermatoglyphic pattern is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007603 name: Freckles in sun-exposed areas is_a: HP:0005586 ! Hyperpigmentation in sun-exposed areas [Term] id: HP:0007605 name: Excessive wrinkling of palmar skin alt_id: HP:0007531 synonym: "Redundant, wrinkled skin of palms" EXACT [] is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007606 name: Multiple cutaneous malignancies is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007607 name: Hypohidrotic ectodermal dysplasia xref: UMLS:C0162359 "Anhidrotic ectodermal dysplasia" is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007608 name: Abnormal palmar dermal ridges is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007609 name: Hypoproteinemic edema def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia)." [HPO:curators] is_a: HP:0000969 ! Edema [Term] id: HP:0007610 name: Blotching pigmentation of the skin is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007613 name: Spinous keratoses of palms and soles is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007616 name: Nevus flammeus nuchae def: "Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." [HPO:sdoelken] is_a: HP:0001052 ! Nevus flammeus property_value: HP:0040005 "`Naevus flammeus` (HP:0001052) localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0007617 name: Fine, reticulate skin pigmentation is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007618 name: Subcutaneous calcification def: "Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument)." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:17141001 "Subcutaneous calcification" xref: UMLS:C0263625 "Subcutaneous calcification" is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0007620 name: Cutaneous leiomyoma alt_id: HP:0007507 def: "The presence of leiomyoma of the skin." [HPO:probinson] comment: Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin. synonym: "Cutaneous leiomyomas" EXACT [] synonym: "Cutaneous leiomyomata" EXACT [] xref: UMLS:C0346064 "Cutaneous leiomyoma" is_a: HP:0008069 ! Neoplasm of the skin property_value: HP:0040005 "The presence of `leiomyoma` (MPATH:425) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007621 name: Telangiectasia of extensor surfaces is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007623 name: Pigmentation anomalies of sun-exposed skin is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007626 name: Mandibular osteomyelitis alt_id: HP:0005869 synonym: "Osteomyelitis, especially of the mandible" EXACT [] xref: UMLS:C1290708 "Mandibular osteomyelitis" is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0007627 name: Mandibular condyle aplasia xref: UMLS:C0399570 "Mandibular condyle aplasia" is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007628 name: Mandibular condyle hypoplasia xref: UMLS:C0399572 "Mandibular condyle hypoplasia" is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007633 name: Bilateral microphthalmos alt_id: HP:0001143 alt_id: HP:0001585 def: "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] synonym: "Microphthalmia, bilateral" EXACT [] xref: UMLS:C1837464 "Small eyes" is_a: HP:0000568 ! Microphthalmos [Term] id: HP:0007634 name: Nonarteritic anterior ischemic optic neuropathy def: "An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates." [HPO:probinson, pmid:17698200] comment: Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling. xref: UMLS:C1852242 "Nonarteritic anterior ischaemic optic neuropathy" is_a: HP:0001138 ! Optic neuropathy [Term] id: HP:0007641 name: Dyschromatopsia def: "A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments." [DDD:ncarter] is_a: HP:0000551 ! Abnormality of color vision [Term] id: HP:0007642 name: Congenital stationary night blindness alt_id: HP:0007684 alt_id: HP:0007861 alt_id: HP:0007953 def: "A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset." [HPO:probinson] comment: Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors. synonym: "Complete congenital stationary night blindness" EXACT [] synonym: "Congenital night blindness" EXACT [] synonym: "NIGHT BLINDNESS, CONGENITAL" RELATED [HPO:skoehler] synonym: "NIGHT BLINDNESS, CONGENITAL STATIONARY" RELATED [HPO:skoehler] synonym: "NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE" RELATED [HPO:skoehler] synonym: "NIGHT BLINDNESS, STATIONARY" RELATED [HPO:skoehler] synonym: "Static congenital hemeralopia" EXACT [] xref: UMLS:C0339535 "Congenital stationary night blindness" is_a: HP:0000662 ! Night blindness [Term] id: HP:0007643 name: Peripheral traction retinal detachment is_a: HP:0007917 ! Tractional retinal detachment [Term] id: HP:0007646 name: Absent lower eyelashes def: "Lack of eyelashes on the lower lid." [HPO:probinson] is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007647 name: Congenital extraocular muscle anomaly def: "Congenital abnormality of the extraocular muscles." [HPO:probinson] is_a: HP:0008049 ! Abnormality of the extraocular muscles property_value: HP:0040005 "Congenital abnormality of the `extraocular muscles` (FMA:49033)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007648 name: Punctate cataract def: "A type of cataract with punctate opacities of the lens." [HPO:probinson] synonym: "Punctate lenticular opacities" RELATED [] xref: UMLS:C1969675 "Punctate lenticular opacities" is_a: HP:0010920 ! Zonular cataract property_value: HP:0040005 "A type of cataract with punctate opacities of the `lens` (FMA:58241)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007649 name: Congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium." [DDD:ncarter] comment: This feature is found in around 3-5% of the population and is of no functional significance. is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007650 name: Progressive ophthalmoplegia xref: UMLS:C2062713 "progressive ophthalmoplegia" is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007651 name: Ectropion of lower eyelids synonym: "Everted lower eyelids" RELATED [] is_a: HP:0000656 ! Ectropion [Term] id: HP:0007654 name: Retinal striation xref: UMLS:C1849150 "Retinal striation" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007655 name: Eversion of lateral third of lower eyelids is_a: HP:0000656 ! Ectropion [Term] id: HP:0007656 name: Lacrimal gland aplasia def: "A congenital defect of development characterized by absence of the lacrimal gland." [HPO:probinson] is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007657 name: Diffuse nuclear cataract def: "Opacity of the entire lens nucleus." [HPO:probinson] is_a: HP:0100018 ! Nuclear cataract property_value: HP:0040005 "Opacity of the entire `lens nucleus` (FMA:58971)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007658 name: Large hyperpigmented retinal spots is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007659 name: Decreased retinal pigmentation with dispersion is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007661 name: Chorioretinal hypopigmentation or hyperpigmentation is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007663 name: Decreased central vision alt_id: HP:0001091 alt_id: HP:0007969 synonym: "Central visual loss" EXACT [] is_a: HP:0000505 ! Visual impairment is_a: HP:0000572 ! Visual loss [Term] id: HP:0007665 name: Curly eyelashes def: "Abnormally curly or curved eyelashes." [HPO:curators] subset: hposlim_core is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0007667 name: Cystic retinal degeneration xref: UMLS:C1839362 "Cystic retinal degeneration" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007668 name: Impaired pursuit initiation and maintenance is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007670 name: Abnormal vestibulo-ocular reflex def: "An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude." [HPO:probinson, pmid:3625219] synonym: "Abnormal vestibuloocular reflex" EXACT [] is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0007675 name: Progressive night blindness is_a: HP:0000662 ! Night blindness [Term] id: HP:0007676 name: Hypoplasia of the iris alt_id: HP:0000638 alt_id: HP:0007724 alt_id: HP:0007998 def: "Congenital underdevelopment of the iris." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic iris" EXACT [] synonym: "Iris hypoplasia" EXACT [] xref: UMLS:C0344539 "Hypoplastic iris" is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris property_value: HP:0040005 "Congenital underdevelopment of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007677 name: Vitelliform maculopathy alt_id: HP:0007878 def: "Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula." [DDD:gblack] synonym: "Vitelliform macular dystrophy" RELATED [] xref: UMLS:C0339510 "Vitelliform macular dystrophy" is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007678 name: Lacrimal duct stenosis alt_id: HP:0007669 def: "Narrowing of a tear duct (lacrimal duct)." [HPO:probinson] synonym: "Nasolacrimal duct stenosis" EXACT [] xref: UMLS:C0238300 "Nasolacrimal duct stenosis" is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0007680 name: Depigmented fundus is_a: HP:0001487 ! Hypopigmented fundi [Term] id: HP:0007685 name: Peripheral retinal avascularization xref: UMLS:C1851406 "Peripheral retinal avascularization" is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007686 name: Abnormal pupillary function def: "A functional abnormality of the pupil." [HPO:probinson] comment: It is preferable to describe the functional defect precisely. xref: MeSH:D011681 "Pupil Disorders" xref: UMLS:C0917967 "Pupillary Function, Abnormal" is_a: HP:0000615 ! Abnormality of the pupil property_value: HP:0040005 "A functional abnormality of the `pupil` (FMA:58252)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007687 name: Unilateral ptosis def: "A unilateral form of ptosis." [HPO:probinson] is_a: HP:0000508 ! Ptosis property_value: HP:0040005 "A `unilateral` (PATO:0000634) form of ptosis." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007688 name: Absent rod-and cone-mediated responses on ERG alt_id: HP:0003230 alt_id: HP:0008280 def: "Absence of the combined rod-and-code response on electroretinogram." [HPO:probinson] synonym: "Absent cone and rod functions by electroretinogram" EXACT [] synonym: "Absent cone and rod functions by electroretinogram (ERG)" EXACT [] is_a: HP:0008323 ! Abnormal rod and cone electroretinograms [Term] id: HP:0007690 name: Map-dot-fingerprint corneal dystrophy xref: UMLS:C0271285 "Map-dot-fingerprint corneal dystrophy" is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0007691 name: Short curly eyelashes is_a: HP:0007665 ! Curly eyelashes is_a: HP:0010764 ! Short eyelashes [Term] id: HP:0007692 name: Nonnuclear polymorphic congenital cataract xref: UMLS:C1832526 "CATARACT, POLYMORPHIC CONGENITAL" is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007695 name: Abnormal pupillary light reflex def: "An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye." [HPO:probinson] xref: UMLS:C1970591 "Abnormal pupillary light reflexes" is_a: HP:0007686 ! Abnormal pupillary function [Term] id: HP:0007697 name: Hypoplasia of the lower eyelids def: "Underdevelopment of the lower eyelid." [HPO:probinson] is_a: HP:0011226 ! Aplasia/Hypoplasia affecting the eyelid property_value: HP:0040005 "Underdevelopment of the `lower eyelid` (FMA:54442)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007698 name: Retinal pigment epithelial atrophy is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007700 name: Anterior segment dysgenesis alt_id: HP:0007696 alt_id: HP:0007699 alt_id: HP:0008040 def: "Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin." [DDD:ncarter] comment: In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. synonym: "Anterior chamber cleavage defect" EXACT [] synonym: "Anterior chamber cleavage disorder" EXACT [] synonym: "Anterior chamber malformation" EXACT [] synonym: "Anterior chamber mesodermal anomalies" EXACT [] synonym: "Anterior segment mesencyhmal dysgenesis" EXACT [] synonym: "Anterior segment ocular dysgenesis" EXACT [] xref: UMLS:C1849946 "Anterior chamber cleavage disorder" xref: UMLS:C1856042 "Anterior chamber malformation" xref: UMLS:C1862839 "ANTERIOR SEGMENT OCULAR DYSGENESIS" is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007702 name: Pigmentary retinal deposits alt_id: HP:0007821 alt_id: HP:0008010 synonym: "Retinal pigment clumping" EXACT [] is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007703 name: Abnormal retinal pigmentation alt_id: HP:0007741 xref: UMLS:C1862475 "Abnormal retinal pigmentation" is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007704 name: Paroxysmal involuntary eye movements def: "Sudden-onset episode of abnormal, involuntary eye movements." [HPO:probinson] synonym: "Abnormal eye movements, paroxysmal" EXACT [] is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007705 name: Corneal degeneration xref: UMLS:C0155118 "Corneal degeneration" is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0007707 name: Congenital primary aphakia def: "A developmental defect resulting in congenital absence of the crystalline lens." [HPO:probinson] xref: UMLS:C1853233 "Congenital primary aphakia" is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens [Term] id: HP:0007708 name: Absent inner eyelashes is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007709 name: Band-shaped corneal dystrophy xref: UMLS:C0155120 "CORNEAL DYSTROPHY, BAND-SHAPED" is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007710 name: Peripheral vitreous opacities is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007712 name: Choroidal dystrophy xref: UMLS:C0730291 "Choroidal dystrophy" is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0007713 name: Juvenile zonular cataracts xref: UMLS:C1849324 "Juvenile zonular cataracts" is_a: HP:0001118 ! Juvenile cataract [Term] id: HP:0007715 name: Weak extraocular muscles xref: UMLS:C1859436 "Weak extraocular muscles" is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0007716 name: Intraocular melanoma def: "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [HPO:curators] comment: WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid. synonym: "Uveal melanoma" EXACT [] is_a: HP:0002861 ! Melanoma is_a: HP:0100012 ! Neoplasm of the eye [Term] id: HP:0007717 name: Chronic irritative conjunctivitis def: "A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes." [HPO:curators] xref: UMLS:C0155145 "Chronic conjunctivitis NOS" is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0007720 name: Flat cornea def: "Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age." [HPO:probinson] synonym: "Cornea plana" EXACT [] is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0007721 name: Saccular conjunctival aneurysms def: "Presence of multiple aneurysms (sac-like outpouchings) in the blood vessels of the conjunctiva." [HPO:probinson] is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0007722 name: Loss of retinal pigment epithelium is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007727 name: Opacification of the corneal epithelium def: "Lack of transparency of the corneal epithelium." [DDD:gblack] synonym: "Superficial corneal opacities" EXACT [] xref: UMLS:C1849198 "Superficial corneal opacities" is_a: HP:0007957 ! Corneal opacity property_value: HP:0040005 "Lack of transparency of the `corneal epithelium` (FMA:58263)." xsd:string {xref="DDD:gblack"} [Term] id: HP:0007728 name: Congenital miosis def: "Abnormal (non-physiological) constriction of the pupil of congenital onset." [HPO:probinson] xref: UMLS:C1303009 "Congenital miosis" is_a: HP:0000616 ! Miosis [Term] id: HP:0007730 name: Iris hypopigmentation def: "An abnormal reduction in the amount of pigmentation of the iris." [HPO:probinson] synonym: "Reduced iris pigmentation" EXACT [] xref: UMLS:C1859179 "Reduced iris pigmentation" is_a: HP:0008034 ! Abnormal iris pigmentation property_value: HP:0040005 "An abnormal reduction in the amount of pigmentation of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007731 name: Chorioretinal dysplasia def: "Abnormal development of the choroid and retina." [HPO:probinson] xref: UMLS:C1835268 "Chorioretinal dysplasia" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007732 name: Lacrimal gland hypoplasia def: "Underdevelopment of the lacrimal gland." [HPO:probinson] synonym: "Hypoplastic lacrimal gland" EXACT [] xref: UMLS:C1863200 "Hypoplastic lacrimal gland" is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007733 name: Laterally curved eyebrow is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0007734 name: Enlarged lacrimal glands def: "Abnormally big lacrimal glands." [HPO:probinson] xref: UMLS:C1867030 "Enlarged lacrimal glands" is_a: HP:0011482 ! Abnormality of the lacrimal gland [Term] id: HP:0007736 name: Pericentral retinal dystrophy xref: UMLS:C0854723 "Retinal dystrophy" is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007737 name: Bony spicule pigmentary retinopathy alt_id: HP:0007644 alt_id: HP:0007683 alt_id: HP:0007823 def: "A term for the pigmented cells within the retina in retinitis pigmentosa because of their resemblance to the nucleated cells within the lacuna of bone." [HPO:probinson] synonym: "Bone corpuscle fundus pigmentation" EXACT [] synonym: "Fundus with peripheral bony spicules" EXACT [] synonym: "RETINAL 'BONE CORPUSCLE' PIGMENTATION" RELATED [HPO:skoehler] synonym: "Retinal bone corpuscle pigmentation" EXACT [] is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007738 name: Uncontrolled eye movements xref: UMLS:C1854686 "Uncontrolled eye movements" is_a: HP:0012547 ! Abnormal involuntary eye movements [Term] id: HP:0007739 name: Mildly reduced visual acuity is_a: HP:0000505 ! Visual impairment [Term] id: HP:0007740 name: Long eyelashes in irregular rows is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0007744 name: Iridoretinal coloboma def: "The presence of a coloboma affecting the iris and the retina." [HPO:probinson] synonym: "Coloboma of iris and retina" EXACT [] is_a: HP:0000612 ! Iris coloboma property_value: HP:0040005 "The presence of a coloboma affecting the `iris` (FMA:58235) and the retina." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007747 name: Monocular horizontal nystagmus is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007748 name: Irido-fundal coloboma def: "The presence of a coloboma of iris, choroid and retina." [HPO:probinson] comment: Irido-fundal coloboma occurs as a result of failure of closure of embryonic fissure in 6th to 8th week of intrauterine life. is_a: HP:0000612 ! Iris coloboma [Term] id: HP:0007750 name: Hypoplasia of the fovea def: "Underdevelopment of the fovea centralis." [HPO:probinson] synonym: "Foveal hypoplasia" EXACT [] xref: UMLS:C1969726 "FOVEAL HYPOPLASIA" is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea property_value: HP:0040005 "Underdevelopment of the `fovea centralis` (FMA:58658)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007754 name: Macular dystrophy alt_id: HP:0007638 alt_id: HP:0007914 alt_id: HP:0007999 def: "Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident." [HPO:probinson] subset: hposlim_core xref: UMLS:C0730292 "Macular dystrophy" is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007755 name: Juvenile epithelial corneal dystrophy xref: UMLS:C0339277 "Juvenile epithelial corneal dystrophy" is_a: HP:0200020 ! Corneal erosion [Term] id: HP:0007756 name: Slitlike anterior chamber angles in children is_a: HP:0000594 ! Shallow anterior chamber [Term] id: HP:0007757 name: Hypoplasia of choroid def: "Underdevelopment of the choroid." [HPO:probinson] is_a: HP:0001122 ! Aplasia/Hypoplasia of the choroid property_value: HP:0040005 "Underdevelopment of the `choroid` (FMA:58298)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007758 name: Congenital visual impairment is_a: HP:0000505 ! Visual impairment [Term] id: HP:0007759 name: Opacification of the corneal stroma alt_id: HP:0000515 alt_id: HP:0007662 alt_id: HP:0007896 alt_id: HP:0007966 def: "Reduced transparency of the stroma of cornea." [DDD:gblack] synonym: "Cloudy cornea" EXACT [] synonym: "CLOUDY CORNEAS" RELATED [HPO:skoehler] synonym: "Corneal stromal opacity" EXACT [] is_a: HP:0007957 ! Corneal opacity is_a: HP:0011492 ! Abnormality of corneal stroma property_value: HP:0040005 "Reduced transparency of the `stroma of cornea` (FMA:58306)." xsd:string {xref="DDD:gblack"} [Term] id: HP:0007760 name: Crystalline corneal dystrophy xref: UMLS:C0271287 "Crystalline corneal dystrophy" is_a: HP:0007856 ! Punctate opacification of the cornea [Term] id: HP:0007761 name: Pericentral scotoma def: "A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point." [HPO:probinson] xref: UMLS:C1321308 "Pericentral scotoma" is_a: HP:0000575 ! Scotoma [Term] id: HP:0007763 name: Retinal telangiectasia def: "Dilatation of small blood vessels of the retina." [HPO:probinson] subset: hposlim_core xref: UMLS:C0154835 "Retinal telangiectasia" is_a: HP:0001009 ! Telangiectasia is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007765 name: Deep anterior chamber def: "Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased." [HPO:probinson] comment: Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos. is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007766 name: Optic disc hypoplasia alt_id: HP:0007794 alt_id: HP:0007890 def: "Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve." [HPO:probinson] synonym: "Hypoplastic optic disks" EXACT [] xref: UMLS:C1836048 "Hypoplastic optic disks" is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0007768 name: Central retinal vessel vascular tortuosity alt_id: HP:0008015 def: "The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules)." [HPO:probinson] synonym: "Tortuosity of main retinal vessels" EXACT [] is_a: HP:0000631 ! Retinal arterial tortuosity is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007769 name: Peripheral retinal degeneration alt_id: HP:0007805 xref: UMLS:C1320640 "Peripheral retinal degeneration NOS" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007770 name: Retinal hypoplasia xref: UMLS:C1854685 "Retinal hypoplasia" is_a: HP:0008061 ! Aplasia/Hypoplasia affecting the retina [Term] id: HP:0007772 name: Impaired smooth pursuit alt_id: HP:0008029 def: "An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion." [HPO:probinson] subset: hposlim_core synonym: "Abnormal visual pursuit" RELATED [] xref: UMLS:C1837458 "Impaired smooth pursuit" xref: UMLS:C1848530 "Abnormal visual pursuit" is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007773 name: Vitreoretinal abnormalities xref: UMLS:C1850109 "vitreoretinal abnormalities" is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007774 name: Hypoplasia of the ciliary body def: "Underdevelopment of the ciliary body." [HPO:probinson] is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0012776 ! Abnormality of the ciliary body property_value: HP:0040005 "Underdevelopment of the `ciliary body` (FMA:58295)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007776 name: Sparse lower eyelashes alt_id: HP:0007785 synonym: "Partial absence of lower eyelashes" EXACT [] is_a: HP:0000653 ! Sparse eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes [Term] id: HP:0007777 name: Chorioretinal scars xref: UMLS:C2004491 "Scars" is_a: HP:0000532 ! Chorioretinal abnormality is_a: HP:0100699 ! Scarring [Term] id: HP:0007778 name: Neovascularization of peripheral and posterior retina is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007779 name: Anterior segment of eye aplasia is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye [Term] id: HP:0007780 name: Cortical pulverulent cataract def: "A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens." [HPO:probinson] synonym: "Cataracts, cortical pulverulent" EXACT [] is_a: HP:0010693 ! Pulverulent Cataract [Term] id: HP:0007782 name: Peripheral retinal cone degeneration xref: UMLS:C1836948 "Peripheral retinal cone degeneration" is_a: HP:0007769 ! Peripheral retinal degeneration [Term] id: HP:0007783 name: Butterfly retinal pigment epithelial dystrophy def: "Butterfly-shed retinal pigmentation at the level of the retinal pigment epithelium." [pmid:11934323] comment: The central lesion is demonstrable by fluorescein angiography. is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007786 name: Lacunar retinal depigmentation is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007787 name: Posterior subcapsular cataract alt_id: HP:0007666 alt_id: HP:0007857 def: "A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule." [HPO:probinson] synonym: "POSTERIOR SUBCAPSULAR CATARACTS" RELATED [HPO:skoehler] synonym: "Posterior subcapsular opacities of the lens" EXACT [] xref: UMLS:C0858617 "Posterior subcapsular cataract" is_a: HP:0000523 ! Subcapsular cataract property_value: HP:0040005 "A type of cataract affecting the `posterior pole of lens` (FMA:58898) immediately adjacent to ('beneath') the `Lens capsule` (FMA:58881)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007791 name: Patchy atrophy of the retinal pigment epithelium is_a: HP:0007698 ! Retinal pigment epithelial atrophy [Term] id: HP:0007792 name: Microsaccadic pursuit xref: UMLS:C1843892 "Microsaccadic pursuit" is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007793 name: Macular retinal pigment epithelial mottling def: "Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea." [HPO:probinson] xref: UMLS:C1842624 "Bilateral macular retinal pigment epithelial mottling" is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: HP:0040005 "Mottled (spotted or blotched with different shades) pigmentary abnormality of the `macula lutea` (FMA:58637)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007795 name: Anterior cortical cataract def: "A cataract that affects the anterior part of the cortex of the lens." [HPO:probinson] xref: UMLS:C1857308 "Anterior cortical cataracts" is_a: HP:0100019 ! Cortical cataract property_value: HP:0040005 "A `cataract` (HP:0000518) that affects the anterior part of the `cortex of the lens` (FMA:58970)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007797 name: Retinal vascular malformation xref: UMLS:C1861791 "Retinal vascular malformations" is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007798 name: Foveal dystrophy alt_id: HP:0007919 def: "This term has been used as a general description of degeneration of the fovea. It is preferable to provide an exact phenotypic description." [HPO:probinson] synonym: "Progressive foveal dystrophy" EXACT [] xref: UMLS:C0730294 "FOVEAL DYSTROPHY, PROGRESSIVE" is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007799 name: Conjunctival whitish salt-like deposits def: "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis." [HPO:probinson] is_a: HP:0000502 ! Abnormality of the conjunctiva property_value: HP:0040005 "The presence of whitish deposits in the `conjunctiva` (FMA:59011) resembling salt. May be related to calcinosis." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007800 name: Increased axial globe length def: "Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean." [DDD:ncarter] xref: UMLS:C1835117 "Increased axial globe length" is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0007801 name: Fishnet retinal pigmentation xref: UMLS:C0151892 "Retinal pigmentation" is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007802 name: Granular corneal dystrophy def: "The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material." [HPO:curators] xref: UMLS:C0018179 "Granular corneal dystrophy" is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007803 name: Monochromacy alt_id: HP:0007954 def: "Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray." [DDD:gblack] comment: Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey. synonym: "Complete achromatopsia" EXACT [] synonym: "TOTAL COLORBLINDNESS" RELATED [HPO:skoehler] is_a: HP:0000551 ! Abnormality of color vision [Term] id: HP:0007807 name: Optic nerve compression alt_id: HP:0008495 xref: UMLS:C0271344 "Optic nerve compression" is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007808 name: Bilateral retinal coloboma is_a: HP:0000480 ! Retinal coloboma [Term] id: HP:0007809 name: Punctate corneal dystrophy is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007810 name: Progressive bifocal chorioretinal atrophy xref: UMLS:C1833321 "CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL" is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007811 name: Horizontal pendular nystagmus alt_id: HP:0200069 def: "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [HPO:probinson] comment: Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other. synonym: "Nystagmus, congenital horizontal" EXACT [] xref: UMLS:C1866180 "Horizontal pendular nystagmus" is_a: HP:0000666 ! Horizontal nystagmus is_a: HP:0006934 ! Congenital nystagmus is_a: HP:0012043 ! Pendular nystagmus [Term] id: HP:0007812 name: Herpetiform corneal ulceration def: "The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining." [HPO:probinson] synonym: "Herpetiform corneal ulcers" EXACT [] is_a: HP:0012804 ! Corneal ulceration [Term] id: HP:0007813 name: Nongranulomatous uveitis def: "A form of uveitis that is not associated with the formation of granulomas." [HPO:probinson] is_a: HP:0000554 ! Uveitis property_value: HP:0040005 "A form of `uveitis` (HP:0000554) that is not associated with the formation of granulomas." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007814 name: Salt and pepper retinopathy alt_id: HP:0001124 def: "Mottling (Spots or blotches with different shades) of the retinal pigment epithelium." [HPO:probinson] synonym: "Salt and pepper retinal pigmentation" EXACT [] xref: UMLS:C1857644 "Salt and pepper retinal pigmentation" is_a: HP:0011512 ! Hyperpigmentation of the fundus [Term] id: HP:0007815 name: Abnormal distribution of retinal arterioles and venules is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007817 name: Horizontal supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson] is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0007818 name: Central heterochromia def: "The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone." [HPO:probinson] synonym: "Ring iris heterochromia" EXACT [] is_a: HP:0001100 ! Heterochromia iridis [Term] id: HP:0007819 name: Presenile cataracts alt_id: HP:0007848 def: "Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual." [HPO:probinson, pmid:17030721] comment: Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age. synonym: "Presenile cataract" EXACT [] xref: UMLS:C0154971 "Presenile cataract, NOS" is_a: HP:0000518 ! Cataract [Term] id: HP:0007820 name: Atretic lacrimal punctum def: "Congenital absence or closure of the opening of the lacrimal punctum." [HPO:probinson] synonym: "Atretic lacrimal puncta" EXACT [] xref: UMLS:C1863201 "Atretic lacrimal puncta" is_a: HP:0011479 ! Abnormality of the lacrimal punctum [Term] id: HP:0007822 name: Central retinal exudate is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007824 name: Total ophthalmoplegia def: "Paralysis of both the extrinsic and intrinsic ocular muscles." [HPO:probinson] synonym: "Complete ophthalmoplegia" EXACT [] synonym: "Total internal and external ophthalmoplegia" EXACT [] xref: UMLS:C0155338 "Total ophthalmoplegia" is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007825 name: obsolete Cataracts develop in second or third decade is_obsolete: true replaced_by: HP:0000518 [Term] id: HP:0007827 name: Nodular corneal dystrophy is_a: HP:0011494 ! Generalized opacification of the cornea [Term] id: HP:0007829 name: Diffuse retinal cone degeneration is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007830 name: Adult-onset night blindness def: "Inability to see well at night or in poor light with onset in adulthood." [HPO:probinson] is_a: HP:0000662 ! Night blindness [Term] id: HP:0007831 name: Nonprogressive restrictive external ophthalmoplegia alt_id: HP:0007682 def: "Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [HPO:probinson] is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007832 name: Pigmentation of the sclera is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0007833 name: Anterior chamber synechiae is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007834 name: Progressive cataract alt_id: HP:0007828 def: "A kind of cataract that progresses with age." [HPO:probinson] synonym: "Cataract, progressive" EXACT [] is_a: HP:0000518 ! Cataract property_value: HP:0040005 "A kind of `cataract` that progresses with age." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007835 name: S-shaped palpebral fissures is_a: HP:0200005 ! Abnormal shape of the palpebral fissure [Term] id: HP:0007836 name: Mosaic corneal dystrophy is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007838 name: Progressive ptosis def: "A progressive form of ptosis." [HPO:probinson] is_a: HP:0000508 ! Ptosis property_value: HP:0040005 "A `progressive` (PATO:0001818) form of `ptosis` (HP:0000508)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007840 name: Long upper eyelashes def: "Increased length of the upper eyelashes." [HPO:probinson] is_a: HP:0000527 ! Long eyelashes is_a: HP:0040051 ! Abnormality of upper eyelashes [Term] id: HP:0007841 name: Amyloid deposition in the vitreous humor is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007843 name: Attenuation of retinal blood vessels is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007850 name: Retinal vascular proliferation xref: UMLS:C0035320 "Retinal vascular proliferation" is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007851 name: Temporal displacement of maculae is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007852 name: Pericentral pigmentary retinopathy xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007854 name: Glaucomatous visual field defect xref: UMLS:C1299694 "Glaucomatous visual field defect" is_a: HP:0001123 ! Visual field defect [Term] id: HP:0007856 name: Punctate opacification of the cornea alt_id: HP:0008004 def: "Punctate opacification (reduced transparency) of the corneal stroma." [DDD:gblack] synonym: "Punctate corneal opacities" EXACT [] is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0007858 name: Chorioretinal lacunae def: "Punched out lesions in the pigmented layer of the retina." [HPO:probinson] comment: A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. subset: hposlim_core xref: UMLS:C1844751 "Chorioretinal lacunae" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007859 name: Congenital horizontal nystagmus def: "Horizontal nystagmus dating from or present at birth." [HPO:curators] is_a: HP:0000666 ! Horizontal nystagmus is_a: HP:0006934 ! Congenital nystagmus [Term] id: HP:0007862 name: Retinal calcification def: "Deposition of calcium salts in the retina." [HPO:probinson] xref: UMLS:C1867289 "Retinal calcification" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0007863 name: Retinal lesions def: "Retinal lesions can occur due to multiple reasons for example as a result of decreased blood supply to the retina, angiomas in case of von Hipple-Lindau disease, disseminated bacterial and candidal infections, astrocytic hamartomas (so called phakomas) and many more." [HPO:sdoelken] xref: UMLS:C1402302 "RETINAL LESION" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007866 name: Focal retinal infarction is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007867 name: Restrictive partial external ophthalmoplegia def: "Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position." [HPO:probinson] xref: UMLS:C1836265 "Restrictive partial ophthalmoplegia" is_a: HP:0007936 ! Restrictive external ophthalmoplegia [Term] id: HP:0007868 name: Age-related macular degeneration def: "Age-related macular degeneration (AMD) is a medical condition which usually affects older adults and results in a loss of vision in the center of the visual field (the macula) because of damage to the retina." [DDD:gblack] synonym: "Senile macular degeneration" EXACT [] xref: UMLS:C0242383 "Senile macular degeneration" is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007869 name: Peripheral retinopathy xref: UMLS:C1857401 "Peripheral retinopathy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007872 name: Choroidal hemangiomata def: "The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas." [HPO:probinson] comment: Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic. xref: UMLS:C0346390 "Choroidal hemangiomata" is_a: HP:0000610 ! Abnormality of the choroid is_a: HP:0001028 ! Hemangioma [Term] id: HP:0007873 name: Abnormally prominent line of Schwalbe alt_id: HP:0007940 synonym: "Prominent Schwalbe lines" EXACT [] xref: UMLS:C1835199 "Prominent Schwalbe lines" is_a: HP:0008048 ! Abnormality of the line of Schwalbe [Term] id: HP:0007874 name: Almond-shaped palpebral fissure def: "A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point." [pmid:19125427] comment: The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow. subset: hposlim_core is_a: HP:0200005 ! Abnormal shape of the palpebral fissure [Term] id: HP:0007875 name: Congenital blindness alt_id: HP:0007706 def: "Blindness with onset at birth." [HPO:probinson] synonym: "Congenital amaurosis" EXACT [] xref: UMLS:C0005754 "Congenital blindness" is_a: HP:0000618 ! Blindness [Term] id: HP:0007876 name: Juvenile cortical cataract xref: UMLS:C1863409 "Juvenile cortical cataract" is_a: HP:0001118 ! Juvenile cataract [Term] id: HP:0007879 name: Allergic conjunctivitis def: "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva." [HPO:probinson] xref: MeSH:D003233 "Conjunctivitis, Allergic" xref: UMLS:C0009766 "Allergic Conjunctivitis" is_a: HP:0000509 ! Conjunctivitis is_a: HP:0012393 ! Allergy property_value: HP:0040005 "Allergic Conjunctivitis is an allergic inflammation of the `conjunctiva` (FMA:59011)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007880 name: Marginal corneal dystrophy is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007881 name: Central corneal dystrophy is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0007885 name: Slowed horizontal saccades def: "An abnormally slow velocity of horizontal saccadic eye movements." [HPO:probinson] comment: Saccades are rapid eye movements that align the fovea with the target. xref: UMLS:C1856477 "Slowed horizontal saccades" is_a: HP:0000514 ! Slow saccadic eye movements [Term] id: HP:0007886 name: Absent extraocular muscles def: "Congenital absence of the extraocular muscles." [HPO:probinson] synonym: "Absent ocular muscles" RELATED [] xref: UMLS:C1408781 "Absent ocular muscles" is_a: HP:0008049 ! Abnormality of the extraocular muscles property_value: HP:0040005 "Congenital absence of the `extraocular muscles` (FMA:49033)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007889 name: Iridescent posterior subcapsular cataract def: "A type of posterior subcapsular cataract characterized by an iridescent color." [HPO:probinson, pmid:7826272] synonym: "Cataracts, posterior, subcapsular, iridescent" EXACT [] is_a: HP:0007787 ! Posterior subcapsular cataract property_value: HP:0040005 "A type of `posterior subcapsular cataract` (HP:0007787) characterized by an iridescent color." xsd:string {xref="HPO:probinson", xref="pmid:7826272"} [Term] id: HP:0007892 name: Hypoplasia of the lacrimal puncta def: "Underdevelopment of the lacrimal puncta." [HPO:probinson] synonym: "Hypoplastic lacrimal puncta" EXACT [] is_a: HP:0011479 ! Abnormality of the lacrimal punctum [Term] id: HP:0007893 name: Progressive retinal degeneration alt_id: HP:0007790 synonym: "Retinal degeneration, progressive" EXACT [] xref: UMLS:C1854888 "Progressive retinal degeneration" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007894 name: Hypopigmentation of the fundus alt_id: HP:0001111 alt_id: HP:0007746 alt_id: HP:0007752 def: "Decreased amount of pigmentation of the retina." [HPO:probinson] synonym: "Decreased retinal pigmentation" EXACT [] synonym: "Retinal depigmentation" EXACT [] synonym: "Retinal hypopigmentation" EXACT [] xref: UMLS:C0151891 "Retinal depigmentation" xref: UMLS:C1855777 "Retinal hypopigmentation" xref: UMLS:C1860160 "Decreased retinal pigmentation" is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007898 name: Exudative retinopathy xref: UMLS:C0154832 "Exudative retinopathy" is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007899 name: Retinal nonattachment alt_id: HP:0007849 def: "Failure of attachment of the retina during development." [HPO:probinson, pmid:21441919] synonym: "Congenital retinal non-attachment" EXACT [] is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007900 name: Hypoplastic lacrimal duct xref: UMLS:C1968574 "Hypoplastic lacrimal duct" is_a: HP:0011481 ! Abnormality of the lacrimal duct [Term] id: HP:0007901 name: Retinal malformation alt_id: HP:0007938 synonym: "Retinal malformations" EXACT [] xref: UMLS:C1856041 "Retinal malformations" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007902 name: Vitreous hemorrhage def: "Bleeding within the vitreous compartment of the eye." [DDD:akelly] subset: hposlim_core synonym: "Vitreous haemorrhage" RELATED [] xref: MeSH:D014823 "Vitreous hemorrhage" xref: UMLS:C0042909 "Vitreous Hemorrhage" is_a: HP:0004327 ! Abnormality of the vitreous humor is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0011885 ! Hemorrhage of the eye [Term] id: HP:0007903 name: Pigmented paravenous chorioretinal atrophy def: "Bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins." [HPO:probinson, pmid:15623792] xref: UMLS:C1868310 "PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY" is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007905 name: Abnormal iris vasculature is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0008047 ! Abnormality of the vasculature of the eye [Term] id: HP:0007906 name: Increased intraocular pressure xref: UMLS:C0234708 "Increased intraocular pressure" is_a: HP:0000501 ! Glaucoma is_a: HP:0012632 ! Abnormal intraocular pressure [Term] id: HP:0007910 name: Nonprogressive congenital retinal dystrophy def: "A form or retinal dystrophy that is present at birth and does not further progress." [HPO:probinson] synonym: "Retinal dystrophy, congenital, nonprogressive" EXACT [] is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007911 name: Congenital bilateral ptosis alt_id: HP:0007719 alt_id: HP:0007955 synonym: "Ptosis, bilateral congenital" EXACT [] synonym: "Ptosis, congenital bilateral" EXACT [] xref: UMLS:C1836264 "Ptosis, congenital bilateral" is_a: HP:0001488 ! Bilateral ptosis is_a: HP:0007970 ! Congenital ptosis [Term] id: HP:0007913 name: Reticular retinal dystrophy is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007915 name: Polymorphous posterior corneal dystrophy def: "This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma." [HPO:probinson] is_a: HP:0011489 ! Abnormal migration of corneal endothelium is_a: HP:0011491 ! Reduced number of corneal endothelial cells [Term] id: HP:0007916 name: obsolete Small anterior lens surface opacities is_obsolete: true consider: HP:0007795 [Term] id: HP:0007917 name: Tractional retinal detachment def: "A type of retinal detachment associated with traction exerted by fibrous or fibrovascular tissue. The fibrous tissue is visible in the vitreous and may be the result of injury, inflammation or neovascularization. If such membranes contract, they pull the sensory retina apart from the underlying retinal pigment epithelium." [HPO:probinson] xref: UMLS:C1866178 "Tractional retinal detachment" is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007920 name: Congenital chorioretinal dystrophy xref: UMLS:C0332870 "Congenital dystrophy" is_a: HP:0001135 ! Chorioretinal dystrophy [Term] id: HP:0007922 name: Hypermyelinated retinal fibers xref: UMLS:C1849151 "Hypermyelinated retinal fibers" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0012447 ! Abnormal myelination [Term] id: HP:0007923 name: Foveal hyperplasia is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007924 name: Slow decrease in visual acuity alt_id: HP:0007652 synonym: "DECREASED VISUAL ACUITY, SLOWLY PROGRESSIVE" RELATED [HPO:skoehler] synonym: "Subacute deterioration of visual acuity" EXACT [] is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0007925 name: Lacrimal duct aplasia def: "A congenital defect resulting in absence of the lacrimal duct." [HPO:probinson] is_a: HP:0011481 ! Abnormality of the lacrimal duct [Term] id: HP:0007928 name: Abnormal flash visual evoked potentials def: "Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room." [HPO:probinson] is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0007929 name: Peripheral retinal detachment is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007930 name: Prominent epicanthal folds xref: UMLS:C1697450 "Prominent epicanthal folds" is_a: HP:0000286 ! Epicanthus [Term] id: HP:0007932 name: Bilateral congenital mydriasis def: "Congenital abnormal dilation of the pupil on both sides." [HPO:probinson] is_a: HP:0011499 ! Mydriasis [Term] id: HP:0007933 name: Broad lateral eyebrow def: "Regional increase in the width (height) of the lateral eyebrow." [HPO:probinson] xref: UMLS:C1837733 "Broad lateral eyebrows" is_a: HP:0011229 ! Broad eyebrow [Term] id: HP:0007935 name: Juvenile posterior subcapsular lenticular opacities xref: UMLS:C1863408 "Juvenile posterior subcapsular lenticular opacities" is_a: HP:0007787 ! Posterior subcapsular cataract [Term] id: HP:0007936 name: Restrictive external ophthalmoplegia alt_id: HP:0007846 alt_id: HP:0007959 alt_id: HP:0008025 def: "Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited." [HPO:probinson] synonym: "Restrictive external opthalmoplegia, bilateral" RELATED [] synonym: "Restrictive ophthalmoplegia" EXACT [] xref: UMLS:C1846914 "Restrictive external ophthalmoplegia" xref: UMLS:C1865918 "Restrictive ophthalmoplegia" is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007937 name: Honeycomb retinal degeneration is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007939 name: Blue cone monochromacy def: "A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors." [HPO:probinson] synonym: "S-cone monochromacy" EXACT [] is_a: HP:0011517 ! Cone monochromacy [Term] id: HP:0007941 name: Limited extraocular movements synonym: "Limited extraocular movement" EXACT [] xref: UMLS:C1858427 "Limited extraocular movements" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007942 name: Internal ophthalmoplegia def: "Paralysis of the iris and ciliary apparatus." [HPO:probinson] comment: Paralysis of the internal ocular muscles, the iris and ciliary apparatus. xref: UMLS:C0339693 "Internal Ophthalmoplegia" is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007943 name: Congenital stapes ankylosis def: "A form of stapes ankylosis with congenital onset." [HPO:probinson] xref: UMLS:C1866657 "Congenital stapes ankylosis" is_a: HP:0000381 ! Stapes ankylosis property_value: HP:0040005 "A form of `stapes ankylosis` (HP:0000381) with congenital onset." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007944 name: Intermittent microsaccadic pursuits xref: UMLS:C1846372 "Intermittent microsaccadic pursuits" is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007945 name: Choroidal degeneration alt_id: HP:0007912 def: "Degeneration of the choroid." [HPO:probinson] is_a: HP:0000610 ! Abnormality of the choroid property_value: HP:0040005 "Degeneration of the `choroid` (FMA:58298)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007946 name: Unilateral narrow palpebral fissure def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only." [HPO:probinson] synonym: "Narrow palpebral fissure, unilateral" EXACT [] is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0007947 name: Pericentral retinitis pigmentosa xref: UMLS:C1849398 "RETINITIS PIGMENTOSA, PERICENTRAL" is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007948 name: Dense posterior cortical cataract def: "A type of posterior cortical cataract characterized by dense lenticular opacities." [HPO:probinson] is_a: HP:0010924 ! Posterior cortical cataract property_value: HP:0040005 "A type of `posterior cortical cataract` (HP:0010924) characterized by dense lenticular opacities." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007949 name: Progressive macular scarring is_a: HP:0200056 ! Macular scarring [Term] id: HP:0007950 name: Peripapillary chorioretinal atrophy def: "Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head)." [HPO:probinson] xref: UMLS:C1719838 "Peripapillary atrophy" is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007956 name: Bilateral choroid coloboma is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0007957 name: Corneal opacity alt_id: HP:0007844 alt_id: HP:0007883 alt_id: HP:0008502 def: "A reduction of corneal clarity." [HPO:probinson] subset: hposlim_core synonym: "Corneal clouding" EXACT [] synonym: "Corneal opacities" EXACT [] synonym: "Reduction of corneal clarity" EXACT [] xref: MeSH:D003318 "Corneal Opacity" xref: SNOMEDCT:64634000 "Corneal opacity" is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0007958 name: Optic atrophy from cranial nerve compression is_a: HP:0000648 ! Optic atrophy is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007961 name: Rarefaction of retinal pigmentation is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0007962 name: Speckled corneal dystrophy is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007963 name: Macroreticular retinal dystrophy xref: UMLS:C0854723 "Retinal dystrophy" is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007964 name: Degenerative vitreoretinopathy xref: UMLS:C1843486 "Degenerative vitreoretinopathy" is_a: HP:0007773 ! Vitreoretinal abnormalities [Term] id: HP:0007965 name: Absence of visual evoked potentials is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0007968 name: Persistent hyperplastic primary vitreous def: "A failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. This condition is known as Persistent Hyperplastic Primary Vitreous (PHPV)." [HPO:probinson] subset: hposlim_core synonym: "Persistent hyperplasia of primary vitreous" EXACT [] synonym: "Persistent hypertrophic primary vitreous" EXACT [] xref: MeSH:D054514 "Persistent Hyperplastic Primary Vitreous" is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007970 name: Congenital ptosis xref: UMLS:C0266573 "Congenital ptosis" is_a: HP:0000508 ! Ptosis [Term] id: HP:0007971 name: Lamellar cataract def: "A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens." [HPO:probinson] synonym: "Congenital lamellar cataracts" EXACT [] xref: UMLS:C0266537 "Lamellar cataract" is_a: HP:0010920 ! Zonular cataract property_value: HP:0040005 "A `congenital cataract` (HP:0000519) in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007973 name: Retinal dysplasia alt_id: HP:0008022 def: "The presence of developmental dysplasia of the retina." [HPO:probinson] comment: This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately. subset: hposlim_core synonym: "Retinal dysgenesis" EXACT [] xref: MeSH:D015792 "Retinal Dysplasia" xref: UMLS:C0035313 "Retinal Dysplasia" is_a: HP:0000479 ! Abnormality of the retina property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `retina` (FMA:58301)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007975 name: Hypometric horizontal saccades def: "Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, pmid:572501] xref: UMLS:C1856478 "Hypometric horizontal saccades" is_a: HP:0000571 ! Hypometric saccades [Term] id: HP:0007976 name: Cerulean cataract def: "Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary." [HPO:probinson, pmid:19496508, pmid:9158139] synonym: "Cataracts, congenital, cerulean" EXACT [] xref: UMLS:C0344523 "Cerulean cataract" is_a: HP:0007648 ! Punctate cataract property_value: HP:0040005 "Cerulean cataracts are a kind of `congenital cataract` (HP:0000519) having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary." xsd:string {xref="HPO:probinson", xref="pmid:19496508", xref="pmid:9158139"} [Term] id: HP:0007979 name: Gaze-evoked horizontal nystagmus alt_id: HP:0007639 def: "Horizontal nystagmus made apparent by looking to the right or to the left." [HPO:curators] synonym: "NYSTAGMUS, HORIZONTAL GAZE-EVOKED" RELATED [HPO:skoehler] synonym: "Nystagmus, horizontal, gaze-evoked" EXACT [] is_a: HP:0000640 ! Gaze-evoked nystagmus is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0007980 name: Absent retinal pigment epithelium xref: UMLS:C1852548 "Absent retinal pigment epithelium" is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007981 name: Concentric narrowing of visual fields is_a: HP:0001133 ! Constricted visual fields [Term] id: HP:0007982 name: Central tapetoretinal dystrophy xref: UMLS:C1867102 "Central tapetoretinal dystrophy" is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007984 name: Reduced amplitude of b-wave (ERG) def: "An abnormal reduction in the amplitude of the b-wave in electroretinography." [HPO:probinson] comment: Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave. synonym: "Electroretinogram: reduced b-wave amplitude" EXACT [] synonym: "Reduced rod b-wave (ERG)" EXACT [] is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0007985 name: Retinal arteriolar occlusion def: "Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina." [HPO:probinson] is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0007986 name: Increased retinal vascularity xref: UMLS:C1847882 "Increased retinal vascularity" is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007987 name: Progressive visual field defects is_a: HP:0001123 ! Visual field defect [Term] id: HP:0007988 name: Macular hypopigmentation def: "Decreased amount of pigmentation in the macula lutea." [DDD:ncarter] is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: HP:0040005 "Decreased amount of pigmentation in the `macula lutea` (FMA:58637)." xsd:string {xref="DDD:ncarter"} [Term] id: HP:0007989 name: Intraretinal exudate def: "Retinal exudate within the retinal tissue itself." [HPO:probinson] xref: UMLS:C0015388 "Exudates" is_a: HP:0001147 ! Retinal exudate [Term] id: HP:0007990 name: Hypoplastic iris stroma alt_id: HP:0007991 alt_id: HP:0008027 def: "Underdevelopment of the stroma of iris." [HPO:probinson] synonym: "Hypoplastic iris stoma" EXACT [] synonym: "Iris stromal hypoplasia" EXACT [] xref: UMLS:C1860344 "Hypoplastic iris stoma" is_a: HP:0007676 ! Hypoplasia of the iris property_value: HP:0040005 "Underdevelopment of the `stroma of iris` (FMA:58526)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0007992 name: Lattice retinal degeneration xref: UMLS:C0154856 "Lattice retinal degeneration" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007993 name: Malformed lacrimal ducts is_a: HP:0011481 ! Abnormality of the lacrimal duct [Term] id: HP:0007994 name: Peripheral visual field loss def: "Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision." [HPO:probinson] synonym: "Tunnel vision" RELATED [] xref: SNOMEDCT:420990001 "Tunnel visual field constriction" xref: UMLS:C2937228 "Tunnel visual field constriction" is_a: HP:0001123 ! Visual field defect [Term] id: HP:0008000 name: Decreased corneal reflex def: "An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids." [HPO:probinson] synonym: "Decreased blink reflex" EXACT [] synonym: "Reduced corneal reflex" EXACT [] xref: UMLS:C0151572 "Reflex, Corneal, Decreased" is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0008001 name: Foveal hyperpigmentation def: "Increased amount of pigmentation in the fovea centralis." [HPO:probinson] is_a: HP:0000493 ! Abnormality of the fovea is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: HP:0040005 "Increased amount of pigmentation in the `fovea centralis` (FMA:58658)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008002 name: Abnormality of macular pigmentation def: "Abnormality of macular or foveal pigmentation." [DDD:ncarter] subset: hposlim_core synonym: "Macular pigmentary changes" RELATED [] is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0008003 name: Jerky ocular pursuit movements alt_id: HP:0007897 synonym: "Jerky smooth pursuit" EXACT [] xref: UMLS:C1853558 "Jerky smooth pursuit" is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0008005 name: Congenital corneal dystrophy xref: UMLS:C1611195 "Congenital corneal dystrophy" is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0008007 name: Primary congenital glaucoma xref: UMLS:C1533041 "Primary congenital glaucoma" is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0008008 name: Progressive central visual loss alt_id: HP:0007693 synonym: "Progressive central vision loss" EXACT [] is_a: HP:0000529 ! Progressive visual loss is_a: HP:0007663 ! Decreased central vision [Term] id: HP:0008009 name: Three rows of eyelashes is_a: HP:0008496 ! Multiple rows of eyelashes [Term] id: HP:0008011 name: Peripheral opacification of the cornea def: "Reduced transparency of the peripheral region of the cornea." [HPO:probinson] synonym: "Peripheral corneal opacity" EXACT [] xref: UMLS:C1848442 "Peripheral corneal opacities" is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0008012 name: Congenital myopia def: "Myopia apparent at birth." [DDD:ncarter] is_a: HP:0000545 ! Myopia [Term] id: HP:0008014 name: Central fundal arteriolar microaneurysms def: "Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc." [HPO:probinson] is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0002617 ! Aneurysm [Term] id: HP:0008017 name: Depigmented lesions of the retinal pigment epithelium is_a: HP:0007894 ! Hypopigmentation of the fundus [Term] id: HP:0008019 name: Superior lens subluxation def: "Partial dislocation of the lens in a superior direction." [HPO:probinson, pmid:5087595] is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008020 name: Progressive cone degeneration alt_id: HP:0007789 synonym: "Progressive cone dystrophy" EXACT [] xref: UMLS:C0339530 "progressive cone dystrophy" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0008024 name: Congenital nuclear cataract alt_id: HP:0007672 alt_id: HP:0007781 def: "A type of congenital cataract in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear." [HPO:probinson] xref: UMLS:C0158551 "Congenital nuclear cataract" is_a: HP:0000519 ! Congenital cataract is_a: HP:0100018 ! Nuclear cataract property_value: HP:0040005 "A type of `congenital cataract` (HP:0000519) in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008026 name: Horizontal opticokinetic nystagmus xref: UMLS:C0271385 "Horizontal Nystagmus" is_a: HP:0000666 ! Horizontal nystagmus [Term] id: HP:0008028 name: Cystoid macular degeneration alt_id: HP:0007673 def: "A form of macular degeneration characterized by the presence of multiple cysts in the macula." [HPO:probinson] synonym: "Cystic macular degeneration" EXACT [] xref: UMLS:C0546382 "Cystoid macular degeneration" is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0008030 name: Retinal arteritis xref: UMLS:C0271069 "Retinal arteritis" is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0012089 ! Arteritis [Term] id: HP:0008031 name: Posterior Y-sutural cataract def: "A type of sutural cataract in which the opacity follows the posterior Y suture." [HPO:probinson] synonym: "Posterior Y-sutural cataracts" EXACT [] is_a: HP:0010695 ! Sutural cataract property_value: HP:0040005 "A type of `sutural cataract` (HP:0010695) in which the opacity follows the posterior Y suture." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008033 name: Congenital exotropia xref: UMLS:C1282374 "Congenital exotropia" is_a: HP:0000577 ! Exotropia [Term] id: HP:0008034 name: Abnormal iris pigmentation def: "Abnormal pigmentation of the iris." [HPO:probinson] subset: hposlim_core xref: UMLS:C1834387 "Abnormal iris pigmentation" is_a: HP:0000525 ! Abnormality of the iris property_value: HP:0040005 "Abnormal pigmentation of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008035 name: Retinitis pigmentosa inversa alt_id: HP:0008506 def: "A variant of retinitis pigmentosa characterized by areas of choroidal degeneration with pigment migration and bony spicule formation in the macular area. In contrast to more typical forms of RP, this anomaly destroys central vision, leaving peripheral vision intact." [pmid:9734800] synonym: "Central retinitis pigmentosa" EXACT [] xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0008036 name: Retinal pigmentary dystrophy xref: UMLS:C0311338 "Retinal pigmentary dystrophy" is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0008037 name: Absent anterior eye chamber xref: UMLS:C0271004 "Absent anterior eye chamber" is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0008038 name: Aplastic/hypoplastic lacrimal glands def: "Absence or underdevelopment of the lacrimal gland." [HPO:probinson] is_a: HP:0011482 ! Abnormality of the lacrimal gland [Term] id: HP:0008039 name: Subepithelial corneal opacities xref: UMLS:C1857307 "Subepithelial corneal opacities" is_a: HP:0007727 ! Opacification of the corneal epithelium [Term] id: HP:0008041 name: Late onset congenital glaucoma xref: UMLS:C1856441 "Late onset congenital glaucoma" is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0008043 name: Retinal arteriolar constriction alt_id: HP:0007952 alt_id: HP:0008510 def: "Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina." [HPO:probinson] comment: Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery. synonym: "Constricted retinal arterioles" EXACT [] synonym: "Narrow retinal arterioles" EXACT [] synonym: "Retinal arteriolar narrowing" EXACT [] is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008045 name: Enlarged flash visual evoked potentials synonym: "High flash visual evoked potentials" EXACT [] is_a: HP:0007928 ! Abnormal flash visual evoked potentials [Term] id: HP:0008046 name: Abnormality of the retinal vasculature def: "An arterial or venous retinal vascular anomaly." [HPO:probinson] is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000532 ! Chorioretinal abnormality is_a: HP:0008047 ! Abnormality of the vasculature of the eye created_by: peter creation_date: 2008-04-02T12:09:00Z [Term] id: HP:0008047 name: Abnormality of the vasculature of the eye is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012374 ! Abnormality of the globe created_by: peter creation_date: 2008-04-02T12:10:00Z [Term] id: HP:0008048 name: Abnormality of the line of Schwalbe def: "An abnormality of the line of Schwalbe." [HPO:probinson] comment: Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. is_a: HP:0000481 ! Abnormality of the cornea property_value: HP:0040005 "An abnormality of the `line of Schwalbe` (FMA:58422)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T12:12:00Z [Term] id: HP:0008049 name: Abnormality of the extraocular muscles def: "An abnormality of an extraocular muscle." [HPO:probinson] comment: There are six extraocular muscles that control the movements of the eye. is_a: HP:0012372 ! Abnormal eye morphology property_value: HP:0040005 "An abnormality of an `extraocular muscle` (FMA:49033)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T12:14:00Z [Term] id: HP:0008050 name: Abnormality of the palpebral fissures def: "An anomaly of the space between the medial and lateral canthi of the two open eyelids." [HPO:probinson] is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2008-04-02T01:22:00Z [Term] id: HP:0008051 name: Abnormality of the retinal pigment epithelium alt_id: HP:0007743 def: "An abnormality of the retinal pigment epithelium. Much of the pigmentary change that occurs in diseases of the retina takes place in the RPE (which is pigmented) rather than in the retina (which is transparent). The main purpose of the RPE is to insulate and support the overlying neural retina." [HPO:probinson] synonym: "Retinal pigmentary anomaly" EXACT [] is_a: HP:0000479 ! Abnormality of the retina property_value: HP:0040005 "An abnormality of the `retinal pigment epithelium` (FMA:58627). Much of the pigmentary change that occurs in diseases of the retina takes place in the RPE (which is pigmented) rather than in the retina (which is transparent). The main purpose of the RPE is to insulate and support the overlying neural retina." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T01:32:00Z [Term] id: HP:0008052 name: Abnormal retinal folds is_a: HP:0000479 ! Abnormality of the retina created_by: peter creation_date: 2008-04-02T01:37:00Z [Term] id: HP:0008053 name: Aplasia/Hypoplasia of the iris def: "Absence or underdevelopment of the iris." [HPO:probinson] is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye property_value: HP:0040005 "Absence or underdevelopment of the `iris` (FMA:58235)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T01:50:00Z [Term] id: HP:0008054 name: Abnormality of the vasculature of the conjunctiva def: "Any abnormality of the blood vessels of the conjunctiva." [HPO:curators] is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0008047 ! Abnormality of the vasculature of the eye created_by: peter creation_date: 2008-04-02T03:04:00Z [Term] id: HP:0008055 name: Aplasia/Hypoplasia affecting the uvea def: "Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid." [HPO:probinson] is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:24:00Z [Term] id: HP:0008056 name: Aplasia/Hypoplasia affecting the eye is_a: HP:0012374 ! Abnormality of the globe created_by: peter creation_date: 2008-04-02T03:25:00Z [Term] id: HP:0008057 name: Aplasia/Hypoplasia affecting the fundus is_a: HP:0001098 ! Abnormality of the fundus is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:27:00Z [Term] id: HP:0008058 name: Aplasia/Hypoplasia of the optic nerve is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:28:00Z [Term] id: HP:0008059 name: Aplasia/Hypoplasia of the macula is_a: HP:0001103 ! Abnormality of the macula is_a: HP:0008061 ! Aplasia/Hypoplasia affecting the retina created_by: peter creation_date: 2008-04-02T03:29:00Z [Term] id: HP:0008060 name: Aplasia/Hypoplasia of the fovea def: "Congenital absence or underdevelopment of the fovea centralis." [HPO:probinson] is_a: HP:0000493 ! Abnormality of the fovea is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula property_value: HP:0040005 "Congenital absence or underdevelopment of the `fovea centralis` (FMA:58658)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008061 name: Aplasia/Hypoplasia affecting the retina is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008062 name: Aplasia/Hypoplasia affecting the anterior segment of the eye def: "Absence or underdevelopment of the anterior segment of the eye." [HPO:probinson] is_a: HP:0004328 ! Abnormality of the anterior segment of the eye is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye property_value: HP:0040005 "Absence or underdevelopment of the `anterior segment` (FMA:58865) of the eye." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008063 name: Aplasia/Hypoplasia of the lens def: "Absence or underdevelopment of the lens." [HPO:probinson] is_a: HP:0000517 ! Abnormality of the lens is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye created_by: peter creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008064 name: Ichthyosis alt_id: HP:0000955 alt_id: HP:0007547 def: "An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [HPO:probinson] comment: The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder. subset: hposlim_core synonym: "Hypertrophic ichthyosis" RELATED [] synonym: "Ichthyosiform abnormality of the skin" EXACT [] synonym: "Ichthyotic skin" EXACT [] xref: MEDRA:10021198 "Ichthyosis" xref: MeSH:D007057 "Ichthyosis" xref: SNOMEDCT:13059002 "Congenital ichthyosis of skin" xref: UMLS:C0020758 "Ichthyosis" is_a: HP:0011368 ! Epidermal thickening created_by: peter creation_date: 2008-04-02T03:41:00Z [Term] id: HP:0008065 name: Aplasia/Hypoplasia of the skin is_a: HP:0011355 ! Localized skin lesion created_by: peter creation_date: 2008-04-02T03:44:00Z [Term] id: HP:0008066 name: Abnormal blistering of the skin alt_id: HP:0007467 alt_id: HP:0007496 alt_id: HP:0200038 def: "The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls." [HPO:probinson] comment: A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. synonym: "Blistering, generalized" EXACT [] synonym: "Blisters" EXACT [] synonym: "SKIN BLISTERS" RELATED [HPO:skoehler] synonym: "Skin bullae" EXACT [] is_a: HP:0011121 ! Abnormality of skin morphology created_by: peter creation_date: 2008-04-02T03:54:00Z [Term] id: HP:0008067 name: Abnormally lax or hyperextensible skin is_a: HP:0010647 ! Abnormal elasticity of skin created_by: peter creation_date: 2008-04-02T03:56:00Z [Term] id: HP:0008069 name: Neoplasm of the skin def: "A tumor (abnormal growth of tissue) of the skin." [HPO:probinson] subset: hposlim_core synonym: "Dermatological tumors" EXACT [HPO:sdoelken] synonym: "Neoplasia of the skin" RELATED [] synonym: "Skin cancer" RELATED [HPO:skoehler] synonym: "Skin tumors" EXACT [] synonym: "Tumor of the skin" EXACT [] xref: SNOMEDCT:126488004 "Neoplasm of skin" xref: UMLS:C0037286 "SKIN TUMORS" is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T04:01:00Z [Term] id: HP:0008070 name: Sparse hair alt_id: HP:0002237 alt_id: HP:0002291 alt_id: HP:0004522 alt_id: HP:0004538 def: "Reduced density of hairs." [HPO:probinson] comment: This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. synonym: "Thin hair" EXACT [] synonym: "THIN, SPARSE HAIR" RELATED [HPO:skoehler] synonym: "Thinned hair" EXACT [] xref: UMLS:C1837770 "Sparse hair" is_a: HP:0011357 ! Abnormality of hair density property_value: HP:0040005 "Reduced density of `hairs` (FMA:53667)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-02T04:11:00Z [Term] id: HP:0008071 name: Maternal hypertension def: "Increased blood pressure during a pregnancy." [HPO:sdoelken] xref: UMLS:C0565599 "Maternal hypertension" is_a: HP:0100603 ! Toxemia of pregnancy [Term] id: HP:0008072 name: Maternal virilization in pregnancy def: "Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum." [HPO:probinson] is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0008073 name: Low maternal serum estriol def: "An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age." [pmid:19038077] is_a: HP:0011436 ! Abnormal maternal serum screening [Term] id: HP:0008074 name: Metatarsal periosteal thickening xref: UMLS:C1834349 "Metatarsal periosteal thickening" is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008075 name: Progressive pes cavus def: "The development of Pes cavus that is progressive with age." [HPO:probinson] xref: UMLS:C1846017 "Progressive pes cavus" is_a: HP:0001761 ! Pes cavus property_value: HP:0040005 "The development of `Pes cavus` (HP:0001761) that is progressive with age." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008076 name: Osteoporotic tarsals def: "Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] xref: UMLS:C1836872 "Osteoporotic tarsals" is_a: HP:0009132 ! Abnormal tarsal bone mineral density property_value: HP:0040005 "Reduction in bone mineral density affecting any or all of the `tarsal bones` (FMA:71339), seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008078 name: Thin metatarsal cortices xref: UMLS:C1850162 "Thin metatarsal cortices" is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008079 name: Absent fifth metatarsal alt_id: HP:0010670 def: "A developmental abnormality characterized by the absence of the fifth metatarsal bone." [HPO:probinson] synonym: "Absent 5th metatarsals" EXACT [] synonym: "Aplasia of the fifth metatarsal bone" EXACT [] xref: UMLS:C1867932 "Absent 5th metatarsals" is_a: HP:0010744 ! Absent metatarsal bone property_value: HP:0040005 "A developmental abnormality characterized by the absence of the `fifth metatarsal bone` (FMA:24506)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008080 name: Hallux varus def: "Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially." [HPO:curators] synonym: "Medially deviated halluces" EXACT [] xref: MeSH:D050488 "Hallux Varus" xref: UMLS:C0866710 "hallux varus" is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0008081 name: Valgus foot deformity xref: UMLS:C1578482 "Valgus foot deformity" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008082 name: Medial deviation of the foot is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008083 name: 2nd-5th toe middle phalangeal hypoplasia xref: UMLS:C1861376 "2nd-5th toe middle phalangeal hypoplasia" is_a: HP:0003795 ! Short middle phalanx of toe [Term] id: HP:0008087 name: Nonossified fifth metatarsal def: "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [HPO:probinson] is_a: HP:0008371 ! Abnormal metatarsal ossification property_value: HP:0040005 "The presence of a `fifth metatarsal bone` (FMA:24506) that has not undergone ossification at an age when ossification is usually visible." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008089 name: Abnormality of the fifth metatarsal bone def: "An anomaly of the fifth metatarsal bone." [HPO:probinson] xref: UMLS:C1839518 "Anomalous fifth metatarsal" is_a: HP:0001832 ! Abnormality of the metatarsal bones property_value: HP:0040005 "An anomaly of the fifth metatarsal bone` (FMA:24506)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008090 name: Ankylosis of feet small joints is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008093 name: Short 4th toe def: "Underdevelopment (hypoplasia) of the fourth toe." [HPO:probinson] synonym: "Short fourth toe" EXACT [] is_a: HP:0001831 ! Short toe property_value: HP:0040005 "Underdevelopment (hypoplasia) of the `fourth toe` (FMA:25052)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008094 name: Widely spaced toes alt_id: HP:0008077 def: "An overall widening of the spaces between the digits." [HPO:probinson, pmid:19125433] comment: This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap). xref: UMLS:C1969238 "Widely spaced toes" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0008095 name: Osteolysis of talus def: "Osteolysis affecting the talus." [HPO:sdoelken] synonym: "Osteolysis of tali" EXACT [] is_a: HP:0008365 ! Abnormality of the talus is_a: HP:0009134 ! Osteolysis involving bones of the feet property_value: HP:0040005 "`Osteolysis` (HP:0002797) affecting the `talus` (FMA:9708)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0008096 name: Medially deviated second toe def: "Medial deviation of the second toe." [HPO:probinson] is_a: HP:0010326 ! Deviation of the 2nd toe property_value: HP:0040005 "Medial deviation of the `second toe` (FMA:25048)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008097 name: Partial fusion of tarsals is_a: HP:0008368 ! Tarsal synostosis [Term] id: HP:0008102 name: Expanded metatarsals with widened medullary cavities is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008103 name: Delayed tarsal ossification alt_id: HP:0008145 def: "Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Tarsal delayed ossification" EXACT [] xref: UMLS:C1846853 "Delayed tarsal ossification" is_a: HP:0008369 ! Abnormal tarsal ossification property_value: HP:0040005 "Delayed maturation and calcification of any of the `tarsal bones` (FMA:71339), seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008107 name: Plantar crease between first and second toes def: "The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe." [HPO:probinson] is_a: HP:0001869 ! Deep plantar creases property_value: HP:0040005 "The presence of unusually deep creases (ridges/wrinkles) on the `skin of sole of foot` (FMA:37849) located between the first and second toe." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008108 name: Advanced tarsal ossification alt_id: HP:0008137 def: "Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Precociously ossified tarsal bones" EXACT [] xref: UMLS:C1859157 "Advanced tarsal ossification" is_a: HP:0008369 ! Abnormal tarsal ossification property_value: HP:0040005 "Precocious (accelerated) maturation and calcification of any of the `tarsal bones` (FMA:71339), seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008110 name: Equinovarus deformity xref: UMLS:C1857118 "Equinovarus deformity" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008111 name: Broad distal hallux xref: UMLS:C1863403 "Broad distal hallux" is_a: HP:0010055 ! Broad hallux [Term] id: HP:0008112 name: Plantar flexion contractures xref: UMLS:C1861239 "Plantar flexion contractures" is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0008113 name: Multiple plantar creases xref: UMLS:C1861873 "Multiple plantar creases" is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0008114 name: Metatarsal diaphyseal endosteal sclerosis def: "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones." [HPO:curators] xref: UMLS:C1840420 "Metatarsal diaphyseal endosteal sclerosis" is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0100925 ! Sclerosis of foot bone [Term] id: HP:0008115 name: Clinodactyly of the 3rd toe def: "Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "3rd toe clinodactyly" EXACT [] is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010332 ! Deviation of the 3rd toe property_value: HP:0040005 "Bending or curvature of a `third toe` (FMA:25051) in the tibial direction (i.e., towards the big toe)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008116 name: Flexion limitation of toes def: "Limitation of the ability to bend the toes." [HPO:probinson] is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0008117 name: Shortening of the talar neck is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0008119 name: Deformed tarsal bones is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008122 name: Calcaneonavicular fusion def: "Synostosis of the calcaneus with the navicular bone." [HPO:probinson] is_a: HP:0008368 ! Tarsal synostosis property_value: HP:0040005 "Synostosis of the `calcaneus` (FMA:24496) with the `navicular bone` (FMA:24499)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008124 name: Talipes calcaneovarus def: "A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus." [HPO:probinson] xref: UMLS:C0265646 "Talipes calcaneovarus" is_a: HP:0001883 ! Talipes [Term] id: HP:0008125 name: Second metatarsal posteriorly placed is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008127 name: Bipartite calcaneus alt_id: HP:0008104 alt_id: HP:0008130 alt_id: HP:0008146 def: "A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [HPO:probinson] synonym: "Delayed coalescence of bipartite calcanei" EXACT [] synonym: "Delayed coalescence of calcaneal ossification centers" EXACT [] synonym: "Delayed fusion of bipartite calcanei" EXACT [] synonym: "Double calcaneal ossification center" EXACT [] synonym: "Extra calcaneal ossification center" EXACT [] xref: UMLS:C1839519 "Extra calcaneal ossification center" is_a: HP:0008364 ! Abnormality of the calcaneus property_value: HP:0040005 "A two-part `calcaneus`(FMA:24496), a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008131 name: Tarsal stippling def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones." [HPO:probinson] synonym: "Punctate calcifications of tarsals" EXACT [] synonym: "Punctate tarsal calcification" EXACT [] is_a: HP:0008369 ! Abnormal tarsal ossification is_a: HP:0010766 ! Ectopic calcification is_a: HP:0100925 ! Sclerosis of foot bone property_value: HP:0040005 "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more `tarsal bones` (FMA:71339)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008132 name: Medial rotation of the medial malleolus is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0008133 name: Distal tapering of metatarsals is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008134 name: Irregular tarsal ossification alt_id: HP:0008140 def: "Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Irregular tarsal centers" EXACT [] is_a: HP:0008369 ! Abnormal tarsal ossification [Term] id: HP:0008138 name: Equinus calcaneus def: "Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees." [HPO:probinson] synonym: "Equinus deformity of the calcaneus" EXACT [] synonym: "Hindfoot equinus" EXACT [] is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008141 name: Dislocation of toes is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0008142 name: Delayed calcaneal ossification def: "Delayed maturation and calcification of the calcaneus." [HPO:probinson] is_a: HP:0008103 ! Delayed tarsal ossification is_a: HP:0008364 ! Abnormality of the calcaneus property_value: HP:0040005 "Delayed maturation and calcification of the `calcaneus`(FMA:24496)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008144 name: Flattening of the talar dome is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008148 name: Impaired epinephrine-induced platelet aggregation def: "Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine." [DDD:wouwehand] is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0008150 name: Elevated serum transaminases during infections def: "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [HPO:curators] is_a: HP:0002910 ! Elevated hepatic transaminases [Term] id: HP:0008151 name: Prolonged prothrombin time def: "Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation." [HPO:probinson] xref: UMLS:C0151872 "PT prolonged" is_a: HP:0012200 ! Abnormality of prothrombin [Term] id: HP:0008153 name: Periodic hypokalemic paresis def: "Episodes of muscle weakness associated with reduced levels of potassium in the blood." [HPO:probinson] synonym: "Hypokalemic periodic paresis" EXACT [] is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0008155 name: Mucopolysacchariduria alt_id: HP:0003567 def: "Excessive amounts of mucopolysaccharide in the urine." [HPO:probinson] comment: This finding is suggestive of the diagnosis of a mucopolysaccharidosis. is_a: HP:0003541 ! Urinary glycosaminoglycan excretion is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism property_value: HP:0040005 "Excessive amounts of `mucopolysaccharide` (CHEBI:37395) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008158 name: Hyperapobetalipoproteinemia def: "Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein." [HPO:probinson, pmid:6579550] is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0008160 name: 3-hydroxydicarboxylic aciduria xref: UMLS:C0278026 "Aciduria" is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008161 name: Absent leukocyte alkaline phosphatase def: "A decrease in alkaline phosphatase activity measured within leukocytes below detectable levels ." [HPO:probinson] is_a: HP:0004852 ! Reduced leukocyte alkaline phosphatase [Term] id: HP:0008162 name: Asymptomatic hyperammonemia def: "An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy." [HPO:probinson] synonym: "Hyperammonemia, asymptomatic" EXACT [] is_a: HP:0001987 ! Hyperammonemia property_value: HP:0040005 "An increased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670) not associated with symptoms such as encephalopathy." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008163 name: Decreased circulating cortisol level alt_id: HP:0003291 def: "Abnormally reduced concentration of cortisol in the blood." [HPO:probinson] synonym: "Low to undetectable plasma cortisol" EXACT [] synonym: "Plasma cortisol low" EXACT [] is_a: HP:0011731 ! Abnormality of circulating cortisol level property_value: HP:0040005 "Abnormally reduced concentration of `cortisol` (CHEBI:17650) in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008165 name: Reduced circulating T-helper cells def: "Reduced numbers of helper T cells." [HPO:probinson] is_a: HP:0005403 ! T lymphocytopenia property_value: HP:0040005 "Reduced numbers of `helper T cells` (CL:0000912)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008166 name: Decreased beta-galactosidase activity alt_id: HP:0003644 alt_id: HP:0008300 def: "Abnormally decreased rate of beta-galactosidase activity." [HPO:gcarletti] synonym: "Beta-galactosidase deficiency in fibroblasts and white blood cells" EXACT [] synonym: "Beta-galactosidase-1 deficiency" EXACT [] synonym: "Decreased beta-galactosidase activity (leukocyte, fibroblast, plasma)" EXACT [] is_a: HP:0004342 ! Abnormality of galactoside metabolism property_value: HP:0040005 "Abnormally `decreased rate` (PATO:0000911) of `beta-galactosidase activity` (GO:0004565)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0008167 name: Very long chain fatty acid accumulation is_a: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism [Term] id: HP:0008169 name: Reduced factor VII activity def: "Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X." [HPO:probinson] synonym: "Factor VII deficiency" RELATED [] xref: UMLS:C0015503 "Factor VII Deficiency" is_a: HP:0010988 ! Abnormality of the extrinsic pathway property_value: HP:0040005 "Reduced activity of `coagulation factor VII` (PR:000007301 ). Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008176 name: Neonatal unconjugated hyperbilirubinemia xref: UMLS:C0559506 "Neonatal unconjugated hyperbilirubinaemia" is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008178 name: Abnormal cartilage matrix is_a: HP:0002763 ! Abnormal cartilage morphology [Term] id: HP:0008179 name: Decreased electrooculogram (EOG) def: "An abnormal reduction in amplitude of the signal opf electro-oculography (EOG), which is a technique for measuring the resting potential of the retina." [HPO:probinson] is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0008180 name: Mildly elevated creatine phosphokinase alt_id: HP:0003211 synonym: "Mildly increased creatine kinase" EXACT [] synonym: "Mildly increased serum creatine kinase" EXACT [] synonym: "Moderately increased serum creatine kinase" EXACT [] xref: UMLS:C1843875 "Mildly increased serum creatine kinase" is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0008181 name: Abetalipoproteinemia def: "An absence of low-density lipoprotein cholesterol in the blood." [HPO:probinson] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. xref: MeSH:D000012 "Abetalipoproteinemia" xref: UMLS:C0000744 "Abetalipoproteinaemia" is_a: HP:0003563 ! Hypobetalipoproteinemia property_value: HP:0040005 "An absence of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008182 name: Adrenocortical hypoplasia is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008185 name: Precocious puberty in males def: "The onset of puberty before the age of 9 years in boys." [HPO:curators] synonym: "Male precocious puberty" EXACT [] is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008186 name: Adrenocortical cytomegaly def: "The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex." [HPO:probinson] comment: This feature is common in Beckwith Wiedemann syndrome. xref: UMLS:C1851720 "Adrenocortical cytomegaly" is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0008187 name: Absence of secondary sex characteristics alt_id: HP:0008674 def: "No secondary sexual characteristics are present at puberty." [HPO:probinson] synonym: "No secondary sexual characteristics at puberty" EXACT [] is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008188 name: Thyroid dysgenesis synonym: "Thyroid dysplasia" EXACT [] xref: MeSH:D050033 "Thyroid Dysgenesis" is_a: HP:0011772 ! Abnormality of thyroid morphology [Term] id: HP:0008189 name: Insulin insensitivity def: "Decreased sensitivity toward insulin." [HPO:probinson] xref: UMLS:C1864570 "Insulin insensitivity" is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: HP:0040005 "`Decreased sensitivity toward` (PATO:0001550) `insulin` (PRO:000009054)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008191 name: Thyroid agenesis def: "The congenital absence of the thyroid gland." [HPO:probinson, pmid:2918525] synonym: "Athyroidal hypothyroidism" RELATED [] xref: UMLS:C0020676 "Hypothyroidism" is_a: HP:0008188 ! Thyroid dysgenesis property_value: HP:0040005 "The congenital absence of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson", xref="pmid:2918525"} [Term] id: HP:0008193 name: Primary gonadal insufficiency xref: UMLS:C1859014 "Primary gonadal insufficiency" is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008194 name: Multiple pancreatic beta-cell adenomas def: "The presence of multiple pancreatic islet cell adenomas." [HPO:probinsojn] is_a: HP:0008261 ! Pancreatic islet cell adenoma property_value: HP:0040005 "The presence of `multiple` (PATO:0002118) `pancreatic islet cell adenomas` (HP:0008261)." xsd:string {xref="HPO:probinsojn"} [Term] id: HP:0008197 name: Absence of pubertal development is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008198 name: Congenital hypoparathyroidism alt_id: HP:0008199 alt_id: HP:0008201 def: "Deficiency of parathyroid hormone with congenital onset." [DDD:spark, HPO:probinson] synonym: "Neonatal hypoparathyroidism" EXACT [] xref: UMLS:C0270227 "Neonatal hypoparathyroidism" xref: UMLS:C1455734 "Congenital hypoparathyroidism" is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008200 name: Primary hyperparathyroidism alt_id: HP:0008254 def: "A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia." [HPO:probinson] xref: MeSH:D049950 "Hyperparathyroidism, Primary" xref: UMLS:C0221002 "Hyperparathyroidism, Primary" is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0008202 name: Prolactin deficiency def: "A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production." [DDD:spark, HPO:probinson] xref: UMLS:C0271586 "Isolated prolactin deficiency" is_a: HP:0040086 ! Abnormal prolactin level [Term] id: HP:0008204 name: Precocious puberty with Sertoli cell tumor is_a: HP:0000826 ! Precocious puberty is_a: HP:0100619 ! Sertoli cell neoplasm [Term] id: HP:0008205 name: Insulin-dependent but ketosis-resistant diabetes def: "Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin." [HPO:probinson] is_a: HP:0005978 ! Type II diabetes mellitus [Term] id: HP:0008207 name: Primary adrenal insufficiency alt_id: HP:0000862 alt_id: HP:0008219 alt_id: HP:0008252 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [HPO:probinson] comment: Deficiency of both glucocorticoids and mineralocorticoids. synonym: "Addison disease" EXACT [] synonym: "Addison's disease" EXACT [] synonym: "Adrenocortical insufficiency" EXACT [] synonym: "Primary adrenocortical failure" EXACT [] xref: MeSH:D000224 "Addison Disease" xref: UMLS:C0001403 "Chronic Adrenal Insufficiency" xref: UMLS:C0162309 "Addison disease" xref: UMLS:C1846222 "Primary adrenocortical failure" is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008208 name: Parathyroid hyperplasia def: "Hyperplasia of the parathyroid gland." [HPO:probinson] comment: An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands. xref: UMLS:C0271844 "Parathyroid hyperplasia" is_a: HP:0011766 ! Abnormality of the parathyroid morphology property_value: HP:0040005 "`Hyperplasia` (MPATH:134) of the `parathyroid gland` (FMA:13890)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008209 name: Premature ovarian failure def: "Premature ovarian failure is characterized by amenorrhea, hypoestrogenism, and elevated serum gonadotropin levels in women younger than 40 years." [HPO:probinson] xref: UMLS:C0085215 "Ovarian Failure, Premature" is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0008211 name: Parathyroid agenesis def: "Aplasia of the parathyroid gland." [HPO:probinson] synonym: "Parathyroid absence" EXACT [] synonym: "Parathyroid aplasia" EXACT [] xref: UMLS:C1861130 "Parathyroid absence" is_a: HP:0011768 ! Parathyroid dysgenesis property_value: HP:0040005 "`Aplasia` (MPATH:58) of the `parathyroid gland` (FMA:13890)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008213 name: Gonadotropin deficiency alt_id: HP:0008192 def: "A reduced ability to secrete gonadotropins, which are re protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH)." [DDD:spark] synonym: "Pituitary gonadotropin deficiency" EXACT [] is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0008214 name: Decreased serum estradiol xref: UMLS:C0241011 "Decreased serum estradiol" is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008216 name: Adrenal gland dysgenesis def: "Abnormal development of the adrenal gland." [DDD:spark] synonym: "Adrenal gland dysplasia" EXACT [] synonym: "Dysplastic adrenal glands" EXACT [] xref: UMLS:C1856017 "Dysplastic adrenal glands" is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0008220 name: Hypocortisolemia alt_id: HP:0000874 alt_id: HP:0004317 def: "A reduced concentration of cortisol in the blood." [HPO:probinson] synonym: "Decreased cortisol production" EXACT [] synonym: "Glucocorticoid insufficiency" EXACT [] synonym: "Hypocortisolism" RELATED [] xref: UMLS:C1833054 "Hypocortisolemia" xref: UMLS:C1846225 "Glucocorticoid insufficiency" is_a: HP:0008207 ! Primary adrenal insufficiency property_value: HP:0040005 "A reduced concentration of `cortisol` (CHEBI:17650) in the blood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008221 name: Adrenal hyperplasia def: "Enlargement of the adrenal gland." [DDD:spark] synonym: "Enlarged adrenal glands" EXACT [] xref: UMLS:C0342499 "Enlarged adrenal glands" is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0008222 name: Female infertility xref: MeSH:D007247 "Infertility, Female" xref: UMLS:C0021361 "Female infertility" is_a: HP:0000789 ! Infertility is_a: HP:0000868 ! Decreased fertility in females [Term] id: HP:0008223 name: Compensated hypothyroidism xref: UMLS:C0342162 "Compensated hypothyroidism" is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008225 name: Thyroid follicular hyperplasia xref: UMLS:C1969546 "Thyroid follicular hyperplasia" is_a: HP:0008249 ! Thyroid hyperplasia [Term] id: HP:0008226 name: Androgen insufficiency def: "Insufficient amount of androgenic activity." [HPO:probinson] synonym: "Hypoandrogenism" EXACT [] is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008227 name: Pituitary resistance to thyroid hormone def: "A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal." [HPO:curators] is_a: HP:0011747 ! Abnormality of the anterior pituitary [Term] id: HP:0008229 name: Thyroid lymphangiectasia alt_id: HP:0008235 def: "The presence of lymphangiectasis of the thyroid gland." [HPO:probinson] comment: A stretching and widening of the lymphatic vessels of the thyroid gland. synonym: "Thyroid lymphangiectasis" EXACT [] xref: UMLS:C1856129 "Thyroid lymphangiectasia" is_a: HP:0011772 ! Abnormality of thyroid morphology is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: HP:0040005 "The presence of `lymphangiectasis` (MPATH:98) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008230 name: Decreased testosterone in males is_a: HP:0030087 ! Abnormal testosterone level is_a: HP:0045014 ! Hypolipidemia [Term] id: HP:0008231 name: Macronodular adrenal hyperplasia xref: UMLS:C0342495 "Macronodular adrenal hyperplasia" is_a: HP:0008221 ! Adrenal hyperplasia [Term] id: HP:0008232 name: Elevated follicle stimulating hormone alt_id: HP:0008324 def: "An elevated concentration of follicle-stimulating hormone in the blood." [HPO:probinson] synonym: "Elevated follicle-stimulating hormone" EXACT [] synonym: "Elevated plasma follicle stimulating hormone" EXACT [] is_a: HP:0000837 ! Gonadotropin excess [Term] id: HP:0008233 name: Decreased serum progesterone xref: UMLS:C1858995 "Decreased serum progesterone" is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008236 name: Isosexual precocious puberty xref: UMLS:C0271528 "Isosexual precocious puberty" is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008237 name: Hypothalamic hypothyroidism def: "A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity." [HPO:probinson, pmid:18731015] comment: The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism.\nTRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease. synonym: "Tertiary hypothyroidism" EXACT [] xref: UMLS:C0220998 "Hypothalamic hypothyroidism" is_a: HP:0011787 ! Central hypothyroidism is_a: HP:0012285 ! Abnormal hypothalamus physiology property_value: HP:0040005 "A type of `hypothyroidism` (HP:0000821) that results from a defect in `thyrotropin-releasing hormone activity` (GO:0008437)." xsd:string {xref="HPO:probinson", xref="pmid:18731015"} [Term] id: HP:0008239 name: Adrenal medullary hypoplasia def: "Developmental hypoplasia of the adrenal medulla." [HPO:probinson] is_a: HP:0000835 ! Adrenal hypoplasia property_value: HP:0040005 "Developmental hypoplasia of the `adrenal medulla` (FMA:15633)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008240 name: Secondary growth hormone deficiency is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0008242 name: Pseudohypoaldosteronism alt_id: HP:0008228 def: "A state of renal tubular unresponsiveness or resistance to the action of aldosterone." [HPO:probinson] comment: Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism. xref: MeSH:D011546 "Pseudohypoaldosteronism" xref: UMLS:C0033805 "Pseudohypoaldosteronism" is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0008244 name: Congenital adrenal hypoplasia alt_id: HP:0008246 def: "A type of adrenal hypoplasia with congenital onset." [HPO:probinson] synonym: "Congenital adrenal gland hypoplasia" EXACT [] is_a: HP:0000835 ! Adrenal hypoplasia property_value: HP:0040005 "A type of `adrenal hypoplasia` (HP:0000835) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008245 name: Pituitary hypothyroidism alt_id: HP:0008248 def: "A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion." [HPO:probinson] synonym: "Secondary hypothyroidism" EXACT [] synonym: "Thyroid stimulating hormone deficiency" EXACT [] synonym: "Thyrotropin deficiency" EXACT [] synonym: "TSH deficient hypothyroidism" EXACT [] is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0011787 ! Central hypothyroidism property_value: HP:0040005 "A type of `hypothyroidism` (HP:0000821) that results from a defect in `thyroid-stimulating hormone secretion` (GO:0070460)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008247 name: Euthyroid hyperthyroxinemia alt_id: HP:0008212 def: "An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease." [eMedicine:118562, HPO:probinson] comment: Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone. synonym: "Asymptomatic hyperthyroxinemia" EXACT [] is_a: HP:0002926 ! Abnormality of thyroid physiology property_value: HP:0040005 "An `abnormality of thyroid physiology (`HP:0002926) characterized by increased levels of `thyroxine` (CHEBI:30660) without evidence of clinical thyroid disease." xsd:string {xref="HPO:probinson", xref="eMedicine:118562"} [Term] id: HP:0008249 name: Thyroid hyperplasia def: "Hyperplasia of the thyroid gland." [HPO:probinson] xref: UMLS:C1112776 "Thyroid hyperplasia" is_a: HP:0011772 ! Abnormality of thyroid morphology property_value: HP:0040005 "`Hyperplasia` (MPATH:134) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008250 name: Infantile hypercalcemia xref: UMLS:C0475732 "Infantile hypercalcaemia" is_a: HP:0003072 ! Hypercalcemia [Term] id: HP:0008251 name: Congenital goiter def: "An enlargement of the thyroid gland with congenital onset." [HPO:probinson] xref: UMLS:C0349476 "Congenital goiter" is_a: HP:0000853 ! Goiter property_value: HP:0040005 "An enlargement of the `thyroid gland` (FMA:9603) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008255 name: Transient neonatal diabetes mellitus is_a: HP:0000857 ! Neonatal insulin-dependent diabetes mellitus [Term] id: HP:0008256 name: Adrenocortical adenoma alt_id: HP:0008196 def: "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:probinson, pmid:17287480] synonym: "Adrenocortical adenomas" EXACT [] xref: MeSH:D018246 "Adrenocortical Adenoma" xref: UMLS:C0206667 "Adenomas, Adrenocortical" is_a: HP:0100641 ! Neoplasm of the adrenal cortex [Term] id: HP:0008258 name: Congenital adrenal hyperplasia def: "A type of adrenal hyperplasia with congenital onset." [HPO:probinson] xref: UMLS:C0001627 "Congenital adrenal hyperplasia" is_a: HP:0008221 ! Adrenal hyperplasia property_value: HP:0040005 "A type of `adrenal hyperplasia` (HP:0008221) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008259 name: Adrenocorticotropin (ACTH) receptor (ACTHR) defect def: "Adrenal insufficiency secondary to a defect in the ACTH receptor." [DDD:spark] synonym: "Adrenocorticotropic hormone-resistant adrenal insufficiency" EXACT [] is_a: HP:0011734 ! Central adrenal insufficiency [Term] id: HP:0008261 name: Pancreatic islet cell adenoma def: "The presence of an adenoma of the pancreas with origin in a pancreatic B cell." [HPO:probinson] xref: UMLS:C1851697 "Pancreatic islet cell adenoma" is_a: HP:0002894 ! Neoplasm of the pancreas is_a: HP:0006476 ! Abnormality of the pancreatic islet cells is_a: HP:0100568 ! Neoplasm of the endocrine system property_value: HP:0040005 "The presence of an `adenoma` (MPATH:270) of the `pancreas` (FMA:7198) with origin in a `pancreatic B cell` (CL:0000169)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008263 name: Thyroid defect in oxidation and organification of iodide is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008264 name: Neutrophil inclusion bodies alt_id: HP:0001932 def: "The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies." [HPO:probinson] synonym: "Dohle-like leukocyte inclusion bodies" EXACT [] is_a: HP:0011992 ! Abnormality of neutrophil morphology [Term] id: HP:0008265 name: Mitochondrial lysine transport defect is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008269 name: Increased red cell hemolysis by shear stress is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0008271 name: Abnormal cartilage collagen def: "Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix." [HPO:probinson, pmid:11879535, pmid:7757081, pmid:9468540] synonym: "Abnormal hyaline collagen" RELATED [] synonym: "Abnormal type II collagen" RELATED [] is_a: HP:0002763 ! Abnormal cartilage morphology [Term] id: HP:0008272 name: Renal tubular lysine transport defect is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008273 name: Transient aminoaciduria is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008275 name: Abnormal cone-mediated electroretinogram is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0008277 name: Abnormality of zinc homeostasis def: "An abnormality of zinc ion homeostasis." [HPO:probinson] synonym: "Abnormal zinc metabolism" RELATED [] is_a: HP:0011030 ! Abnormality of transition element cation homeostasis property_value: HP:0040005 "An abnormality of `zinc ion homeostasis` (GO:0055069)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008278 name: Cerebellar cortical atrophy def: "Atrophy (wasting) of the cerebellar cortex." [HPO:probinson] comment: Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells. is_a: HP:0001272 ! Cerebellar atrophy property_value: HP:0040005 "Atrophy (wasting) of the `cerebellar cortex` (FMA:72248)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008279 name: Transient hyperlipidemia xref: UMLS:C1850722 "Transient hyperlipidemia" is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008281 name: Acute hyperammonemia def: "An increased concentration of ammonia in the blood with sudden onset." [HPO:probinson] synonym: "Hyperammonemia, acute" EXACT [] is_a: HP:0001987 ! Hyperammonemia property_value: HP:0040005 "An increased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670) with sudden onset." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008282 name: Unconjugated hyperbilirubinemia alt_id: HP:0008289 def: "An increased amount of unconjugated (indirect) bilurubin in the blood." [HPO:probinson] xref: UMLS:C0268306 "Unconjugated hyperbilirubinaemia" is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008283 name: Fasting hyperinsulinemia def: "An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake." [HPO:probinson] is_a: HP:0000842 ! Hyperinsulinemia property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) in the `blood` (FMA:9670) in the fasting state, i.e., not as the response to food intake." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008285 name: Transient hypophosphatemia is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008288 name: Nonketotic hyperglycinemia xref: MeSH:D020158 "Hyperglycinemia, Nonketotic" xref: UMLS:C0751748 "Non-ketotic hyperglycinaemia" is_a: HP:0002154 ! Hyperglycinemia [Term] id: HP:0008290 name: Partial complement factor H deficiency is_a: HP:0005369 ! Decreased serum complement factor H [Term] id: HP:0008291 name: Pituitary corticotropic cell adenoma def: "A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH)." [DDD:spark, HPO:probinson] synonym: "ACTH-producing pituitary adenoma" EXACT [] synonym: "Corticotropin-secreting pituitary adenoma" EXACT [] xref: MeSH:D049913 "ACTH-Secreting Pituitary Adenoma" is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0008293 name: Long-chain dicarboxylic aciduria xref: UMLS:C1837273 "Long-chain dicarboxylic aciduria" is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008297 name: Transient hyperphenylalaninemia def: "A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine)." [HPO:probinson] xref: UMLS:C0268464 "Transient hyperphenylalaninaemia" is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0008301 name: Dermatan sulfate excretion in urine def: "An increased concentration of dermatan sulfate in the urine." [HPO:gcarletti] comment: Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs. is_a: HP:0008155 ! Mucopolysacchariduria property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `dermatan sulfate` (CHEBI:18376) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0008303 name: Olivary degeneration def: "Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata." [HPO:probinson] is_a: HP:0011441 ! Abnormality of the medulla oblongata [Term] id: HP:0008305 name: Exercise-induced myoglobinuria alt_id: HP:0008319 def: "Presence of myoglobin in the urine following exercise." [HPO:probinson] synonym: "Exercise-induced myoglobinuria in adults" RELATED [] xref: UMLS:C1845155 "Myoglobinuria, exercise-induced" is_a: HP:0002913 ! Myoglobinuria property_value: HP:0040005 "Presence of `myoglobin` (CHEBI:7044) in the urine following exercise." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008306 name: Abnormal iron deposition in mitochondria is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008309 name: Medium chain dicarboxylic aciduria xref: UMLS:C1860081 "Medium chain dicarboxylic aciduria" is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008311 name: Spinal cord posterior columns myelin loss is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0008314 name: Decreased activity of mitochondrial complex II def: "A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex II deficiency" RELATED [] is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: HP:0040005 "A reduction in the activity of the `mitochondrial respiratory chain complex II` (GO:0005749), which is part of the electron transport chain in mitochondria." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008315 name: Decreased plasma free carnitine def: "A decreased concentration of free (unbound) carnitine in the blood." [HPO:probinson] is_a: HP:0003234 ! Decreased plasma carnitine property_value: HP:0040005 "A decreased concentration of free (unbound) `carnitine` (CHEBI:17126) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008316 name: Abnormal mitochondria in muscle tissue def: "An abnormality of the mitochondria in muscle tissue." [HPO:probinson] comment: This finding is typically demonstrated by muscle biopsy. synonym: "Abnormal mitochondria in muscle" EXACT [] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008318 name: Elevated leukocyte alkaline phosphatase def: "An increased alkaline phosphatase activity measured within leukocytes." [HPO:probinson] is_a: HP:0003155 ! Elevated alkaline phosphatase [Term] id: HP:0008320 name: Impaired collagen-induced platelet aggregation def: "Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics." [DDD:kfreson] is_a: HP:0003540 ! Impaired platelet aggregation [Term] id: HP:0008321 name: Reduced factor X activity def: "Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)." [HPO:probinson] synonym: "Factor X deficiency" RELATED [] xref: UMLS:C0015519 "Factor X Deficiency" is_a: HP:0010990 ! Abnormality of the common coagulation pathway property_value: HP:0040005 "Reduced activity of `coagulation factor X` (PR:000007294). The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008322 name: Abnormal mitochondrial morphology def: "Any structural anomaly of the mitochondria." [HPO:probinson] comment: This feature may be assessed by means of electron microscopy. synonym: "Abnormal mitochondrion morphology" EXACT [] is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0008323 name: Abnormal rod and cone electroretinograms def: "An abnormality of the combined rod-and-code response on electroretinogram." [HPO:probinson] comment: The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response. is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0008326 name: Vitamin B6 deficiency xref: MeSH:D026681 "Vitamin B 6 deficiency" is_a: HP:0004340 ! Abnormality of vitamin B metabolism [Term] id: HP:0008327 name: Microscopic nephrocalcinosis def: "The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma." [HPO:probinson] comment: The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis). xref: UMLS:C0403474 "Microscopic nephrocalcinosis" is_a: HP:0000121 ! Nephrocalcinosis [Term] id: HP:0008330 name: Reduced von Willebrand factor activity def: "Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [HPO:probinson, pmid:19694940] comment: Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA). is_a: HP:0012146 ! Abnormality of von Willebrand factor property_value: HP:0040005 "Decreased activity of `von Willebrand factor` (PR:000017364). Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." xsd:string {xref="HPO:probinson", xref="pmid:19694940"} [Term] id: HP:0008331 name: Elevated creatine kinase after exercise is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0008335 name: Renal aminoaciduria def: "An increased concentration of an amino acid in the urine, due to a decreased kidney functionality ." [HPO:gcarletti, HPO:probinson] comment: Renal aminoaciduria is characterized by the abnormally elevated levels of amino acids in the urine, and is usually related to genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. This term does not refer directly to the group of corresponding disease entities but rather to the finding of elevated levels of amino acids in the urine which is inferred to be related to a renal defect rather than to a primary defect of aminoacid metabolism on the basis of other findings. xref: MeSH:D000608 "Renal Aminoacidurias" xref: UMLS:C0002534 "Aminoaciduria, Renal" is_a: HP:0003355 ! Aminoaciduria property_value: HP:0040005 "An increased concentration of an `amino acid` (CHEBI:33709 ) in the urine, due to a decreased kidney functionality ." xsd:string {xref="HPO:gcarletti", xref="HPO:probinson"} [Term] id: HP:0008336 name: Complex organic aciduria is_a: HP:0001992 ! Organic aciduria is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008338 name: Partial functional complement factor D deficiency is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0008339 name: Diaminoaciduria is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008341 name: Distal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia." [HPO:probinson] synonym: "Renal tubular acidosis, type I" EXACT [] is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0008344 name: Elevated plasma branched chain amino acids def: "An increased concentration of a branched chain amino acid in the blood." [HPO:gcarletti] is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism property_value: HP:0040005 "An increased concentration of a `branched chain amino acid` (CHEBI:22918) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0008345 name: Hypoplasia of the iris dilator muscle def: "Underdevelopment of the dilatator pupillae." [HPO:probinson] is_a: HP:0007676 ! Hypoplasia of the iris property_value: HP:0040005 "Underdevelopment of the `dilatator pupillae` (FMA:49158)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008346 name: Increased red cell sickling tendency is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0008347 name: Decreased activity of mitochondrial complex IV def: "A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex IV deficiency" RELATED [] is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: HP:0040005 "A reduction in the activity of the `mitochondrial respiratory chain complex IV` (GO:0005751), which is part of the electron transport chain in mitochondria." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008348 name: Immunoglobulin IgG2 deficiency alt_id: HP:0008310 def: "A reduction in immunoglobulin levels of the IgG2 subclass." [HPO:probinson] synonym: "Reduced IgG2 levels" EXACT [] is_a: HP:0004315 ! IgG deficiency [Term] id: HP:0008352 name: Impaired platelet adhesion def: "An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation." [HPO:probinson] is_a: HP:0011869 ! Abnormal platelet function [Term] id: HP:0008353 name: Neutral hyperaminoaciduria xref: UMLS:C1856194 "Neutral hyperaminoaciduria" is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008354 name: Factor X activation deficiency def: "Reduced ability to transform factor X into its activated form factor Xa." [HPO:probinson] is_a: HP:0008321 ! Reduced factor X activity [Term] id: HP:0008356 name: Combined hyperlipidemia xref: UMLS:C0865199 "Combined hyperlipidemia" is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008357 name: Reduced factor XIII activity def: "Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot." [HPO:probinson] is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0008358 name: Hyperprolinemia def: "An increased concentration of proline in the blood." [HPO:gcarletti] xref: UMLS:C0268528 "Hyperprolinaemia" is_a: HP:0010907 ! Abnormality of proline metabolism property_value: HP:0040005 "An increased concentration of `proline` (CHEBI:26271) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0008360 name: Neonatal hypoproteinemia def: "A neonatal decreased concentration of proteins in the blood." [HPO:gcarletti] is_a: HP:0003075 ! Hypoproteinemia property_value: HP:0040005 "A `neonatal` (PATO:0002206) `decreased concentration` (PATO:0001163) of `proteins` (CHEBI:36080) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} [Term] id: HP:0008361 name: Corticospinal tract pallor is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0008362 name: Aplasia/Hypoplasia of the hallux alt_id: HP:0004694 alt_id: HP:0008118 alt_id: HP:0008126 def: "Absence or underdevelopment of the big toe." [HPO:curators] synonym: "Aplastic/hypoplastic halluces" EXACT [] is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010760 ! Absent toe created_by: peter creation_date: 2008-04-04T11:33:00Z [Term] id: HP:0008363 name: Aplasia/Hypoplasia of the tarsal bones alt_id: HP:0008109 def: "Absence or underdevelopment of the tarsal bones." [HPO:curators] synonym: "Aplastic/hypoplastic tarsals" EXACT [] is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet created_by: peter creation_date: 2008-04-04T11:35:00Z [Term] id: HP:0008364 name: Abnormality of the calcaneus def: "An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel." [HPO:probinson] is_a: HP:0001850 ! Abnormality of the tarsal bones property_value: HP:0040005 "An abnormality of the `calcaneus`(FMA:24496), also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T11:38:00Z [Term] id: HP:0008365 name: Abnormality of the talus def: "An abnormality of the talus." [HPO:probinson] is_a: HP:0001850 ! Abnormality of the tarsal bones property_value: HP:0040005 "An abnormality of the `talus` (FMA:9708)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T11:43:00Z [Term] id: HP:0008366 name: Contractures involving the joints of the feet is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0005750 ! Contractures of the joints of the lower limbs created_by: peter creation_date: 2008-04-04T11:44:00Z [Term] id: HP:0008368 name: Tarsal synostosis alt_id: HP:0001851 alt_id: HP:0001957 alt_id: HP:0008092 alt_id: HP:0100330 def: "Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones)." [HPO:probinson] synonym: "Synostosis involving tarsal bones" EXACT [] synonym: "Synostosis of tarsal bones" EXACT [] synonym: "Tarsal bone fusion" EXACT [] synonym: "Tarsal bone synostosis" EXACT [] synonym: "Tarsal fusion" EXACT [] synonym: "Tarsal fusions" EXACT [] xref: UMLS:C1834164 "Tarsal bone synostosis" is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100266 ! Synostosis of carpals/tarsals created_by: peter creation_date: 2008-04-04T11:52:00Z [Term] id: HP:0008369 name: Abnormal tarsal ossification def: "An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." [HPO:probinson] synonym: "Abnormal ossification of tarsal bones" EXACT [] is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0010675 ! Abnormal foot bone ossification property_value: HP:0040005 "An abnormality of the formation and mineralization of any of the `tarsal bones` (FMA:71339), seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T11:53:00Z [Term] id: HP:0008371 name: Abnormal metatarsal ossification def: "Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years." [HPO:probinson] synonym: "Abnormal ossification involving metatarsal bones" EXACT [] is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0010675 ! Abnormal foot bone ossification created_by: peter creation_date: 2008-04-04T11:59:00Z [Term] id: HP:0008372 name: Abnormality of vitamin A metabolism is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: peter creation_date: 2008-04-04T12:29:00Z [Term] id: HP:0008373 name: Puberty and gonadal disorders alt_id: HP:0000827 is_a: HP:0000818 ! Abnormality of the endocrine system created_by: peter creation_date: 2008-04-04T12:35:00Z [Term] id: HP:0008376 name: Nasal, dysarthic speech xref: UMLS:C1839742 "Nasal speech" is_a: HP:0001260 ! Dysarthria [Term] id: HP:0008383 name: Slow-growing nails alt_id: HP:0008411 def: "Nails whose growth is slower than normal." [HPO:probinson] synonym: "Abnormal nail growth" RELATED [] xref: UMLS:C1835238 "Slow-growing nails" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008386 name: Aplasia/Hypoplasia of the nails alt_id: HP:0008385 def: "Aplasia or developmental hypoplasia of the nail." [HPO:probinson] synonym: "Absent/hypoplastic nails" EXACT [] synonym: "Nail aplasia/hypoplasia" EXACT [] is_a: HP:0001597 ! Abnormality of the nail property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the `nail` (FMA:54326)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008388 name: Abnormality of the toenails def: "An anomaly of the toenail." [HPO:probinson] synonym: "Abnormality of the toenail" EXACT [] is_a: HP:0001597 ! Abnormality of the nail property_value: HP:0040005 "An anomaly of the `toenail`(FMA:54328)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008390 name: Recurrent loss of toenails and fingernails def: "Recurrent loss, or shedding, of the nails of the fingers and toes." [DDD:cmoss] synonym: "Recurrent shedding of toenails and fingernails" EXACT [] is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008391 name: Dystrophic fingernails def: "The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate." [HPO:probinson] is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0008392 name: Subungual hyperkeratosis def: "A thickening of the stratum corneum in the region beneath the nails." [HPO:probinson] xref: UMLS:C0038605 "Subungual hyperkeratosis" is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008393 name: Congenital curved nail of fourth toe is_a: HP:0008388 ! Abnormality of the toenails [Term] id: HP:0008394 name: Congenital onychodystrophy is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008396 name: Chronic monilial nail infection def: "Chronic infection of the nails by Candida species." [HPO:probinson] is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008398 name: Hypoplastic fifth fingernail alt_id: HP:0200103 def: "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger." [HPO:probinson] is_a: HP:0001804 ! Hypoplastic fingernail property_value: HP:0040005 "A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped `nail of little finger` (FMA:54341)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008399 name: Circumungual hyperkeratosis def: "A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails." [HPO:probinson] xref: UMLS:C0870082 "Hyperkeratosis" is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0100803 ! Abnormality of the periungual region [Term] id: HP:0008400 name: Onycholysis of distal fingernails def: "Detachment of the distal fingernails from the nail bed." [HPO:probinson] is_a: HP:0040039 ! Onycholysis of fingernails [Term] id: HP:0008401 name: Onychogryposis of toenails alt_id: HP:0008395 alt_id: HP:0008405 def: "Thickened toenails." [HPO:probinson] is_a: HP:0001805 ! Thick nail [Term] id: HP:0008402 name: Ridged fingernail def: "Longitudinal, linear prominences in the fingernail plate." [HPO:probinson, pmid:19125433] synonym: "Longitudinally grooved fingernails" EXACT [] synonym: "RIDGED FINGERNAILS" RELATED [HPO:skoehler] is_a: HP:0001231 ! Abnormality of the fingernails [Term] id: HP:0008404 name: Nail dystrophy alt_id: HP:0008382 alt_id: HP:0008397 alt_id: HP:0008408 def: "Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate." [pmid:19675700] comment: Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use. synonym: "Dystrophic nails" EXACT [] synonym: "Onychodystrophy" EXACT [] xref: MEDRA:10028698 "Nail dystrophy" xref: SNOMEDCT:87065009 "Dystrophia unguium" xref: UMLS:C0221260 "Dystrophia unguium" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008407 name: Hyperconvex thumb nails xref: UMLS:C1855290 "Hyperconvex thumb nails" is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0008410 name: Subungual hyperkeratotic fragments is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008414 name: Lumbar kyphosis in infancy is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0008416 name: Six lumbar vertebrae xref: UMLS:C1839279 "Six lumbar vertebrae" is_a: HP:0002946 ! Supernumerary vertebrae [Term] id: HP:0008417 name: Vertebral hypoplasia alt_id: HP:0008431 def: "Small, underdeveloped vertebral bodies." [HPO:probinson] subset: hposlim_core synonym: "Underdeveloped vertebrae" EXACT [] xref: UMLS:C1834047 "Vertebral hypoplasia" is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008418 name: Squared-off platyspondyly is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0008419 name: Intervertebral disc degeneration def: "The presence of degenerative changes of intervertebral disk." [HPO:probinson] synonym: "Degeneration of intervertebral disks" EXACT [] synonym: "Degenerative intervertebral disk" EXACT [] xref: MeSH:D055959 "intervertebral disc degeneration" xref: UMLS:C0158266 "Intervertebral disc degeneration" is_a: HP:0005108 ! Abnormality of the intervertebral disk property_value: HP:0040005 "The presence of `degenerative changes` (PATO:0002037) of `intervertebral disk` (FMA:10446)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008420 name: Punctate vertebral calcifications def: "The presence of punctiform calcification of the bone of the vertebral bodies." [HPO:probinson] xref: UMLS:C1844842 "Vertebral calcifications" is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0008421 name: Tall lumbar vertebral bodies xref: UMLS:C1863313 "Tall lumbar vertebral bodies" is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0008422 name: Vertebral wedging def: "An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other." [HPO:probinson] synonym: "Wedge-shaped vertebrae" EXACT [] xref: UMLS:C1411176 "Wedge-shaped vertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008423 name: Spinal dysplasia def: "The presence of developmental dysplasia of the vertebral column." [HPO:probinson] is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `vertebral column` (FMA:13478)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008424 name: Hypoplastic 5th lumbar vertebrae xref: UMLS:C1859366 "Hypoplastic 5th lumbar vertebrae" is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008425 name: Cuboid-shaped thoracolumbar vertebral bodies xref: UMLS:C1855289 "Cuboid-shaped thoracolumbar vertebral bodies" is_a: HP:0004634 ! Cuboid-shaped vertebral bodies [Term] id: HP:0008428 name: Vertebral clefting alt_id: HP:0000942 def: "Schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson] comment: Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. synonym: "Vertebral clefts" EXACT [] xref: UMLS:C1855828 "Vertebral clefts" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008430 name: Anterior beaking of lumbar vertebrae alt_id: HP:0005664 def: "Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine." [HPO:probinson] synonym: "Anterior tongue-like protrusion of lumbar vertebral bodies" EXACT [] is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0008432 name: Anterior wedging of L1 def: "An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0008433 name: Reversed usual vertebral column curves is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008434 name: Hypoplastic cervical vertebrae alt_id: HP:0008415 synonym: "Cervical vertebrae hypoplasia" EXACT [] xref: UMLS:C1857265 "Hypoplastic cervical vertebrae" is_a: HP:0008417 ! Vertebral hypoplasia is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008435 name: Absent in utero ossification of vertebral bodies is_a: HP:0004606 ! Unossified vertebral bodies [Term] id: HP:0008436 name: Absent/hypoplastic coccyx is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0008437 name: Bifid thoracic vertebrae xref: UMLS:C1860250 "Bifid vertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008438 name: Vertebral arch anomaly def: "A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra." [HPO:probinson] comment: A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vetebral arch consists of (i) a pair of vertebral pedicles (FMA:11950), which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments. synonym: "Vertebral arch abnormalities" EXACT [] xref: UMLS:C1835764 "Vertebral arch abnormalities" is_a: HP:0003312 ! Abnormal form of the vertebral bodies property_value: HP:0040005 "A morphological abnormality of the `vertebral arch` (FMA:11946), i.e., of the posterior part of a vertebra." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008439 name: Lumbar hemivertebrae def: "Absence of one half of the vertebral body in the lumbar spine." [HPO:probinson] xref: UMLS:C0432149 "Lumbar hemivertebrae" is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008440 name: C1-C2 vertebral abnormality def: "Any abnormality of the atlas and the axis." [HPO:probinson] comment: The atlas is the first cervical vertebral body and the axis is the second vertebral body. xref: UMLS:C1834129 "Vertebral abnormalities" is_a: HP:0003319 ! Abnormality of the cervical spine property_value: HP:0040005 "Any abnormality of the `atlas` (FMA:12519) and the `axis` (FMA:12520)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008441 name: Herniation of intervertebral nuclei def: "The presence of one or more herniated nucleus pulposus of intervertebral disk." [HPO:probinson] subset: hposlim_core synonym: "Herniated intervertebral nuclei" EXACT [] xref: SNOMEDCT:73589001 "Intervertebral disc prolapse" xref: UMLS:C1832597 "Herniated intervertebral nuclei" is_a: HP:0005108 ! Abnormality of the intervertebral disk property_value: HP:0040005 "The presence of one or more `herniated` (PATO:0000643) `nucleus pulposus of intervertebral disk` (FMA:13550)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008442 name: Vertebral hyperostosis def: "Excessive growth of the bones of the vertebral bodies." [HPO:curators] xref: UMLS:C1834057 "Vertebral hyperostosis" is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0100774 ! Hyperostosis [Term] id: HP:0008443 name: Spinal deformities xref: UMLS:C0575157 "Spinal deformities" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008444 name: Posterior wedging of vertebral bodies def: "An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back)." [HPO:probinson] is_a: HP:0008422 ! Vertebral wedging [Term] id: HP:0008445 name: Cervical spinal canal stenosis def: "An abnormal narrowing of the cervical spinal canal." [HPO:probinson] synonym: "Narrow cervical spinal canal" EXACT [] is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0008447 name: Hypoplastic coccygeal vertebrae is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008449 name: Progressive cervical vertebral spine fusion xref: UMLS:C1851129 "Progressive cervical vertebral spine fusion" is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0008450 name: Narrow vertebral interpedicular distance alt_id: HP:0008426 alt_id: HP:0008448 alt_id: HP:0008474 def: "A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [HPO:probinson] subset: hposlim_core synonym: "Interpedicular narrowing" EXACT [] synonym: "Narrow interpedicular space" EXACT [] synonym: "Narrow interpediculate distances" EXACT [] synonym: "Narrowing of interpediculate distances" EXACT [] is_a: HP:0008438 ! Vertebral arch anomaly [Term] id: HP:0008451 name: Posterior vertebral hypoplasia xref: UMLS:C1856780 "Posterior vertebral hypoplasia" is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008452 name: Wafer-thin platyspondyly xref: UMLS:C1865124 "Wafer-thin platyspondyly" is_a: HP:0004565 ! Severe platyspondyly [Term] id: HP:0008453 name: Congenital kyphoscoliosis xref: UMLS:C0345392 "Congenital kyphoscoliosis" is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0008454 name: Lumbar kyphosis alt_id: HP:0008487 def: "Over curvature of the lumbar region." [HPO:probinson] synonym: "Lumbar gibbus deformity" EXACT [] xref: UMLS:C1844818 "Lumbar gibbus deformity" is_a: HP:0100712 ! Abnormality of the lumbar spine [Term] id: HP:0008455 name: Dysplastic sacrum xref: UMLS:C1851305 "Dysplastic sacrum" is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0008456 name: C2-C3 subluxation def: "A partial dislocation of the intervertebral joint between the second and third cervical vertebrae." [HPO:probinson] xref: UMLS:C1848940 "c2-csubluxation" is_a: HP:0003308 ! Cervical subluxation property_value: HP:0040005 "A `partial dislocation` (PATO:0002157) of the `intervertebral joint between the second and third cervical vertebrae` (FMA:25057)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008457 name: Caudal interpedicular narrowing def: "Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine." [HPO:probinson] synonym: "Caudal narrowing of interpedicular distances" EXACT [] is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008458 name: Progressive congenital scoliosis def: "A progressive form of scoliosis with congenital onset." [HPO:probinson] is_a: HP:0002650 ! Scoliosis property_value: HP:0040005 "A progressive form of `scoliosis` (HP:0002650) with congenital onset." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008459 name: Cervical vertebral agenesis def: "Agenesis of one or more vertebrae of the cervical vertebral column." [HPO:probinson] synonym: "Cervical vertebrae agenesis" EXACT [] is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine property_value: HP:0040005 "`Agenesis` (MPATH:57) of one or more vertebrae of the `cervical vertebral column` (FMA:24138)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008460 name: Hypoplastic spinal processes is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008461 name: Cervical vertebral facet hypoplasia is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008462 name: Cervical instability xref: UMLS:C1863314 "Cervical instability" is_a: HP:0005881 ! Spinal instability [Term] id: HP:0008463 name: Central vertebral hypoplasia is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008464 name: Absent spinous processes of lower thoracic and lumbar vertebrae is_a: HP:0008516 ! Abnormality of the vertebral spinous processes [Term] id: HP:0008465 name: Absent vertebrae xref: UMLS:C0158776 "Absent vertebrae" is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008467 name: Thoracic hemivertebrae alt_id: HP:0004604 def: "Absence of one half of the vertebral body in the thoracic spine." [HPO:probinson] synonym: "Midthoracic hemivertebrae" NARROW [] xref: UMLS:C0432152 "Thoracic hemivertebrae" is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008468 name: Abnormal sacral segmentation xref: UMLS:C1968942 "Abnormal sacral segmentation" is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0008469 name: Cervical vertebral dysplasia def: "Dysplasia of the cervical vertebral column." [HPO:probinson] xref: UMLS:C1861693 "CERVICAL VERTEBRAL DYSPLASIA" is_a: HP:0003319 ! Abnormality of the cervical spine property_value: HP:0040005 "`Dysplasia` (MPATH:589) of the `cervical vertebral column` (FMA:24138)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008470 name: Lower thoracic interpediculate narrowness def: "A reduction of the distance between the lower thoracic vertebral pedicles." [HPO:probinson] synonym: "Narrowness of interpediculate distances in lower thoracic regions" EXACT [] is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008472 name: Prominent protruding coccyx xref: UMLS:C1850044 "Prominent protruding coccyx" is_a: HP:0040016 ! Prominent coccyx is_a: HP:0040017 ! Protruding coccyx [Term] id: HP:0008473 name: Narrow anterio-posterior vertebral body diameter alt_id: HP:0005732 def: "An abnormal reduction of the anterioposterior diameter of the vertebral body." [HPO:probinson] synonym: "Reduced sagittal diameter of vertebrae" EXACT [] is_a: HP:0008479 ! Hypoplastic vertebral bodies property_value: HP:0040005 "An abnormal reduction of the anterioposterior diameter of the `vertebral body` (FMA:11945)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008475 name: Hypoplastic sacral vertebrae is_a: HP:0004590 ! Hypoplastic sacrum is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008476 name: Irregular sclerotic endplates alt_id: HP:0004624 synonym: "irregular, dense end plate" EXACT [] is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0008477 name: Poorly ossified cervical vertebrae def: "Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set." [HPO:probinson] is_a: HP:0100856 ! Poorly ossified vertebrae property_value: HP:0040005 "Decreased `ossification` ( GO:0001503) of the cervical vertebral bodies, i.e., of the `Cervical vertebrae set` (FMA:72063)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008478 name: Scheuermann-like vertebral changes is_a: HP:0010891 ! Morbus Scheuermann [Term] id: HP:0008479 name: Hypoplastic vertebral bodies alt_id: HP:0002773 synonym: "Small vertebrae" EXACT [] synonym: "Small vertebral bodies" EXACT [] xref: UMLS:C1850294 "Hypoplastic vertebral bodies" is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0008417 ! Vertebral hypoplasia [Term] id: HP:0008480 name: Cervical spondylosis def: "The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column." [HPO:probinson] xref: UMLS:C1384641 "Cervical spondylosis" is_a: HP:0003319 ! Abnormality of the cervical spine property_value: HP:0040005 "The presence of `arthrosis` (MPATH:27), i.e., of degenerative joint disease, affecting the `cervical vertebral column` (FMA:24138)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008482 name: Asymmetry of spinal facet joints is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008483 name: Cervical vertebral bodies with decreased anteroposterior diameter is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008484 name: Thoracolumbar interpediculate narrowness def: "A reduction of the distance between thoracolumbar vertebral pedicles." [HPO:probinson] synonym: "Narrow thoracolumbar interpediculate distance" EXACT [] xref: UMLS:C1864364 "Narrow thoracolumbar interpediculate distance" is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008486 name: Lumbar interpedicular narrowing def: "Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column." [HPO:probinson] synonym: "Decreasing lumbar vertebrae interpediculate distance" EXACT [] is_a: HP:0008457 ! Caudal interpedicular narrowing [Term] id: HP:0008488 name: Anterior rounding of vertebral bodies is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0008489 name: Spondylolisthesis at L5-S1 alt_id: HP:0005779 def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1)." [HPO:probinson] synonym: "Spondylolysis and spondylolisthesis of l5" EXACT [] is_a: HP:0003302 ! Spondylolisthesis [Term] id: HP:0008490 name: Sacral segmentation defects xref: UMLS:C1850329 "Sacral segmentation defects" is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0008491 name: Premature anterior fontanel closure def: "Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson] is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0008494 name: Inferior lens subluxation def: "Partial displacement of the lens in the inferior direction." [HPO:probinson] is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008496 name: Multiple rows of eyelashes is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0008497 name: Congenital craniofacial dysostosis is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0008498 name: No permanent dentition xref: UMLS:C0348070 "Dentition, Permanent" is_a: HP:0000696 ! Delayed eruption of permanent teeth [Term] id: HP:0008499 name: High-grade hypermetropia def: "A severe form of hypermetropia with over +4.00 diopters." [DDD:ncarter] is_a: HP:0000540 ! Hypermetropia [Term] id: HP:0008501 name: Median cleft lip and palate alt_id: HP:0009089 def: "Cleft lip or palate affecting the midline region of the palate." [HPO:sdoelken] synonym: "Medial cleft lip and palate" EXACT [] synonym: "Midline cleft lip/palate" EXACT [] synonym: "Wide midline cleft lip/palate" EXACT [] is_a: HP:0009099 ! Median cleft palate [Term] id: HP:0008504 name: Moderate sensorineural hearing impairment def: "The presence of a moderate form of sensorineural hearing impairment." [HPO:probinson] synonym: "Moderate neural deafness" RELATED [] is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012713 ! Moderate hearing impairment property_value: HP:0040005 "The presence of a `moderate` (PATO:0000395) form of `sensorineural hearing impairment` (HP:0000407)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008507 name: Static ophthalmoparesis is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0008509 name: Aged leonine appearance is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0008511 name: Central posterior corneal opacity def: "Reduced transparency of the central posterior portion of the corneal stroma." [HPO:probinson] xref: UMLS:C0423260 "Central posterior corneal opacity" is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0008513 name: Bilateral conductive hearing impairment alt_id: HP:0008536 def: "A bilateral type of conductive hearing impairment." [HPO:probinson] synonym: "Bilateral conductive deafness" EXACT [] synonym: "Bilateral conductive hearing loss" EXACT [] xref: UMLS:C0452136 "Conductive hearing loss, bilateral" is_a: HP:0000405 ! Conductive hearing impairment property_value: HP:0040005 "A `bilateral` (PATO:0000618) type of `conductive hearing impairment` (HP:0000405)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008515 name: Aplasia/Hypoplasia of the vertebrae is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column created_by: peter creation_date: 2008-04-04T02:30:00Z [Term] id: HP:0008516 name: Abnormality of the vertebral spinous processes is_a: HP:0003312 ! Abnormal form of the vertebral bodies created_by: peter creation_date: 2008-04-04T02:31:00Z [Term] id: HP:0008517 name: Aplasia/Hypoplasia of the sacrum def: "Aplasia or developmental hypoplasia of the sacral bone." [HPO:probinson] is_a: HP:0005107 ! Abnormality of the sacrum is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the `sacral bone` (FMA:16202)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T02:32:00Z [Term] id: HP:0008518 name: Aplasia/Hypoplasia involving the vertebral column is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-04-04T02:33:00Z [Term] id: HP:0008519 name: Abnormality of the coccyx alt_id: HP:0002830 def: "An abnormality of the coccyx." [HPO:probinson] is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology property_value: HP:0040005 "An abnormality of the `coccyx` (FMA:20229)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T02:41:00Z [Term] id: HP:0008523 name: Posterior helix pit def: "Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated." [pmid:19152421] comment: They are usually linear to a narrow oval in shape and may be single or multiple. subset: hposlim_core synonym: "Ear, posterior helical groove" EXACT [] synonym: "Ear, posterior helical notch" EXACT [] synonym: "Helix, posterior pit" EXACT [] synonym: "Pits in posterior aspect of ear helices" EXACT [] is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008527 name: Congenital sensorineural hearing impairment alt_id: HP:0004455 alt_id: HP:0004457 alt_id: HP:0008520 alt_id: HP:0008521 alt_id: HP:0008540 alt_id: HP:0008543 alt_id: HP:0008545 alt_id: HP:0008546 alt_id: HP:0008556 alt_id: HP:0008558 alt_id: HP:0008561 alt_id: HP:0008571 alt_id: HP:0008603 alt_id: HP:0008612 alt_id: HP:0008620 def: "A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset." [HPO:probinson] synonym: "Bilateral congenital sensorineural deafness" EXACT [] synonym: "Congenital neurosensory deafness" EXACT [] synonym: "Congenital perceptive deafness" EXACT [] synonym: "Congenital sensorineural deafness" EXACT [] synonym: "Congenital sensorineural hearing loss" EXACT [] synonym: "Hearing loss, congenital sensorineural" EXACT [] xref: UMLS:C0339789 "Congenital sensorineural deafness" xref: UMLS:C1865866 "Congenital sensorineural hearing loss" is_a: HP:0000407 ! Sensorineural hearing impairment property_value: HP:0040005 "A type of `hearing impairment` (HP:0000365) caused by an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008528 name: Long hairs growing from helix of pinna is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008529 name: Absence of acoustic reflex alt_id: HP:0008595 def: "Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli." [HPO:probinson] comment: Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex. synonym: "Absence of acoustic middle ear muscle reflexes" EXACT [] synonym: "Absent middle ear reflexes" EXACT [] xref: UMLS:C1836748 "Absent middle ear reflexes" is_a: HP:0040121 ! Abnormality of the acoustic reflex [Term] id: HP:0008537 name: Cleft at the superior portion of the pinna comment: This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix. is_a: HP:0009902 ! Cleft helix [Term] id: HP:0008541 name: Superiorly displaced ears xref: UMLS:C1850190 "Superiorly displaced ears" is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0008542 name: Low-frequency hearing loss def: "A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)." [HPO:probinson] is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "A type of `hearing impairment` (HP:0000365) affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008544 name: Abnormally folded helix xref: UMLS:C1970777 "Abnormally folded helix" is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008551 name: Microtia alt_id: HP:0000393 alt_id: HP:0000409 alt_id: HP:0008550 alt_id: HP:0008618 alt_id: HP:0008621 def: "Underdevelopment of the external ear." [HPO:probinson, pmid:19152421, pmid:3270622] comment: The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. subset: hposlim_core synonym: "Bilateral microtia" EXACT [] synonym: "Hypoplasia of the external ear" EXACT [] synonym: "Hypoplastic ears" EXACT [] synonym: "Hypoplastic pinna" EXACT [] synonym: "Small ears" EXACT [] synonym: "Small pinnae" EXACT [] synonym: "Underdeveloped ears" EXACT [] xref: MeSH:C537772 "Microtia" xref: SNOMEDCT:35045004 "Microtia" xref: UMLS:C0152423 "Microtia" is_a: HP:0000377 ! Abnormality of the pinna is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear property_value: HP:0040005 "Underdevelopment of the `external ear` (FMA:52781)." xsd:string {xref="HPO:probinson", xref="pmid:19152421", xref="pmid:3270622"} [Term] id: HP:0008554 name: Cochlear malformation def: "The presence of a malformed cochlea." [HPO:probinson] comment: A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two. xref: UMLS:C1862050 "Cochlear malformation" is_a: HP:0000375 ! Abnormality of cochlea property_value: HP:0040005 "The presence of a `malformed` (PATO:0000646) `cochlea` (FMA:60201)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008555 name: Absent vestibular function def: "Complete lack of functioning of the vestibular apparatus." [HPO:probinson] is_a: HP:0001756 ! Vestibular hypofunction [Term] id: HP:0008559 name: Hypoplastic superior helix alt_id: HP:0008627 synonym: "Underdeveloped superior helices" EXACT [] xref: UMLS:C1862057 "Hypoplastic superior helix" is_a: HP:0008589 ! Hypoplastic helices [Term] id: HP:0008568 name: Vestibular areflexia alt_id: HP:0008526 def: "Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography." [HPO:probinson] synonym: "Vestibular ataxia" RELATED [] is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex [Term] id: HP:0008569 name: Microtia, second degree def: "Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear." [eom:ae27d9699faef13a, pmid:19152421] synonym: "Cockleshell ear" RELATED [] synonym: "Constricted helix type IV" RELATED [] synonym: "Ear, grade II dysplasia" RELATED [] synonym: "Mini ear" RELATED [] synonym: "Severe cupped ear, type III" RELATED [] synonym: "Shell ear" RELATED [] synonym: "Snail ear" RELATED [] is_a: HP:0008551 ! Microtia [Term] id: HP:0008572 name: External ear malformation alt_id: HP:0008594 def: "A malformation of the auricle of the ear." [HPO:probinson] is_a: HP:0000356 ! Abnormality of the outer ear property_value: HP:0040005 "A malformation of the `auricle of the ear` (FMA:56580)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008573 name: Low-frequency sensorineural hearing impairment def: "A form of sensorineural hearing impairment that affects primarily the lower frequencies." [HPO:probinson] synonym: "Low-frequency sensorineural hearing loss" EXACT [] is_a: HP:0000407 ! Sensorineural hearing impairment property_value: HP:0040005 "A form of `sensorineural hearing impairment` (HP:0008538) that affects primarily the lower frequencies." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008577 name: Underfolded helix def: "Underdevelopment of the helix that either affects the entire helix, or is localized." [pmid:19152421] comment: Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged. synonym: "Poorly folded helices" EXACT [] xref: UMLS:C1849735 "Poorly folded helices" is_a: HP:0008544 ! Abnormally folded helix [Term] id: HP:0008583 name: Underfolded superior helices def: "A condition in which the superior portion of the helix is folded over to a lesser degree than normal." [HPO:probinson] xref: UMLS:C1845869 "Unfolded superior helices" is_a: HP:0008577 ! Underfolded helix property_value: HP:0040005 "A condition in which the superior portion of the `helix` (FMA:60992) is `folded` (PATO:0001910) over to a lesser degree than normal." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008586 name: Hypoplasia of the cochlea def: "Developmental hypoplasia of the cochlea." [HPO:probinson] synonym: "Hypoplastic cochlea" EXACT [] is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea property_value: HP:0040005 "Developmental hypoplasia of the `cochlea` (FMA:60201)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008587 name: Mild neurosensory hearing impairment def: "The presence of a mild form of sensorineural hearing impairment." [HPO:probinson] comment: A neurosensory hearing loss with a deficit of 21-40 dB. synonym: "Mild neurosensory hearing loss" EXACT [] is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012712 ! Mild hearing impairment property_value: HP:0040005 "The presence of a `mild` (PATO:0000394) form of `sensorineural hearing impairment` (HP:0000407)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008588 name: Slit-like opening of the exterior auditory meatus def: "A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit." [pmid:12843316] is_a: HP:0000402 ! Stenosis of the external auditory canal [Term] id: HP:0008589 name: Hypoplastic helices def: "Underdevelopment of the helix, i.e., of the outer rim of the pinna." [HPO:curators] xref: UMLS:C1842681 "Hypoplastic helices" is_a: HP:0011039 ! Abnormality of the helix property_value: HP:0040005 "Underdevelopment of the `helix` (FMA:60992), i.e., of the outer rim of the pinna." xsd:string {xref="HPO:curators"} [Term] id: HP:0008591 name: Congenital conductive hearing impairment alt_id: HP:0008525 def: "A type of conductive deafness with congenital onset." [HPO:probinson] synonym: "Congenital conductive deafness" EXACT [] synonym: "Congenital conductive hearing loss" EXACT [] is_a: HP:0000405 ! Conductive hearing impairment property_value: HP:0040005 "A type of `conductive deafness` (HP:0000367) with `congenital onset` (HP:0003577)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008593 name: Prominent antitragus def: "Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [HPO:curators, pmid:19152421] synonym: "Enlarged antitragus" EXACT [] synonym: "Hyperplastic antitragus" EXACT [] synonym: "Hypertrophic antitragus" EXACT [] xref: UMLS:C1968811 "Prominent antitragus" is_a: HP:0009896 ! Abnormality of the antitragus [Term] id: HP:0008596 name: Postlingual sensorineural hearing impairment def: "A form of sensorineural hearing impairment with onset after the acquisition of speech." [HPO:probinson] is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment property_value: HP:0040005 "A form of `sensorineural hearing impairment` (HP:0000407) with onset after the acquisition of speech." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008598 name: Mild conductive hearing impairment def: "A mild form of conductive hearing impairment." [HPO:probinson] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, mild" EXACT [] is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment property_value: HP:0040005 "A `mild` (PATO:0000394) form of `conductive hearing impairment` (HP:0000405)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008605 name: Unilateral external ear deformity xref: UMLS:C1834043 "Unilateral external ear deformity" is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008606 name: Supraauricular pit def: "Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] synonym: "Supraauricular sinus" EXACT [] synonym: "Supraauricular sinuses" EXACT [] xref: UMLS:C1862059 "Supraauricular sinuses" is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0008607 name: Progressive conductive hearing impairment def: "A progressive type of conductive deafness." [HPO:probinson] synonym: "Progressive conductive deafness" EXACT [] xref: UMLS:C1861325 "Progressive conductive deafness" is_a: HP:0000405 ! Conductive hearing impairment property_value: HP:0040005 "A `progressive` (PATO:0001818) type of `conductive deafness` (HP:0000367)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008608 name: Hypertrophic auricular cartilage xref: UMLS:C1857263 "Hypertrophic auricular cartilage" is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008609 name: Morphological abnormality of the middle ear def: "An abnormality of the morphology or structure of the middle ear." [DDD:mbitner-glidicz] synonym: "Middle ear malformation" EXACT [] xref: UMLS:C1857456 "Middle ear malformations" is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0008610 name: Infantile sensorineural hearing impairment def: "A form of sensorineural hearing impairment with infantile onset." [HPO:probinson] synonym: "Infantile sensorineural hearing loss" EXACT [] is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment property_value: HP:0040005 "A form of `sensorineural hearing impairment` (HP:0000407) with `infantile onset` (HP:0003593)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008615 name: Adult onset sensorineural hearing impairment alt_id: HP:0008532 alt_id: HP:0008599 def: "The presence of sensorineural deafness with late onset." [HPO:probinson] synonym: "Late sensorineural hearing loss" EXACT [] synonym: "Sensorineural deafness, late-onset" EXACT [] is_a: HP:0000407 ! Sensorineural hearing impairment property_value: HP:0040005 "The presence of `sensorineural deafness` (HP:0008538) with `late onset` (HP:0003596)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008619 name: Bilateral sensorineural hearing impairment alt_id: HP:0008530 alt_id: HP:0008539 alt_id: HP:0008579 alt_id: HP:0008585 def: "A bilateral form of sensorineural hearing impairment." [HPO:probinson] synonym: "Bilateral nerve deafness" EXACT [] synonym: "Bilateral sensorineural deafness" EXACT [] synonym: "Bilateral sensorineural hearing loss" EXACT [] synonym: "Hearing loss, sensorineural, bilateral" EXACT [] is_a: HP:0000407 ! Sensorineural hearing impairment property_value: HP:0040005 "A `bilateral` (PATO:0000618) form of `sensorineural hearing impairment` (HP:0000407)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008625 name: Severe sensorineural hearing impairment alt_id: HP:0008534 alt_id: HP:0008574 def: "A severe form of sensorineural hearing impairment." [HPO:probinson] synonym: "Severe sensorineural hearing loss" EXACT [] is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012714 ! Severe hearing impairment property_value: HP:0040005 "A `severe` (PATO:0000396) form of `sensorineural hearing impairment` (HP:0000407)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008628 name: Abnormality of the stapes def: "An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear." [HPO:probinson] synonym: "Stapedial abnormalities" EXACT [] is_a: HP:0004452 ! Abnormality of the middle ear ossicles property_value: HP:0040005 "An abnormality of the `stapes` (FMA:52751), a stirrup-shaped ossicle in the middle ear." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008629 name: Pulsatile tinnitus def: "Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus." [HPO:curators] xref: UMLS:C0751559 "Pulsatile Tinnitus" is_a: HP:0000360 ! Tinnitus [Term] id: HP:0008631 name: Ureteral dysgenesis def: "A developmental anomaly of the ureter." [HPO:probinson] comment: If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen. is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0008633 name: Absent gonadal tissue is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008635 name: Hypertrophy of the urinary bladder def: "Abnormal enlargement of the urinary bladder." [HPO:probinson] synonym: "Hypertrophic urinary bladder" EXACT [] is_a: HP:0000014 ! Abnormality of the bladder property_value: HP:0040005 "Abnormal enlargement of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008636 name: Lobular glomerulopathy is_a: HP:0000095 ! Abnormality of the glomerulus [Term] id: HP:0008639 name: Gonadal hypoplasia xref: UMLS:C0239761 "GONADAL HYPOPLASIA" is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008640 name: Congenital macroorchidism is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0008643 name: Nephroblastomatosis def: "Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood." [HPO:probinson, pmid:10707720] is_a: HP:0011794 ! Embryonal renal neoplasm [Term] id: HP:0008647 name: Pubertal developmental failure in females is_a: HP:0008197 ! Absence of pubertal development [Term] id: HP:0008648 name: Anteriorly displaced urethral meatus is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0008651 name: Uric acid urolithiasis independent of gout is_a: HP:0000791 ! Uric acid nephrolithiasis [Term] id: HP:0008652 name: Autonomic erectile dysfunction def: "Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system." [HPO:probinson] synonym: "Impotence due to autonomic dysfunction" EXACT [] is_a: HP:0002459 ! Dysautonomia [Term] id: HP:0008653 name: Crescentic glomerulonephritis def: "A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation." [Eurenomics:ewuehl] xref: UMLS:C0268750 "Necrotising glomerulonephritis" is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0008655 name: Aplasia/Hypoplasia of the fallopian tube def: "Aplasia or developmental hypoplasia of the fallopian tube." [HPO:probinson] synonym: "Absent or rudimentary fallopian tubes" RELATED [] is_a: HP:0011027 ! Abnormality of the fallopian tube property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the `fallopian tube` (FMA:18245)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008656 name: Incomplete male pseudohermaphroditism is_a: HP:0000037 ! Male pseudohermaphroditism [Term] id: HP:0008659 name: Multiple small medullary renal cysts alt_id: HP:0005569 alt_id: HP:0100956 def: "The presence of many cysts in the medulla of the kidney." [Eurenomics:ewuehl] comment: This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease. synonym: "Medullary cystic disease" RELATED [] synonym: "Medullary sponge kidney disease" RELATED [] xref: UMLS:C0687120 "Medullary cystic disease NOS" is_a: HP:0000107 ! Renal cyst is_a: HP:0100957 ! Abnormality of the renal medulla property_value: HP:0040005 "The presence of many cysts in the `medulla of the kidney` (FMA:15582)." xsd:string {xref="Eurenomics:ewuehl"} [Term] id: HP:0008660 name: Renotubular dysgenesis def: "A developmental defect characterized by absence or poor development of proximal renal tubules." [HPO:probinson] comment: Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence. synonym: "Renal tubular dysgenesis" EXACT [] xref: UMLS:C0266313 "Renotubular dysgenesis" is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0008661 name: Urethral stenosis def: "Abnormal narrowing of the urethra." [HPO:probinson] xref: UMLS:C0041974 "Urethral Stenosis" is_a: HP:0000796 ! Urethral obstruction [Term] id: HP:0008663 name: Renal sarcoma def: "A sarcoma of the kidney." [HPO:probinson] is_a: HP:0009726 ! Renal neoplasm is_a: HP:0100242 ! Sarcoma property_value: HP:0040005 "A `sarcoma` (MPATH:551) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008664 name: Urethral sphincter sclerosis is_a: HP:0008661 ! Urethral stenosis [Term] id: HP:0008665 name: Clitoral hypertrophy alt_id: HP:0008728 def: "Hypertrophy of the clitoris." [HPO:probinson] synonym: "Hypertrophic clitoris" EXACT [] xref: UMLS:C1853569 "Clitoral hypertrophy" is_a: HP:0000056 ! Abnormality of the clitoris property_value: HP:0040005 "`Hypertrophy` (MPATH:159) of the `clitoris` (FMA:9909)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008666 name: Impaired histidine renal tubular absorption is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008668 name: Gonadal dysgenesis, male def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation." [HPO:sdoelken] synonym: "46,xy gonadal dysgenesis" EXACT [] is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008669 name: Abnormal spermatogenesis def: "Incomplete maturation or aberrant formation of the male gametes." [HPO:probinson, MP:0001156] synonym: "Abnormal sperm development" RELATED [] synonym: "Impaired spermatogenesis" EXACT [] xref: UMLS:C1859620 "Impaired spermatogenesis" is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0008670 name: Partial vaginal septum is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008672 name: Calcium oxalate nephrolithiasis alt_id: HP:0008700 alt_id: HP:0008725 def: "The presence of calcium- and oxalate-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Calcium oxalate urolithiasis" RELATED [] synonym: "Oxalate nephrolithiasis" EXACT [] is_a: HP:0004724 ! Calcium nephrolithiasis [Term] id: HP:0008675 name: Enlarged polycystic ovaries is_a: HP:0000147 ! Polycystic ovaries is_a: HP:0100879 ! Enlarged ovaries [Term] id: HP:0008676 name: Congenital megaureter def: "A developmental disturbance with extreme ureteral dilatation." [HPO:probinson] comment: The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction. synonym: "Congenital megaloureter" EXACT [] xref: UMLS:C0266324 "Congenital megaloureter" is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0008677 name: Congenital nephrotic syndrome def: "Nephrotic syndrome with onset within the first three months of life." [Eurenomics:fschaefer] synonym: "Congenital nephrosis" EXACT [] xref: UMLS:C0403399 "NEPHROSIS, CONGENITAL" is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008678 name: Renal hypoplasia/aplasia alt_id: HP:0004744 alt_id: HP:0008701 def: "Absence or underdevelopment of the kidney." [HPO:probinson] synonym: "Renal agenesis/hypoplasia" EXACT [] synonym: "Renal aplasia/hypoplasia" EXACT [] is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0008682 name: Acute tubular necrosis def: "Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases." [HPO:probinson] synonym: "Renal tubular necrosis" EXACT [] xref: UMLS:C1720775 "Renal tubular necrosis" is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0008683 name: Enlarged labia minora def: "Increase in size of the folds of skin between the outer labia." [HPO:probinson] xref: UMLS:C1849358 "Enlarged labia minora" is_a: HP:0000065 ! Labial hypertrophy is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0008684 name: Aplasia/hypoplasia of the uterus def: "Absence or developmental hypoplasia of the uterus." [HPO:probinson] is_a: HP:0000130 ! Abnormality of the uterus property_value: HP:0040005 "Absence or developmental hypoplasia of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008687 name: Hypoplasia of the prostate synonym: "Hypoplastic prostate" EXACT [] xref: UMLS:C1844923 "Hypoplastic prostate" is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008689 name: Bilateral cryptorchidism alt_id: HP:0008686 def: "Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson] synonym: "Cryptorchidism, bilateral" EXACT [] xref: UMLS:C0431663 "Bilateral Cryptorchidism" is_a: HP:0000028 ! Cryptorchidism [Term] id: HP:0008691 name: Solitary bladder diverticulum def: "Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder." [Eurenomics:fschaefer] is_a: HP:0000015 ! Bladder diverticulum property_value: HP:0040005 "Presence of a single `diverticulum` (MPATH:68) (sac or pouch) in the `wall of the urinary bladder` (FMA:15902)." xsd:string {xref="Eurenomics:fschaefer"} [Term] id: HP:0008694 name: Hypertrophic labia minora alt_id: HP:0008662 synonym: "Labia minora hypertrophy" EXACT [] xref: UMLS:C1853570 "Labia minora hypertrophy" is_a: HP:0012880 ! Abnormality of the labia minora [Term] id: HP:0008695 name: Transient nephrotic syndrome is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008696 name: Renal hamartoma def: "A disordered proliferation of mature tissues that are native to the kidneys." [DDD:rscott, HPO:probinson] is_a: HP:0009726 ! Renal neoplasm is_a: HP:0010566 ! Hamartoma [Term] id: HP:0008697 name: Hypoplasia of the fallopian tube def: "Developmental hypoplasia of the fallopian tube." [HPO:probinson] synonym: "Rudimentary fallopian tubes" RELATED [] xref: UMLS:C1968706 "Rudimentary fallopian tubes" is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube property_value: HP:0040005 "Developmental hypoplasia of the `fallopian tube` (FMA:18245)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008702 name: Absent internal genitalia is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008703 name: Gonadal calcification def: "Deposition of calcium salts in gonadal tissue." [HPO:probinson] is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0008705 name: Ureteral triplication is_a: HP:0000073 ! Ureteral duplication [Term] id: HP:0008706 name: Distal urethral duplication is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008707 name: Absent scrotum def: "Congenital absence of the scrotum." [HPO:probinson] comment: Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately. is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0008708 name: Partial development of the penile shaft is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0008711 name: Benign prostatic hyperplasia def: "The presence of non-malignant hyperplasia of the prostate." [HPO:probinson] synonym: "Benign prostatic hypertrophy" EXACT [] xref: UMLS:C1704272 "Benign Prostatic Hyperplasia" is_a: HP:0008775 ! Abnormality of the prostate property_value: HP:0040005 "The presence of `non-malignant` (PATO:0002096) `hyperplasia` (MPATH:134) of the `prostate` (FMA:9600)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008714 name: Ureterovesical stenosis xref: UMLS:C1856935 "URETEROVESICAL STENOSIS" is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0008715 name: Testicular dysgenesis xref: UMLS:C0302885 "Testicular dysgenesis" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008716 name: Urethrovaginal fistula def: "The presence of a fistula between the vagina and the urethra." [HPO:probinson] synonym: "Urethrovaginal fistulae" EXACT [] xref: UMLS:C0269133 "Urethrovaginal fistulae" is_a: HP:0004320 ! Vaginal fistula is_a: HP:0010480 ! Urethral fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) between the `vagina` (FMA:19949) and the `urethra` (FMA:19667)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008717 name: Unilateral renal atrophy def: "A unilateral form of atrophy of the kidney." [HPO:probinson] xref: UMLS:C1827184 "Unilateral renal atrophy" is_a: HP:0012585 ! Renal atrophy property_value: HP:0040005 "A `unilateral` (PATO:0000634) form of `atrophy` (MPATH:127) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008718 name: Unilateral renal dysplasia def: "A unilateral form of developmental dysplasia of the kidney." [HPO:probinson] xref: UMLS:C0431697 "Unilateral renal dysplasia" is_a: HP:0000110 ! Renal dysplasia property_value: HP:0040005 "A `unilateral` (PATO:0000634) form of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008720 name: Primary testicular failure xref: UMLS:C1384582 "Primary testicular failure" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008722 name: Urethral diverticulum def: "The presence of a diverticulum (sac or pouch) in the wall of the urethra." [HPO:curators] xref: UMLS:C0152443 "Urethral diverticulum" is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008723 name: Gonadal dysgenesis with female appearance, male def: "Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation." [HPO:sdoelken] comment: Very bad term - try to get rid of it later. synonym: "Xy female gonadal dysgenesis" RELATED [] is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008724 name: Hypoplasia of the ovary def: "Developmental hypoplasia of the ovary." [HPO:probinson] synonym: "Hypoplastic ovary" RELATED [] xref: UMLS:C1835452 "Hypoplastic ovary" is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary property_value: HP:0040005 "Developmental hypoplasia of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008726 name: Hypoplasia of the vagina alt_id: HP:0011938 def: "Developmental hypoplasia of the vagina." [HPO:probinson] synonym: "Hypoplastic vagina" RELATED [] synonym: "Rudimentary vagina" EXACT [] xref: UMLS:C1861542 "Hypoplastic vagina" is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina property_value: HP:0040005 "Developmental hypoplasia of the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008729 name: Absence of labia majora is_a: HP:0012881 ! Abnormality of the labia majora [Term] id: HP:0008730 name: Female external genitalia in individual with 46,XY karyotype alt_id: HP:0008719 def: "The presence of female external genitalia in a person with a male karyotype." [HPO:probinson] synonym: "Males with female external genitalia" EXACT [] is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0008732 name: Renal hypophosphatemia is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008733 name: Dysplastic testes xref: UMLS:C1837380 "Dysplastic testes" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008734 name: Decreased testicular size alt_id: HP:0000043 def: "Reduced volume of the testicle (the male gonad)." [HPO:probinson] synonym: "Hypoplastic testes" EXACT [] synonym: "Small testes" EXACT [] synonym: "Small testis" EXACT [] synonym: "Testicular hypoplasia" EXACT [] xref: UMLS:C1860124 "Decreased testicular size" is_a: HP:0000050 ! Hypoplastic male external genitalia is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes [Term] id: HP:0008736 name: Hypoplasia of penis alt_id: HP:0008632 synonym: "Underdeveloped penis" EXACT [] is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000050 ! Hypoplastic male external genitalia [Term] id: HP:0008738 name: Partially duplicated kidney def: "The presence of a partially duplicated kidney." [HPO:probinson] is_a: HP:0000075 ! Renal duplication [Term] id: HP:0008739 name: Labial pseudohypertrophy xref: UMLS:C1835380 "Labial pseudohypertrophy" is_a: HP:0000065 ! Labial hypertrophy [Term] id: HP:0008740 name: Longitudinal vaginal septum alt_id: HP:0008698 def: "The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication." [HPO:curators] synonym: "Vertical vaginal septum" EXACT [] xref: UMLS:C1841680 "Longitudinal vaginal septum" is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008742 name: Prominent prostate median bar is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008743 name: Coronal hypospadias def: "A mild form of hypospadias in which the urethra opens just under the corona glandis." [HPO:probinson] synonym: "Subcoronal hypospadias" RELATED [] xref: UMLS:C1394030 "Coronal hypospadias" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0008744 name: Abnormality of the aryepiglottic fold def: "An abnormality of the aryepiglottic fold." [HPO:probinson] comment: The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage. synonym: "Abnormal aryepiglottic folds" EXACT [] xref: UMLS:C1849357 "Abnormal aryepiglottic folds" is_a: HP:0001600 ! Abnormality of the larynx property_value: HP:0040005 "An abnormality of the `aryepiglottic fold` (FMA:55448)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008747 name: Cartilaginous ossification of larynx def: "Ossification affecting the set of cartilages of larynx." [HPO:probinson] comment: This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage). is_a: HP:0001600 ! Abnormality of the larynx property_value: HP:0040005 "Ossification affecting the `set of cartilages of larynx` (FMA:64159)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008749 name: Laryngeal hypoplasia alt_id: HP:0005935 def: "Underdevelopment of the larynx (FMA:55097)." [HPO:probinson] synonym: "Hypoplastic larynx" EXACT [] xref: UMLS:C0431527 "Laryngeal hypoplasia" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008750 name: Laryngeal atresia def: "Congenital absence of the lumen of the larynx." [eMedicine:837630, HPO:probinson, pmid:17715321] comment: Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth. xref: UMLS:C1857462 "Laryngeal atresia" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008751 name: Laryngeal cleft def: "Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus." [HPO:probinson, pmid:17178945] comment: Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft. synonym: "Laryngotracheal cleft" EXACT [] synonym: "Laryngotracheoesophageal cleft i" EXACT [] xref: UMLS:C1840311 "Laryngeal cleft" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008752 name: Laryngeal cartilage malformation alt_id: HP:0008375 def: "A malformation of the laryngeal cartilage." [HPO:probinson] synonym: "Vocal impairment, severe, due to laryngeal cartilage abnormalities" EXACT [] xref: UMLS:C1835645 "Laryngeal cartilage malformations" is_a: HP:0001600 ! Abnormality of the larynx property_value: HP:0040005 "A malformation of the `laryngeal cartilage` (FMA:55108)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008753 name: Aplasia of the epiglottis def: "Absence of the epiglottis." [HPO:probinson] is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis property_value: HP:0040005 "Absence of the `epiglottis` (FMA:55130)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008754 name: Laryngeal calcification alt_id: HP:0008748 def: "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [HPO:probinson] synonym: "Laryngeal calcifications" EXACT [] xref: UMLS:C1859158 "Laryngeal calcification" is_a: HP:0001600 ! Abnormality of the larynx is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0008755 name: Laryngotracheomalacia xref: UMLS:C0585984 "Laryngotracheomalacia" is_a: HP:0002779 ! Tracheomalacia [Term] id: HP:0008756 name: Bowing of the vocal cords def: "Bowing (abnormal curvature) of the vocal folds." [HPO:probinson] is_a: HP:0008777 ! Abnormality of the vocal cords property_value: HP:0040005 "Bowing (abnormal curvature) of the `vocal folds` (FMA:55457)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008757 name: Unilateral vocal cord paralysis def: "A loss of the ability to move the vocal fold on one side." [HPO:probinson] synonym: "Unilateral paralysis of the vocal cord" EXACT [] is_a: HP:0001605 ! Vocal cord paralysis property_value: HP:0040005 "A loss of the ability to move the `vocal fold` (FMA:55457) on one side." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008760 name: Violent behavior xref: UMLS:C0424323 "Violent behavior" is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior [Term] id: HP:0008762 name: Repetitive compulsive behavior xref: UMLS:C1969697 "Repetitive compulsive behavior" is_a: HP:0000733 ! Stereotypic behavior [Term] id: HP:0008763 name: No social interaction xref: UMLS:C0037420 "Social Interaction" is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0008765 name: Auditory hallucinations alt_id: HP:0000714 xref: UMLS:C0233762 "Hallucinations, Auditory" is_a: HP:0000738 ! Hallucinations [Term] id: HP:0008767 name: Self-mutilation of tongue and lips due to involuntary movements is_a: HP:0000742 ! Self-mutilation is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0008768 name: Inappropriate sexual behavior xref: UMLS:C0474420 "Inappropriate sexual behavior" is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0008770 name: Obsessive-compulsive trait alt_id: HP:0008761 def: "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [HPO:curators] synonym: "Obsessive-compulsive traits" EXACT [] xref: UMLS:C1834433 "Obsessive-compulsive trait" is_a: HP:0000722 ! Obsessive-compulsive behavior [Term] id: HP:0008771 name: Aplasia/Hypoplasia of the ear def: "The presence of aplasia or developmental hypoplasia of the ear." [HPO:probinson] is_a: HP:0000598 ! Abnormality of the ear property_value: HP:0040005 "The presence of `aplasia` (MPATH:58) or developmental hypoplasia of the `ear` (FMA:52780)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T05:44:00Z [Term] id: HP:0008772 name: Aplasia/Hypoplasia of the external ear def: "The presence of aplasia or developmental hypoplasia of all or part of the external ear." [HPO:probinson] is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear property_value: HP:0040005 "The presence of `aplasia` (MPATH:58) or developmental hypoplasia of all or part of the `external ear` (FMA:52781)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T05:45:00Z [Term] id: HP:0008773 name: Aplasia/Hypoplasia of the middle ear alt_id: HP:0008533 alt_id: HP:0008548 def: "Aplasia or developmental hypoplasia of all or part of the middle ear." [HPO:probinson] synonym: "Hypoplastic/aplastic middle ear structures" EXACT [] synonym: "Middle ear hypoplasia/aplasia" EXACT [] is_a: HP:0008609 ! Morphological abnormality of the middle ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of all or part of the `middle ear` (FMA:56513)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T05:47:00Z [Term] id: HP:0008774 name: Aplasia/Hypoplasia of the inner ear def: "Aplasia or developmental hypoplasia of the inner ear." [HPO:probinson] is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear is_a: HP:0011390 ! Morphological abnormality of the inner ear property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the `inner ear` (FMA:60909)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T05:48:00Z [Term] id: HP:0008775 name: Abnormality of the prostate def: "An abnormality of the prostate." [HPO:probinson] is_a: HP:0000022 ! Abnormality of male internal genitalia property_value: HP:0040005 "An abnormality of the `prostate` (FMA:9600)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T06:01:00Z [Term] id: HP:0008776 name: Abnormality of the renal artery def: "An abnormality of the renal artery." [HPO:probinson] is_a: HP:0011004 ! Abnormality of the systemic arterial tree is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "An abnormality of the `renal artery` (FMA:14751)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T06:13:00Z [Term] id: HP:0008777 name: Abnormality of the vocal cords def: "An abnormality of the vocal cord." [HPO:probinson] comment: The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx. is_a: HP:0001600 ! Abnormality of the larynx property_value: HP:0040005 "An abnormality of the `vocal cord` (FMA:55457)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T06:18:00Z [Term] id: HP:0008780 name: Congenital bilateral hip dislocation xref: UMLS:C0158713 "Congenital bilateral hip dislocation" is_a: HP:0001374 ! Congenital hip dislocation [Term] id: HP:0008783 name: Wide proximal femoral metaphysis def: "Increased width of the proximal part of the shaft (metaphysis) of the femur." [HPO:probinson] is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0008784 name: Wide capital femoral epiphyses def: "Abnormally wide morphology of the proximal epiphysis of the femur." [HPO:probinson] is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head property_value: HP:0040005 "Abnormally wide morphology of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008785 name: Delayed ossification of pubic rami def: "Delayed maturation and calcification of the rami (branches) of the pubic bone." [HPO:probinson] is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008786 name: Iliac crest serration alt_id: HP:0008825 def: "Irregularities of the iliac crest that produce the appearance of a lace border around it." [HPO:probinson] synonym: "Irregular lacy iliac crest" EXACT [] synonym: "Lacy appearance of iliac crest" EXACT [] xref: UMLS:C1857186 "Irregular lacy iliac crest" is_a: HP:0003796 ! Irregular iliac crest [Term] id: HP:0008788 name: Delayed pubic bone ossification alt_id: HP:0008795 alt_id: HP:0008827 def: "Delayed maturation and calcification of the pubic bone." [HPO:probinson] subset: hposlim_core synonym: "Absent pubic ossification in infancy" EXACT [] synonym: "Delayed mineralization of pubic bone" RELATED [] xref: UMLS:C1866710 "Delayed pubic bone ossification" is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008789 name: Cone-shaped capital femoral epiphysis def: "A cone-shaped deformity of the proximal epiphysis of the femur." [HPO:probinson] xref: UMLS:C1846157 "Cone-shaped capital femoral epiphyses" is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010579 ! Cone-shaped epiphysis property_value: HP:0040005 "A cone-shaped deformity of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008790 name: Widened proximal femoral metaphyses is_a: HP:0006417 ! Broad femoral metaphyses [Term] id: HP:0008794 name: Dysplastic iliac wings xref: UMLS:C1837487 "Dysplastic iliac wings" is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0008796 name: Externally rotated hips xref: UMLS:C1846339 "Externally rotated hips" is_a: HP:0003783 ! Externally rotated/abducted legs [Term] id: HP:0008797 name: Early ossification of capital femoral epiphyses def: "Developmental acceleration of ossification of the proximal epiphysis of the femur." [HPO:probinson] is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010656 ! Abnormal epiphyseal ossification property_value: HP:0040005 "Developmental acceleration of ossification of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008798 name: Widened sacrosciatic notch def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch." [HPO:probinson] is_a: HP:0030266 ! Abnormality of the sacroiliac notch [Term] id: HP:0008800 name: Limited hip movement def: "A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip." [HPO:probinson] xref: UMLS:C1851542 "Limited hip movement" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0008801 name: Hypoplasia of the lesser trochanter def: "Underdevelopment of the lesser trochanter." [HPO:probinson] synonym: "Lesser trochanter hypoplasia" EXACT [] xref: UMLS:C1840062 "Lesser trochanter hypoplasia" is_a: HP:0003366 ! Abnormality of the femoral neck or head region is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "Underdevelopment of the `lesser trochanter` (FMA:32853)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008802 name: Hypoplasia of the femoral head alt_id: HP:0008831 def: "Underdevelopment of the femoral head." [HPO:probinson] synonym: "Hypoplastic femoral head" EXACT [] synonym: "Small femoral heads" EXACT [] xref: UMLS:C1970688 "Hypoplastic femoral head" is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "Underdevelopment of the `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008803 name: Narrow sacroiliac notch def: "The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch." [HPO:probinson] xref: UMLS:C1850087 "Narrow sacroiliac notch" is_a: HP:0030266 ! Abnormality of the sacroiliac notch [Term] id: HP:0008804 name: Broad femoral head def: "Increased width of the femoral head." [HPO:probinson] is_a: HP:0003368 ! Abnormality of the femoral head property_value: HP:0040005 "Increased width of the `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008807 name: Acetabular dysplasia alt_id: HP:0008799 def: "The presence of developmental dysplasia of the acetabular part of hip bone." [HPO:probinson] synonym: "Dysplastic acetabulae" EXACT [] xref: UMLS:C1306065 "Acetabular dysplasia" is_a: HP:0003170 ! Abnormality of the acetabulum property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `acetabular part of hip bone` (FMA:16579)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008808 name: High iliac wings alt_id: HP:0008778 def: "Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:probinson] synonym: "Narrow, high iliac wings" EXACT [] is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0008812 name: Flattened femoral head def: "An abnormally flattened femoral head." [HPO:probinson] synonym: "FLATTENED FEMORAL HEADS" RELATED [HPO:skoehler] xref: UMLS:C1860601 "Flattened femoral heads" is_a: HP:0003368 ! Abnormality of the femoral head property_value: HP:0040005 "An abnormally flattened `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008817 name: Aplastic pubic bones xref: UMLS:C1848660 "Aplastic pubic bones" is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0008818 name: Large iliac wings def: "Increased size of the ilium ala." [HPO:probinson] is_a: HP:0011867 ! Abnormality of the wing of the ilium property_value: HP:0040005 "Increased size of the `ilium ala` (FMA:42826)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008819 name: Narrow femoral neck def: "An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] synonym: "NARROW FEMORAL NECKS" RELATED [HPO:skoehler] is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0008820 name: Absent ossification of capital femoral epiphysis def: "Lack of ossification of the proximal epiphysis of the femur." [HPO:probinson] comment: The ossification center of the capital femoral epiphysis appears at the end of the first year after birth. synonym: "Absent ossification of femoral capital epiphyses" EXACT [] is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010656 ! Abnormal epiphyseal ossification property_value: HP:0040005 "Lack of ossification of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008821 name: Hypoplastic inferior ilia xref: UMLS:C1837078 "Hypoplastic inferior ilia" is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008822 name: Hypoplastic ischiopubic rami def: "Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium." [HPO:probinson] xref: UMLS:C1855893 "Hypoplastic ischiopubic rami" is_a: HP:0003173 ! Hypoplastic pubic bone is_a: HP:0003175 ! Hypoplastic ischia [Term] id: HP:0008823 name: Hypoplastic inferior pubic rami xref: UMLS:C1853573 "Hypoplastic inferior pubic rami" is_a: HP:0003173 ! Hypoplastic pubic bone [Term] id: HP:0008824 name: Hypoplastic iliac body alt_id: HP:0005740 def: "Underdevelopment of the body of ilium." [HPO:probinson] synonym: "Hypoplastic iliac bodies" EXACT [HPO:skoehler] synonym: "Small iliac bodies" EXACT [HPO:skoehler] xref: UMLS:C1849034 "Hypoplastic iliac body" is_a: HP:0000946 ! Hypoplastic ilia property_value: HP:0040005 "Underdevelopment of the `body of ilium` (FMA:42825)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008826 name: Dislocation of the femoral head def: "Joint dislocation of the femoral head." [HPO:probinson] synonym: "Dislocated femoral heads" EXACT [] xref: UMLS:C1859446 "Dislocated femoral heads" is_a: HP:0003368 ! Abnormality of the femoral head property_value: HP:0040005 "Joint dislocation of the `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008828 name: Delayed proximal femoral epiphyseal ossification def: "Developmental delay of ossification of the proximal epiphysis of the femur." [HPO:probinson] comment: The proximal femoral epiphyseal ossification center normally appears at about age 6 months. synonym: "Delayed ossification of the proximal femoral epiphysis" EXACT [] synonym: "Delayed ossification proximal femoral epiphyses" EXACT [] xref: UMLS:C1855222 "Delayed ossification proximal femoral epiphyses" is_a: HP:0002663 ! Delayed epiphyseal ossification is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head property_value: HP:0040005 "Developmental delay of ossification of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008829 name: Delayed femoral head ossification def: "Delayed ossification of the femoral head." [HPO:probinson] xref: UMLS:C1846446 "Delayed femoral head ossification" is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck property_value: HP:0040005 "Delayed ossification of the `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008830 name: Hypoplastic pubic rami xref: UMLS:C1969176 "Hypoplastic pubic rami" is_a: HP:0003173 ! Hypoplastic pubic bone [Term] id: HP:0008833 name: Irregular acetabular roof xref: UMLS:C1834975 "Irregular acetabular roof" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0008835 name: Multicentric femoral head ossification def: "There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers." [HPO:probinson] comment: Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to. xref: UMLS:C1846447 "Multicentric femoral head ossification" is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008838 name: Stippled calcification proximal humeral epiphyses xref: UMLS:C1857243 "Stippled calcification proximal humeral epiphyses" is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses [Term] id: HP:0008839 name: Hypoplastic pelvis alt_id: HP:0003373 alt_id: HP:0008816 def: "Underdevelopment of the bony pelvis." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic pelvic bones" EXACT [] synonym: "Small pelvis" EXACT [] xref: UMLS:C1834956 "Hypoplastic pelvic bones" xref: UMLS:C1865125 "Hypoplastic pelvis" is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis property_value: HP:0040005 "Underdevelopment of the `bony pelvis` (FMA:16580)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008843 name: Hip osteoarthritis alt_id: HP:0008809 synonym: "Osteoarthritis of hip" EXACT [] xref: MeSH:D015207 "Osteoarthritis, Hip" is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0008845 name: Mesomelic short stature alt_id: HP:0008896 alt_id: HP:0008903 alt_id: HP:0008910 def: "A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)." [HPO:probinson] synonym: "Dwarfism, short limb mesomelic" EXACT [] synonym: "Mesomelic dwarfism" EXACT [] synonym: "Short stature, disproportionate mesomelic" EXACT [] synonym: "Short stature, mesomelic" EXACT [] is_a: HP:0008873 ! Disproportionate short-limb short stature property_value: HP:0040005 "A type of `disproportionate short stature` (HP:0003498) characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008846 name: Severe intrauterine growth retardation alt_id: HP:0008899 alt_id: HP:0008906 def: "Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age." [HPO:probinson] synonym: "Intrauterine growth retardation, severe" EXACT [] synonym: "Severe prenatal growth deficiency" EXACT [] xref: UMLS:C1855843 "Severe intrauterine growth retardation" is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008848 name: Moderately short stature alt_id: HP:0008891 def: "A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex." [DDD:hfirth] synonym: "Moderate short stature" EXACT [] synonym: "SHORT STATURE, MODERATE" RELATED [HPO:skoehler] is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0008850 name: Severe postnatal growth retardation alt_id: HP:0001521 alt_id: HP:0008854 alt_id: HP:0008911 alt_id: HP:0008932 def: "Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms." [DDD:hfirth] synonym: "Marked growth retardation" EXACT [] synonym: "Severe postnatal growth deficiency" EXACT [] synonym: "Severe postnatal growth failure" EXACT [] xref: UMLS:C1854927 "Marked growth retardation" xref: UMLS:C1857641 "Severe postnatal growth deficiency" is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0008855 name: Moderate postnatal growth retardation def: "A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms." [DDD:hfirth] is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0008857 name: Neonatal short-trunk short stature def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth." [HPO:probinson] synonym: "Short-trunk dwarfism identifiable at birth" EXACT [] is_a: HP:0003521 ! Disproportionate short-trunk short stature property_value: HP:0040005 "A type of `disproportionate short stature` (HP:0003498) characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008866 name: Failure to thrive secondary to recurrent infections is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0008872 name: Feeding difficulties in infancy alt_id: HP:0002016 alt_id: HP:0002022 alt_id: HP:0002568 def: "Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [HPO:probinson] xref: UMLS:C0576456 "Poor feeding" is_a: HP:0011968 ! Feeding difficulties [Term] id: HP:0008873 name: Disproportionate short-limb short stature alt_id: HP:0001523 alt_id: HP:0003505 alt_id: HP:0003509 alt_id: HP:0008858 alt_id: HP:0008869 alt_id: HP:0008875 alt_id: HP:0008880 alt_id: HP:0008881 alt_id: HP:0008889 alt_id: HP:0008912 alt_id: HP:0008914 alt_id: HP:0008928 def: "A type of disproportionate short stature characterized by a short limbs but an average-sized trunk." [HPO:probinson] comment: A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs). subset: hposlim_core synonym: "Brachymelic dwarfism" EXACT [] synonym: "Disproportionate short limb dwarfism" EXACT [] synonym: "Dwarfism, short-limbed" EXACT [] synonym: "Micromelic dwarfism" EXACT [] synonym: "SHORT LIMB DWARFISM" RELATED [HPO:skoehler] synonym: "Short limb dwarfism, disproportionate" EXACT [] synonym: "Short stature, disproportionate short limb" EXACT [] synonym: "Short stature, disproportionate short-limb" EXACT [] synonym: "Short-limb dwarfism" EXACT [] synonym: "Short-limbed dwarfism" EXACT [] xref: UMLS:C1843097 "Short-limbed dwarfism" xref: UMLS:C1849286 "Micromelic dwarfism" xref: UMLS:C1851540 "Mild short-limb dwarfism" xref: UMLS:C1860189 "Marked micromelic dwarfism" is_a: HP:0003498 ! Disproportionate short stature property_value: HP:0040005 "A type of `disproportionate short stature` (HP:0003498) characterized by a short limbs but an average-sized trunk." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008883 name: Mild intrauterine growth retardation alt_id: HP:0008861 def: "Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age." [DDD:hfirth] synonym: "Mild prenatal growth deficiency" EXACT [] xref: UMLS:C1840006 "Mild prenatal growth deficiency" is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008887 name: Adipose tissue loss alt_id: HP:0008938 def: "A loss of adipose tissue." [HPO:probinson] is_a: HP:0040063 ! Decreased adipose tissue property_value: HP:0040005 "A loss of `adipose tissue` (FMA:20110)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008890 name: Severe short-limb dwarfism xref: UMLS:C1860105 "Severe short-limb dwarfism" is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008897 name: Postnatal growth retardation alt_id: HP:0008844 alt_id: HP:0008865 alt_id: HP:0008868 alt_id: HP:0008901 alt_id: HP:0008918 def: "Slow or limited growth after birth." [DDD:hfirth] synonym: "Growth retardation as children" EXACT [] synonym: "Postnatal growth deceleration" EXACT [] synonym: "Postnatal growth deficiency" EXACT [] synonym: "Postnatal growth failure" EXACT [] xref: UMLS:C1835197 "Postnatal growth deceleration" is_a: HP:0001510 ! Growth delay [Term] id: HP:0008905 name: Rhizomelia alt_id: HP:0002968 alt_id: HP:0003520 alt_id: HP:0008852 alt_id: HP:0008877 def: "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." [HPO:probinson] subset: hposlim_core synonym: "Rhizomelic dwarfism" EXACT [] synonym: "Rhizomelic limb shortening" EXACT [] synonym: "Rhizomelic short limbs" EXACT [] synonym: "Rhizomelic short stature" EXACT [] synonym: "RHIZOMELIC SHORTENING" EXACT [] synonym: "Short stature, rhizomelic" EXACT [] synonym: "Symmetrical rhizomelic limb shortening" EXACT [] xref: UMLS:C1837079 "Rhizomelic shortening" xref: UMLS:C1856771 "Rhizomelic dwarfism" xref: UMLS:C1866730 "Short stature, rhizomelic" is_a: HP:0008873 ! Disproportionate short-limb short stature is_a: HP:0009826 ! Limb undergrowth [Term] id: HP:0008909 name: Lethal short-limbed short stature alt_id: HP:0003506 synonym: "Lethal micromelic dwarfism" EXACT [] synonym: "Lethal short-limbed dwarfism" EXACT [] xref: UMLS:C1861214 "Lethal micromelic dwarfism" is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008915 name: Childhood-onset truncal obesity alt_id: HP:0008874 def: "Truncal obesity with onset during childhood, defined as between 2 and 10 years of age." [HPO:probinson] synonym: "Truncal obesity apparent in childhood" EXACT [] is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008921 name: Neonatal short-limb short stature alt_id: HP:0001536 alt_id: HP:0008894 alt_id: HP:0008902 alt_id: HP:0008924 def: "A type of short-limbed dwarfism that is manifest beginning in the neonatal period." [HPO:probinson] synonym: "Dwarfism, neonatal short-limbed" EXACT [] synonym: "Neonatal short-limbed dwarfism" EXACT [] synonym: "Short limb dwarfism recognizable at birth" EXACT [] synonym: "Short-limb dwarfism identifiable at birth" EXACT [] synonym: "Short-limb dwarfism identifiable neonatally" EXACT [] synonym: "Short-limbed dwarfism identifiable at birth" EXACT [] is_a: HP:0008873 ! Disproportionate short-limb short stature [Term] id: HP:0008922 name: Childhood-onset short-trunk short stature alt_id: HP:0003522 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood." [HPO:probinson] synonym: "Disproportionate short stature (short trunk), identifiable in childhood" EXACT [] synonym: "Short-trunk dwarfism identifiable during childhood" EXACT [] is_a: HP:0003521 ! Disproportionate short-trunk short stature property_value: HP:0040005 "A type of `disproportionate short stature` (HP:0003498) characterized by a short trunk but a average-sized limbs with onset in childhood." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008929 name: Asymmetric short stature is_a: HP:0004322 ! Short stature [Term] id: HP:0008935 name: Generalized neonatal hypotonia def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature." [HPO:probinson] synonym: "Hypotonia, neonatal, generalized" EXACT [] is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0008936 name: Muscular hypotonia of the trunk alt_id: HP:0002320 def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] synonym: "Axial hypotonia" EXACT [] synonym: "Truncal hypotonia" EXACT [] xref: UMLS:C1853743 "Axial hypotonia" is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008940 name: Generalized lymphadenopathy def: "A generalized form of lymphadenopathy." [HPO:probinson] xref: UMLS:C0476486 "Generalised lymphadenopathy" is_a: HP:0002716 ! Lymphadenopathy property_value: HP:0040005 "A generalized form of `lymphadenopathy` (HP:0002716)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008942 name: Acute rhabdomyolysis def: "An acute form of rhabdomyolysis." [HPO:probinson] synonym: "Rhabdomyolysis, acute" EXACT [] is_a: HP:0003201 ! Rhabdomyolysis property_value: HP:0040005 "An acute form of `rhabdomyolysis` (HP:0003201)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008944 name: Distal lower limb amyotrophy alt_id: HP:0003442 alt_id: HP:0003714 alt_id: HP:0006975 alt_id: HP:0008949 alt_id: HP:0009001 def: "Muscular atrophy of distal leg muscles." [HPO:probinson] comment: Distal lower limb muscle atrophy is commonly due to peripheral neuropathy. synonym: "Lower leg amyotrophy" EXACT [] synonym: "Lower limb atrophy" RELATED [] synonym: "Lower limb muscle hypotrophy" RELATED [] synonym: "Muscle atrophy, lower limb, distal" EXACT [] xref: UMLS:C1845256 "Lower limb muscle hypotrophy" is_a: HP:0003693 ! Distal amyotrophy is_a: HP:0007210 ! Lower limb amyotrophy [Term] id: HP:0008945 name: Loss of ability to walk in early childhood is_a: HP:0006915 ! Inability to walk by childhood/adolescence [Term] id: HP:0008946 name: Pelvic girdle amyotrophy def: "Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle." [HPO:probinson] synonym: "Hip girdle amyotrophy" EXACT [] is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0008947 name: Infantile muscular hypotonia alt_id: HP:0002449 alt_id: HP:0002523 alt_id: HP:0010572 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. synonym: "Hypotonia (infancy)" EXACT [] synonym: "Hypotonia early" EXACT [] synonym: "Hypotonia in infancy" EXACT [] synonym: "Hypotonia, early" EXACT [] xref: UMLS:C1845057 "Hypotonia early" is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008948 name: Proximal upper limb amyotrophy alt_id: HP:0008995 def: "Muscular atrophy affecting proximally located muscles of the arms." [HPO:curators] synonym: "Proximal muscle atrophy in upper limbs" EXACT [] synonym: "Proximal upper limb muscle atrophy" EXACT [] xref: UMLS:C1836768 "Proximal upper limb muscle atrophy" is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008952 name: Shoulder muscle hypoplasia def: "Underdevelopment of muscles of the shoulder." [HPO:probinson] xref: UMLS:C1969001 "Shoulder muscle hypoplasia" is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008953 name: Pectoralis major hypoplasia def: "Underdevelopment of the pectoralis major." [HPO:probinson] comment: The pectoralis major is a thick, fan-shaped muscle of the anterior chest. synonym: "Pectoralis major muscle hypoplasia" EXACT [] xref: UMLS:C1840086 "Pectoralis major muscle hypoplasia" is_a: HP:0011957 ! Abnormality of the pectoral muscle property_value: HP:0040005 "Underdevelopment of the `pectoralis major` (FMA:9627)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008954 name: Intrinsic hand muscle atrophy def: "Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles." [HPO:probinson] is_a: HP:0009130 ! Hand muscle atrophy [Term] id: HP:0008955 name: Progressive distal muscular atrophy def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008956 name: Proximal lower limb amyotrophy alt_id: HP:0003748 alt_id: HP:0008974 def: "Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh." [HPO:probinson] synonym: "Amyotrophy involving the thigh" EXACT [] synonym: "Amyotrophy of the thigh musculature" EXACT [] synonym: "Proximal lower limb muscle atrophy" EXACT [] synonym: "Thigh muscle atrophy" EXACT [] xref: UMLS:C1836767 "Proximal lower limb muscle atrophy" xref: UMLS:C2058268 "thigh muscle atrophy" is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008959 name: Distal upper limb muscle weakness def: "Reduced strength of the distal musculature of the arms." [HPO:probinson] is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0008962 name: Calf muscle hypoplasia def: "Underdevelopment of the muscuklature of the calf." [HPO:probinson] synonym: "Hypoplastic calf muscles" EXACT [] xref: UMLS:C1852618 "Hypoplastic calf muscles" is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008963 name: Tibialis muscle weakness def: "Muscle weakness affecting the tibialis anterior muscle." [HPO:probinson] comment: This is a bundled term which should be made obsolete. is_a: HP:0009053 ! Distal lower limb muscle weakness [Term] id: HP:0008964 name: Nonprogressive muscular atrophy def: "Muscular atrophy that does not display a progression in severity with time." [HPO:curators] is_a: HP:0003202 ! Skeletal muscle atrophy [Term] id: HP:0008967 name: Exercise-induced muscle stiffness alt_id: HP:0003633 def: "A type of muscle stiffness that occurs following physical exertion." [HPO:probinson] synonym: "Muscle stiffness with exercise" EXACT [] synonym: "Muscle stiffness, exercise-induced" EXACT [] xref: UMLS:C1855579 "Exercise-induced muscle stiffness" is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008968 name: Muscle hypertrophy of the lower extremities def: "Muscle hypertrophy primarily affecting the legs." [HPO:curators] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0008969 name: Leg muscle stiffness is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008970 name: Scapulohumeral muscular dystrophy xref: UMLS:C0410192 "Scapulohumeral muscular dystrophy" is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0008972 name: Decreased activity of mitochondrial respiratory chain def: "Decreased activity of the mitochondrial respiratory chain." [HPO:probinson] synonym: "DECREASED ACTIVITIES OF MITOCHONDRIAL-ENCODED RESPIRATORY CHAIN COMPLEXES" RELATED [HPO:skoehler] synonym: "DECREASED ACTIVITY OF MITOCHONDRIAL RESPIRATORY COMPLEXES" RELATED [HPO:skoehler] is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain property_value: HP:0040005 "Decreased activity of the `mitochondrial respiratory chain` (GO:0005746)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008978 name: Necrotizing myopathy is_a: HP:0003198 ! Myopathy [Term] id: HP:0008981 name: Calf muscle hypertrophy alt_id: HP:0003703 alt_id: HP:0009024 def: "Muscle hypertrophy affecting the calf muscles." [HPO:curators] synonym: "Calf hypertrophy" EXACT [] synonym: "Muscular hypertrophy of the calf muscles" EXACT [] xref: UMLS:C1842554 "Calf muscle hypertrophy" xref: UMLS:C1843057 "Calf hypertrophy" is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0008984 name: Neck muscle hypoplasia def: "Underdevelopment of muscles of the neck." [HPO:curators] xref: UMLS:C1969000 "Neck muscle hypoplasia" is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0008985 name: Increased intramuscular fat def: "An abnormal increase in the amount of intramuscular fat tissue." [HPO:curators] xref: UMLS:C1835389 "Increased intramuscular fat" is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008986 name: Agenesis of the diaphragm def: "Congenital lack, i.e., aplasia of the diaphragm." [HPO:probinson] synonym: "Agenesis of diaphragm" RELATED [] is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm property_value: HP:0040005 "Congenital lack, i.e., `aplasia` (MPATH:58) of the `diaphragm` (FMA:13295)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0008988 name: Pelvic girdle muscle atrophy alt_id: HP:0008992 def: "Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles)." [HPO:curators] synonym: "Pelvic girdle muscle wasting" EXACT [] xref: UMLS:C0240679 "Pelvic girdle muscle atrophy" is_a: HP:0001445 ! Abnormality of the hip-girdle musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0008991 name: Exercise-induced leg cramps def: "Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion." [HPO:probinson] is_a: HP:0003710 ! Exercise-induced muscle cramps [Term] id: HP:0008993 name: Increased intraabdominal fat def: "An abnormal increase in the amount of intraabdominal fat tissue." [HPO:curators] xref: UMLS:C1835390 "Increased intraabdominal fat" is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008994 name: Proximal muscle weakness in lower limbs alt_id: HP:0002455 alt_id: HP:0008941 def: "A lack of strength of the proximal muscles of the legs." [HPO:probinson] synonym: "Muscle weakness, proximal, lower limbs" EXACT [] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003690 ! Limb muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008997 name: Proximal muscle weakness in upper limbs def: "A lack of strength of the proximal muscles of the arms." [HPO:curators] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003484 ! Upper limb muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008998 name: Pectoralis hypoplasia def: "Underdevelopment of the pectoral muscle." [HPO:probinson] synonym: "Hypoplastic pectoral muscle" EXACT [] xref: UMLS:C1846477 "Pectoralis hypoplasia" is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0009002 name: Loss of truncal subcutaneous adipose tissue alt_id: HP:0008989 def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk." [HPO:probinson] synonym: "Loss of subcutaneous truncal adipose tissue" EXACT [] synonym: "Loss of truncal adipose tissue" EXACT [] is_a: HP:0008887 ! Adipose tissue loss property_value: HP:0040005 "Loss (reduction of previously present) of `subcutaneous adipose tissue` (FMA:74315) in the region of the `trunk` (FMA:7181)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0009003 name: Increased subcutaneous truncal adipose tissue def: "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body." [HPO:curators] xref: UMLS:C1837781 "Increased subcutaneous truncal adipose tissue" is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0009004 name: Hypoplasia of the musculature alt_id: HP:0009034 def: "Underdevelopment of the musculature." [HPO:sdoelken] synonym: "Muscle hypoplasia" EXACT [] synonym: "Poorly developed skeletal musculature" EXACT [] xref: UMLS:C0240414 "MUSCLE HYPOPLASIA" is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature [Term] id: HP:0009005 name: Weakness of the intrinsic hand muscles is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0009007 name: Hypoplastic biceps def: "Underdevelopment of the biceps muscle." [HPO:curators] xref: UMLS:C1862499 "Hypoplastic biceps" is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0030239 ! Hypoplasia of the upper arm musculature [Term] id: HP:0009011 name: Hypoplasia of serratus anterior muscle def: "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula." [HPO:curators] is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009013 name: Congenital absence of gluteal muscles is_a: HP:0001443 ! Abnormality of the gluteal musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0009016 name: Upper limb muscle hypoplasia def: "Underdevelopment of muscles of the arm." [HPO:curators] xref: UMLS:C1846478 "Upper limb muscle hypoplasia" is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs is_a: HP:0009004 ! Hypoplasia of the musculature [Term] id: HP:0009017 name: Loss of gluteal subcutaneous adipose tissue def: "Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region." [HPO:probinson] is_a: HP:0008887 ! Adipose tissue loss property_value: HP:0040005 "Loss (reduction of previously present) of `subcutaneous adipose tissue` (FMA:74315) in the `gluteal region` (FMA:25245)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0009019 name: Progressive loss of facial adipose tissue synonym: "Loss of subcutaneous adipose tissue from face, progressive" EXACT [] is_a: HP:0000292 ! Loss of facial adipose tissue [Term] id: HP:0009020 name: Exercise-induced muscle fatigue def: "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators] xref: UMLS:C1855580 "Exercise-induced muscle fatigue" is_a: HP:0003750 ! Increased muscle fatiguability [Term] id: HP:0009023 name: Abdominal wall muscle weakness alt_id: HP:0001546 alt_id: HP:0004873 def: "Decreased strength of the abdominal musculature." [HPO:probinson] comment: This may be associated with protuberance of the abdomen. synonym: "Lax abdominal musculature" EXACT [] xref: UMLS:C1855312 "Lax abdominal musculature" is_a: HP:0001324 ! Muscle weakness is_a: HP:0010991 ! Abnormality of the abdominal musculature property_value: HP:0040005 "`Decreased strength` (PATO:0001779) of the `abdominal musculature` (FMA:86917)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0009025 name: Increased connective tissue def: "The presence of an abnormally increased amount of connective tissue." [HPO:curators] xref: UMLS:C1866021 "Increased connective tissue" is_a: HP:0003549 ! Abnormality of connective tissue [Term] id: HP:0009026 name: Hypoplasia of latissimus dorsi muscle def: "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula." [HPO:curators] is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009027 name: Foot dorsiflexor weakness alt_id: HP:0003377 def: "Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles." [HPO:probinson] comment: Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal. synonym: "Foot drop" EXACT [] synonym: "Foot extensor weakness" EXACT [] synonym: "Footdrop" EXACT [] xref: UMLS:C0085684 "Foot-drop" xref: UMLS:C1866141 "Foot dorsiflexor weakness" is_a: HP:0001436 ! Abnormality of the foot musculature is_a: HP:0008994 ! Proximal muscle weakness in lower limbs [Term] id: HP:0009028 name: Generalized weakness of limb muscles def: "Generalized weakness of the muscles of the arms and legs." [HPO:curators] is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0009031 name: Amyotrophy of ankle musculature def: "Atrophy of the muscles of the ankle." [HPO:probinson] is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0009037 name: Segmental spinal muscular atrophy xref: UMLS:C1866774 "SPINAL MUSCULAR ATROPHY, SEGMENTAL" is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009042 name: Marked muscular hypertrophy def: "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators] xref: UMLS:C1846013 "Marked muscular hypertrophy" is_a: HP:0003712 ! Skeletal muscle hypertrophy [Term] id: HP:0009044 name: obsolete Hypoplasia of deltoid muscle alt_id: HP:0009039 def: "Underdevelopment of the deltoid muscle." [HPO:curators] synonym: "Deltoid muscle hypoplasia" EXACT [] xref: UMLS:C1868170 "Deltoid muscle hypoplasia" is_obsolete: true replaced_by: HP:0030241 [Term] id: HP:0009045 name: Exercise-induced rhabdomyolysis def: "Rhabdomyolysis induced by exercise." [HPO:probinson] synonym: "Rhabdomyolysis with exercise" EXACT [] is_a: HP:0003201 ! Rhabdomyolysis property_value: HP:0040005 "`Rhabdomyolysis` (HP:0003201) induced by exercise." xsd:string {xref="HPO:probinson"} [Term] id: HP:0009046 name: Difficulty running def: "Reduced ability to run." [HPO:probinson] is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0009049 name: Peroneal muscle atrophy alt_id: HP:0008939 alt_id: HP:0008982 def: "Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus)' (FMA:22539), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius." [HPO:probinson] comment: The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. synonym: "Peroneal atrophy" EXACT [] is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0011805 ! Abnormality of muscle morphology property_value: HP:0040005 "Atrophy of the peroneous muscles, `peroneus longus (also known as Fibularis longus)' (FMA:22539), `Peroneus brevis (also known as fibularis brevis` (FMA:22540), and `Peroneus tertius (also known as fibularis tertius` (FMA:22538)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0009050 name: Quadriceps muscle atrophy def: "Muscular atrophy involving the quadriceps muscle." [HPO:curators] xref: UMLS:C1842818 "Quadriceps muscle atrophy" is_a: HP:0008956 ! Proximal lower limb amyotrophy [Term] id: HP:0009051 name: Increased muscle glycogen content def: "An increased amount of glycogen in muscle tissue." [HPO:probinson] xref: UMLS:C1968729 "Increased muscle glycogen content" is_a: HP:0012269 ! Abnormal muscle glycogen content [Term] id: HP:0009053 name: Distal lower limb muscle weakness alt_id: HP:0003485 alt_id: HP:0009035 def: "Reduced strength of the distal musculature of the legs." [HPO:probinson] comment: This finding can be due to peripheral neuropathy. synonym: "Distal muscle weakness in lower limbs" EXACT [] synonym: "Muscle weakness, lower limb, distal" EXACT [] is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0009054 name: Scapuloperoneal myopathy xref: UMLS:C0751337 "SCAPULOPERONEAL MYOPATHY" is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009055 name: Generalized limb muscle atrophy alt_id: HP:0003788 def: "Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations." [HPO:probinson] synonym: "Generalized muscle atrophy, proximal and distal" EXACT [] xref: UMLS:C1838114 "Generalized limb muscle atrophy" is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0009056 name: Loss of subcutaneous adipose tissue from upper limbs is_a: HP:0003635 ! Loss of subcutaneous adipose tissue in limbs [Term] id: HP:0009058 name: Increased muscle lipid content alt_id: HP:0100949 def: "An abnormal accumulation of lipids in skeletal muscle." [HPO:probinson, pmid:20691590] comment: Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy. synonym: "Fat accumulation in muscle fibers" EXACT [] synonym: "Fat deposits in muscle fibers" EXACT [] synonym: "Lipid accumulation in skeletal muscle" EXACT [] synonym: "Muscle lipidosis" EXACT [] synonym: "Skeletal muscle lipid accumulation" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0009059 name: Congenital generalized lipodystrophy xref: UMLS:C0221032 "Generalised lipodystrophy" is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009060 name: Scapular muscle atrophy def: "Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle." [HPO:curators] comment: Need to add new UBERON term for scapula muscle is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009062 name: Infantile axial hypotonia def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy." [HPO:curators] synonym: "Hypotonia, axial, in infancy" EXACT [] is_a: HP:0008936 ! Muscular hypotonia of the trunk is_a: HP:0008947 ! Infantile muscular hypotonia [Term] id: HP:0009063 name: Progressive distal muscle weakness alt_id: HP:0008933 alt_id: HP:0009022 alt_id: HP:0009057 def: "Progressively reduced strength of the distal musculature." [HPO:curators] synonym: "Muscle weakness, distal, progressive" EXACT [] synonym: "Muscle weakness, progressive, distal" EXACT [] is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009064 name: Generalized lipodystrophy alt_id: HP:0008966 def: "Generalized degenerative changes of the fat tissue." [HPO:curators] synonym: "Lipodystrophy, generalized" EXACT [] is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009067 name: Progressive spinal muscular atrophy def: "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] xref: UMLS:C0917981 "Progressive spinal muscular atrophy" is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009069 name: Lethal infantile mitochondrial myopathy xref: UMLS:C1838876 "MYOPATHY, MITOCHONDRIAL, LETHAL INFANTILE" is_a: HP:0003737 ! Mitochondrial myopathy [Term] id: HP:0009071 name: Inflammatory myopathy xref: UMLS:C0027121 "Inflammatory Myopathy" is_a: HP:0003198 ! Myopathy [Term] id: HP:0009072 name: Decreased Achilles reflex def: "Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson] synonym: "Hyporeflexia at ankle joints" EXACT [] is_a: HP:0002600 ! Hyporeflexia of lower limbs [Term] id: HP:0009073 name: Progressive proximal muscle weakness alt_id: HP:0008965 def: "Lack of strength of the proximal muscles that becomes progressively more severe." [HPO:probinson] comment: Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ. synonym: "Muscle weakness, progressive, proximal" EXACT [] is_a: HP:0003323 ! Progressive muscle weakness is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0009077 name: Weakness of long finger extensor muscles is_a: HP:0030237 ! Hand muscle weakness [Term] id: HP:0009084 name: Midline notch of upper alveolar ridge is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009085 name: Alveolar ridge overgrowth alt_id: HP:0009078 alt_id: HP:0009083 def: "Increased width of the alveolar ridges." [pmid:19125428] comment: This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding. subset: hposlim_core synonym: "Hypertrophied alveolar ridge" RELATED [] synonym: "Overgrowth of alveolar ridge" EXACT [] synonym: "Thick alveolar ridges" EXACT [] synonym: "Thickened alveolar ridges" EXACT [] xref: UMLS:C1850042 "Thickened alveolar ridges" is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009087 name: Posteriorly placed tongue is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0009088 name: Speech articulation difficulties def: "Impairment in the physical production of speech sounds." [HPO:probinson] comment: Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities). xref: UMLS:C1865313 "Speech articulation difficulties" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0009090 name: Facial diplegic appearance xref: UMLS:C0282631 "Facial appearance" is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0009092 name: Progressive alveolar ridge hypertropy xref: UMLS:C1854934 "Progressive alveolar ridge hypertropy" is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009094 name: Cleft lower alveolar ridge is_a: HP:0010289 ! Alveolar ridge cleft [Term] id: HP:0009098 name: Chronic oral candidiasis is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0009099 name: Median cleft palate def: "Cleft palate of the midline of the palate." [HPO:probinson] synonym: "Midline cleft palate" EXACT [] xref: UMLS:C1850968 "Median cleft palate" is_a: HP:0000175 ! Cleft palate [Term] id: HP:0009100 name: Thick anterior alveolar ridges xref: UMLS:C1859377 "Thick anterior alveolar ridges" is_a: HP:0009085 ! Alveolar ridge overgrowth [Term] id: HP:0009101 name: Submucous cleft lip def: "A cleft of the lip with overlying mucous membrane." [HPO:probinson] comment: Submucous cleft lip may lead to increased nasal resonance. xref: UMLS:C1839277 "Submucous cleft lip" is_a: HP:0000204 ! Cleft upper lip [Term] id: HP:0009102 name: Anterior open-bite malocclusion def: "A type of malocclusion in which there is a gap between the anterior teeth (incisors)." [HPO:ibailleulforestier] xref: UMLS:C1837862 "Anterior openbite malocclusion" is_a: HP:0000689 ! Dental malocclusion [Term] id: HP:0009103 name: Aplasia/Hypoplasia involving the pelvis is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: peter creation_date: 2008-04-04T08:40:00Z [Term] id: HP:0009104 name: Aplasia/Hypoplasia of the pubic bone alt_id: HP:0008841 def: "Absence or underdevelopment of the pubic bone." [HPO:probinson] synonym: "Hypoplastic/aplastic pubic bones" EXACT [] is_a: HP:0003172 ! Abnormality of the pubic bone is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis created_by: peter creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009105 name: Abnormal ossification of the pubic bone def: "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis." [HPO:probinson] is_a: HP:0003172 ! Abnormality of the pubic bone is_a: HP:0009106 ! Abnormal pelvis bone ossification property_value: HP:0040005 "Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the `pubis` (FMA:16595)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009106 name: Abnormal pelvis bone ossification def: "An abnormality of the formation and mineralization of any bone of the bony pelvis." [HPO:probinson] synonym: "Abnormal ossification involving the bones of the pelvis" EXACT [] is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology is_a: HP:0003336 ! Abnormal enchondral ossification property_value: HP:0040005 "An abnormality of the formation and mineralization of any bone of the `bony pelvis` (FMA:16580)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009107 name: Abnormal ossification involving the femoral head and neck is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0003366 ! Abnormality of the femoral neck or head region created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009108 name: Aplasia/Hypoplasia involving the femoral head and neck is_a: HP:0003366 ! Abnormality of the femoral neck or head region is_a: HP:0005613 ! Aplasia/hypoplasia of the femur is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis created_by: peter creation_date: 2008-04-04T08:44:00Z [Term] id: HP:0009109 name: Denervation of the diaphragm def: "Interruption of the innervation of the diaphragm." [HPO:probinson] is_a: HP:0000775 ! Abnormality of the diaphragm property_value: HP:0040005 "Interruption of the innervation of the `diaphragm` (FMA:13295)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-05T10:41:00Z [Term] id: HP:0009110 name: Diaphragmatic eventration alt_id: HP:0009114 def: "A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development." [HPO:curators] synonym: "Eventration of the diaphragm" RELATED [] xref: MeSH:D003965 "Diaphragmatic Eventration" xref: UMLS:C0011981 "Diaphragmatic Eventration" is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:42:00Z [Term] id: HP:0009112 name: Absent left hemidiaphragm def: "Congenital absence of the left half of the diaphragm." [HPO:probinson] is_a: HP:0040048 ! Aplasia of the left hemidiaphragm created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009113 name: Diaphragmatic weakness alt_id: HP:0005953 alt_id: HP:0009111 def: "A decrease in the strength of the diaphragm." [HPO:probinson, pmid:2509822] comment: Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination. synonym: "Diaphragmatic paraparesis" EXACT [] synonym: "Diminished diaphragmatic motion" RELATED [] xref: UMLS:C0521532 "Diaphragmatic weakness" is_a: HP:0000775 ! Abnormality of the diaphragm is_a: HP:0001324 ! Muscle weakness created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009115 name: Aplasia/hypoplasia involving the skeleton def: "Absence (due to failure to form) or underdevelopment of one or more components of the skeleton." [HPO:probinson] is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: peter creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009116 name: Aplasia/Hypoplasia involving bones of the skull is_a: HP:0000929 ! Abnormality of the skull is_a: HP:0009122 ! Aplasia/hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009117 name: Aplasia/Hypoplasia of the maxilla def: "Absence or underdevelopment of the Maxilla." [HPO:probinson] is_a: HP:0000326 ! Abnormality of the maxilla is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull property_value: HP:0040005 "Absence or underdevelopment of the `Maxilla` (FMA:9711)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009118 name: Aplasia/Hypoplasia of the mandible def: "Absence or underdevelopment of the mandible." [HPO:curators] is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009119 name: Aplasia/Hypoplasia of the frontal sinuses def: "Absence or underdevelopment of frontal sinus." [HPO:probinson] is_a: HP:0002687 ! Abnormality of the frontal sinuses is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses property_value: HP:0040005 "Absence or underdevelopment of `frontal sinus` (FMA:57417)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-04-05T11:00:00Z [Term] id: HP:0009120 name: Aplasia/Hypoplasia involving the sinuses def: "Absence or underdevelopment of a cranial sinus or sinuses." [HPO:curators] is_a: HP:0000245 ! Abnormality of the sinuses is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T11:01:00Z [Term] id: HP:0009121 name: Abnormal axial skeleton morphology def: "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum." [HPO:probinson] synonym: "Abnormality of the axial skeleton" RELATED [] is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: peter creation_date: 2008-04-05T11:16:00Z [Term] id: HP:0009122 name: Aplasia/hypoplasia affecting bones of the axial skeleton def: "Absence (due to failure to form) or underdevelopment of bones of the axial skeleton." [HPO:probinson] is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton is_a: HP:0009121 ! Abnormal axial skeleton morphology created_by: peter creation_date: 2008-04-05T11:29:00Z [Term] id: HP:0009123 name: Mixed hypo- and hyperpigmentation of the skin is_a: HP:0000953 ! Hyperpigmentation of the skin is_a: HP:0001010 ! Hypopigmentation of the skin created_by: peter creation_date: 2008-04-05T11:36:00Z [Term] id: HP:0009124 name: Abnormality of adipose tissue def: "An abnormality of adipose tissue20110), which is loose connective tissue composed of adipocytes." [HPO:curators] synonym: "Abnormality of fatty tissue" EXACT [] is_a: HP:0003549 ! Abnormality of connective tissue property_value: HP:0040005 "An abnormality of `adipose tissue` (FMA)20110), which is loose connective tissue composed of adipocytes." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009125 name: Lipodystrophy def: "Degenerative changes of the fat tissue." [HPO:curators] xref: MeSH:D008060 "Lipodystrophy" xref: UMLS:C0023787 "Lipodystrophy" is_a: HP:0009124 ! Abnormality of adipose tissue created_by: peter creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009126 name: Increased adipose tissue def: "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [HPO:curators] is_a: HP:0009025 ! Increased connective tissue is_a: HP:0009124 ! Abnormality of adipose tissue created_by: peter creation_date: 2008-04-05T11:43:00Z [Term] id: HP:0009127 name: Abnormality of the musculature of the limbs is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0040064 ! Abnormality of limbs created_by: peter creation_date: 2008-04-07T02:00:00Z [Term] id: HP:0009128 name: Aplasia/Hypoplasia involving the musculature of the extremities is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T02:01:00Z [Term] id: HP:0009129 name: Upper limb amyotrophy alt_id: HP:0003471 def: "Muscular atrophy involving the muscles of the upper limbs." [HPO:probinson] synonym: "Amyotrophy involving the upper limbs" EXACT [] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003202 ! Skeletal muscle atrophy created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009130 name: Hand muscle atrophy alt_id: HP:0006967 alt_id: HP:0008934 alt_id: HP:0008951 alt_id: HP:0009038 def: "Muscular atrophy involving the muscles of the hand." [HPO:curators] comment: This term can be used to described bilateral amyotrophy of the musculature of the hand. synonym: "Amyotrophy involving the musculature of the hand" EXACT [] synonym: "Amyotrophy of hand muscles" EXACT [] synonym: "Hand muscle wasting" EXACT [] synonym: "Hand muscle wasting, bilateral" EXACT [] xref: UMLS:C0239830 "Hand muscle atrophy" is_a: HP:0001421 ! Abnormality of the musculature of the hand is_a: HP:0007149 ! Distal upper limb amyotrophy created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009131 name: Abnormality of the musculature of the thorax def: "A disease or lesion affecting the muscles of the thorax." [HPO:curators] is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2008-04-07T05:06:00Z [Term] id: HP:0009132 name: Abnormal tarsal bone mineral density def: "This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone." [HPO:probinson] synonym: "Abnormality of bone mineral density involving tarsal bones" EXACT [] is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0004348 ! Abnormality of bone mineral density created_by: peter creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0009134 name: Osteolysis involving bones of the feet is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs created_by: peter creation_date: 2008-04-17T02:43:00Z [Term] id: HP:0009136 name: Duplication involving bones of the feet is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0040069 ! Abnormality of lower limb bone created_by: peter creation_date: 2008-04-17T02:45:00Z [Term] id: HP:0009138 name: Synostosis involving bones of the lower limbs def: "An abnormal union between bones or parts of bones lower limbs." [HPO:sdoelken] is_a: HP:0040069 ! Abnormality of lower limb bone is_a: HP:0100240 ! Synostosis of joints is_a: HP:0100491 ! Abnormality of lower limb joint created_by: peter creation_date: 2008-04-17T02:51:00Z [Term] id: HP:0009139 name: Osteolysis involving bones of the lower limbs is_a: HP:0002797 ! Osteolysis is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2008-04-17T02:52:00Z [Term] id: HP:0009140 name: Synostosis involving bones of the feet is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-04-17T02:54:00Z [Term] id: HP:0009141 name: Depletion of mitochondrial DNA in muscle tissue alt_id: HP:0009070 synonym: "Depletion of mitochondrial dna in skeletal muscle tissue" EXACT [] is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction created_by: peter creation_date: 2008-05-02T12:00:00Z [Term] id: HP:0009142 name: Duplication of bones involving the upper extremities is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2008-05-02T01:23:00Z [Term] id: HP:0009144 name: Supernumerary bones of the axial skeleton is_a: HP:0009121 ! Abnormal axial skeleton morphology created_by: peter creation_date: 2008-05-02T01:29:00Z [Term] id: HP:0009145 name: Abnormality of cerebral artery def: "An anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery." [HPO:probinson] synonym: "Abnormality of the cerebral arteries" EXACT [] is_a: HP:0011004 ! Abnormality of the systemic arterial tree is_a: HP:0100659 ! Abnormality of the cerebral vasculature property_value: HP:0040005 "An anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the `anterior cerebral artery` (FMA:50028), the `middle cerebral artery` (FMA:50079), and the `posterior cerebral artery` (FMA:50583)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2008-05-02T01:39:00Z [Term] id: HP:0009147 name: Enlarged epiphysis of the distal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:39:32Z [Term] id: HP:0009148 name: Small epiphysis of the distal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:40:08Z [Term] id: HP:0009149 name: Triangular epiphysis of the distal phalanx of the 5th finger alt_id: HP:0009137 def: "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 5th finger" EXACT [] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:40:48Z [Term] id: HP:0009150 name: Abnormality of the proximal phalanx of the 5th finger def: "Abnormality of the proximal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger created_by: peter creation_date: 2008-12-22T02:00:20Z [Term] id: HP:0009152 name: Abnormality of the epiphyses of the 5th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [HPO:sdoelken] is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: peter creation_date: 2008-12-22T02:07:27Z [Term] id: HP:0009153 name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger def: "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curator] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:47:42Z [Term] id: HP:0009154 name: Triangular epiphysis of the proximal phalanx of the 5th finger alt_id: HP:0009156 def: "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 5th finger" EXACT [] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009155 name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Angel-shaped epiphysis of the proximal phalanx of the 5th finger" RELATED [] synonym: "Cone-shaped epiphysis of the proximal phalanx of the little finger" RELATED [] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009157 name: Ivory epiphysis of the proximal phalanx of the 5th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Ivory epiphysis of the proximal phalanx of the little finger" RELATED [] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009158 name: Enlarged epiphysis of the proximal phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009159 name: Small epiphysis of the proximal phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009160 name: Absent epiphysis of the proximal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009161 name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger alt_id: HP:0006242 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent/hypoplastic middle phalanx of 5th finger" EXACT [] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: peter creation_date: 2008-12-22T05:55:56Z [Term] id: HP:0009162 name: Absent middle phalanx of 5th finger alt_id: HP:0005774 def: "Absence of the middle phalanx of the little (5th) finger." [HPO:curators] synonym: "Aplasia of the middle phalanx of the 5th finger" EXACT [] is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: peter creation_date: 2008-12-22T06:08:40Z [Term] id: HP:0009163 name: obsolete Abnormal form of the 5th finger def: "Abnormal form of the 5th finger." [HPO:curators] is_obsolete: true consider: HP:0004207 created_by: peter creation_date: 2008-12-22T06:17:30Z [Term] id: HP:0009164 name: Abnormal calcification of the carpal bones alt_id: HP:0006154 synonym: "Carpal calcifications" EXACT [] xref: UMLS:C1968592 "Carpal calcifications" is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0006257 ! Abnormality of carpal bone ossification is_a: HP:0010660 ! Abnormal hand bone ossification is_a: HP:0010766 ! Ectopic calcification created_by: peter creation_date: 2008-12-22T06:53:39Z [Term] id: HP:0009165 name: Stippling of the epiphysis of the distal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-29T02:07:42Z [Term] id: HP:0009166 name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-29T02:14:33Z [Term] id: HP:0009167 name: Irregular epiphysis of the distal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-29T02:18:06Z [Term] id: HP:0009168 name: Bullet-shaped middle phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected." [HPO:curators] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: peter creation_date: 2008-12-29T02:44:53Z [Term] id: HP:0009169 name: Broad middle phalanx of the 5th finger def: "Increased width of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Wide middle phalanx of the 5th finger" EXACT [] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009844 ! Broad middle phalanx of finger created_by: peter creation_date: 2008-12-29T02:49:04Z [Term] id: HP:0009170 name: Osteolytic defects of the middle phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: peter creation_date: 2008-12-29T02:51:32Z [Term] id: HP:0009171 name: Triangular epiphyses of the metacarpals def: "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010587 ! Triangular epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009172 name: Abnormality of the phalanges of the 4th finger alt_id: HP:0004191 def: "Abnormality of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Abnormality of the phalanges of the ring finger" EXACT [] is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-01-05T04:18:24Z [Term] id: HP:0009173 name: Curved middle phalanx of the 5th finger def: "Curved appearance of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: peter creation_date: 2008-12-29T03:05:04Z [Term] id: HP:0009174 name: Abnormality of the epiphyses of the 4th finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [HPO:curators] is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-05T04:23:43Z [Term] id: HP:0009175 name: Patchy sclerosis of the middle phalanx of the 5th finger def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100907 ! Sclerosis of the middle phalanx of the 5th finger created_by: peter creation_date: 2008-12-29T03:10:34Z [Term] id: HP:0009177 name: Proximal/middle symphalangism of 5th finger alt_id: HP:0005835 alt_id: HP:0006025 alt_id: HP:0009235 def: "Fusion of the proximal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Fifth finger symphalangism" EXACT [] synonym: "Proximal 5th finger symphalangism" EXACT [] synonym: "Proximal fifth finger symphalangism" EXACT [] synonym: "Symphalangism of the proximal and middle phalanges of the 5th finger" EXACT [] xref: UMLS:C1836212 "Fifth finger symphalangism" is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger created_by: peter creation_date: 2008-12-29T03:17:08Z [Term] id: HP:0009178 name: Symphalangism of middle phalanx of 5th finger def: "Fusion of the middle phalanx of the 5th finger with another bone." [HPO:curator] is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: peter creation_date: 2008-12-29T03:17:43Z [Term] id: HP:0009179 name: Deviation of the 5th finger alt_id: HP:0006036 def: "Displacement of the 5th finger from its normal position." [HPO:sdoelken] synonym: "Laterally displaced fifth finger" EXACT [] is_a: HP:0004097 ! Deviation of finger is_a: HP:0004207 ! Abnormality of the 5th finger created_by: peter creation_date: 2008-12-29T03:29:20Z [Term] id: HP:0009180 name: Ulnar deviation of the 5th finger def: "Displacement of the 5th finger towards the ulnar side." [HPO:sdoelken] is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009465 ! Ulnar deviation of finger created_by: peter creation_date: 2008-12-29T03:30:05Z [Term] id: HP:0009182 name: Triangular shaped middle phalanx of the 5th finger def: "Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: peter creation_date: 2008-12-29T04:05:33Z [Term] id: HP:0009183 name: Joint contracture of the 5th finger alt_id: HP:0001184 def: "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:sdoelken] synonym: "Fifth finger camptodactyly" EXACT [] xref: UMLS:C1865702 "Fifth finger camptodactyly" is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0012785 ! Flexion contracture of finger created_by: peter creation_date: 2008-12-29T04:11:30Z [Term] id: HP:0009184 name: Contracture of the distal interphalangeal joint of the 5th finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:probinson] is_a: HP:0009183 ! Joint contracture of the 5th finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joints of the fingers created_by: peter creation_date: 2008-12-29T04:16:15Z [Term] id: HP:0009185 name: Contracture of the proximal interphalangeal joint of the 5th finger alt_id: HP:0005047 alt_id: HP:0006062 def: "Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] synonym: "5th finger camptodactyly" EXACT [] is_a: HP:0009183 ! Joint contracture of the 5th finger is_a: HP:0100490 ! Camptodactyly of finger created_by: peter creation_date: 2008-12-29T04:16:58Z [Term] id: HP:0009186 name: Contracture of the metacarpophalangeal joint of the 5th finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curator] is_a: HP:0009183 ! Joint contracture of the 5th finger created_by: peter creation_date: 2008-12-29T04:18:00Z [Term] id: HP:0009187 name: Bracket epiphysis of the distal phalanx of the 5th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2008-12-30T12:07:32Z [Term] id: HP:0009188 name: Pseudoepiphysis of the distal phalanx of the 5th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2008-12-30T12:28:19Z [Term] id: HP:0009189 name: Fragmentation of the metacarpal epiphyses def: "Fragmented appearance of the epiphyses of the metacarpals." [HPO:curators] is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009190 name: Irregular epiphyses of the metacarpals def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [HPO:curators] is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009191 name: Ivory epiphyses of the metacarpals def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010583 ! Ivory epiphyses is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009192 name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:57:28Z [Term] id: HP:0009193 name: Pseudoepiphyses of the metacarpals alt_id: HP:0006091 alt_id: HP:0006164 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [HPO:doelkens] synonym: "Accessory proximal metacarpal ossification centers" EXACT [] synonym: "Metacarpal pseudoepiphyses" EXACT [] xref: UMLS:C1860253 "Accessory proximal metacarpal ossification centers" is_a: HP:0004288 ! Pseudoepiphyses of hand bones is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009194 name: Small epiphyses of the metacarpals def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010585 ! Small epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009195 name: Epiphyseal stippling of the metacarpals def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [HPO:probinson] synonym: "Stippling of the epiphyses of the metacarpals" EXACT [] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0010660 ! Abnormal hand bone ossification created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009196 name: Absent metacarpal epiphyses alt_id: HP:0006013 def: "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals." [HPO:curators] synonym: "Absent metacarpal ossification center" EXACT [] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010577 ! Absent epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009197 name: Bracket epiphysis of the proximal phalanx of the 5th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:05:01Z [Term] id: HP:0009198 name: Abnormality of the epiphysis of the distal phalanx of the 5th finger alt_id: HP:0004228 def: "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] synonym: "Abnormality of the epiphysis of the terminal phalanx of the little finger" EXACT [] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-05T04:41:32Z [Term] id: HP:0009199 name: Irregular epiphysis of the proximal phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:09:06Z [Term] id: HP:0009200 name: Pseudoepiphysis of the proximal phalanx of the 5th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:10:13Z [Term] id: HP:0009201 name: Stippling of the epiphysis of the proximal phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:11:42Z [Term] id: HP:0009202 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:13:41Z [Term] id: HP:0009203 name: Absent epiphysis of the middle phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009204 name: Bracket epiphysis of the middle phalanx of the 5th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009205 name: Cone-shaped epiphysis of the middle phalanx of the 5th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009206 name: Enlarged epiphysis of the middle phalanx of the 5th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009207 name: Fragmentation of the epiphysis of the middle phalanx of the 5th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009208 name: Irregular epiphysis of the middle phalanx of the 5th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009209 name: Ivory epiphysis of the middle phalanx of the 5th finger def: "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009210 name: Pseudoepiphysis of the middle phalanx of the 5th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009211 name: Small epiphysis of the middle phalanx of the 5th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009212 name: Stippling of the epiphysis of the middle phalanx of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of the 5th finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009213 name: Triangular epiphysis of the middle phalanx of the 5th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 5th finger" EXACT [] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009214 name: Absent epiphysis of the middle phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009215 name: Bracket epiphysis of the middle phalanx of the 4th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009216 name: Cone-shaped epiphysis of the middle phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009217 name: Enlarged epiphysis of the middle phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009218 name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009219 name: Irregular epiphysis of the middle phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009220 name: Ivory epiphysis of the middle phalanx of the 4th finger def: "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009221 name: Pseudoepiphysis of the middle phalanx of the 4th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009222 name: Small epiphysis of the middle phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009223 name: Stippling of the epiphysis of the middle phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009224 name: Triangular epiphysis of the middle phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 4th finger" EXACT [] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009225 name: Aplasia of the proximal phalanx of the 5th finger def: "Absence of the proximal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:00:33Z [Term] id: HP:0009226 name: Short proximal phalanx of the 5th finger def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the fifth finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 5th finger" EXACT [] synonym: "Short proximal phalanx of the fifth finger" EXACT [] is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009237 ! Short 5th finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: HP:0040005 "Absence or underdevelopment (hypoplasia) of the `proximal phalanx of the fifth finger` (FMA:23922)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-05T06:01:34Z [Term] id: HP:0009227 name: Broad proximal phalanx of the 5th finger def: "Increased width of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Wide proximal phalanx of the 5th finger" EXACT [] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009228 name: Bullet-shaped proximal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected." [HPO:curators] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009229 name: Curved proximal phalanx of the 5th finger def: "Curved appearance of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009230 name: Osteolytic defects of the proximal phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009231 name: Patchy sclerosis of the proximal phalanx of the 5th finger def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100911 ! Sclerosis of the proximal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009232 name: Symphalangism affecting the proximal phalanx of the 5th finger def: "Fusion of the proximal phalanx of the 5th finger with another bone." [HPO:curators] is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009233 name: Triangular shaped proximal phalanx of the 5th finger def: "Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009234 name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger is_a: HP:0009708 ! Synostosis involving the 5th metacarpal created_by: doelkens creation_date: 2009-01-05T06:19:01Z [Term] id: HP:0009236 name: Rhomboid or triangular shaped 5th finger proximal phalanx def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [HPO:curators] is_a: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T06:20:38Z [Term] id: HP:0009237 name: Short 5th finger alt_id: HP:0001205 alt_id: HP:0004208 alt_id: HP:0004210 alt_id: HP:0004211 alt_id: HP:0004215 alt_id: HP:0004217 alt_id: HP:0005804 alt_id: HP:0005888 def: "Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger." [HPO:sdoelken] synonym: "Fifth finger brachydactyly" EXACT [] synonym: "Hypoplastic phalanges of the little finger" EXACT [] synonym: "Hypoplastic/small 5th finger" EXACT [] synonym: "Hypoplastic/small little finger" EXACT [] synonym: "Short fifth finger" EXACT [] synonym: "Short fifth fingers" EXACT [] synonym: "Short fifth fingers," EXACT [] synonym: "Short little finger" EXACT [] synonym: "Short phalanges of the little finger" EXACT [] xref: UMLS:C1841683 "Fifth finger brachydactyly" is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009381 ! Short finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `fifth finger` (FMA:24949), also known as the little finger." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-05T06:54:07Z [Term] id: HP:0009238 name: Aplasia of the 5th finger def: "Absent 5th (little) finger." [HPO:curators] is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-05T07:02:48Z [Term] id: HP:0009239 name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009240 name: Broad distal phalanx of the 5th finger def: "Increased width of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009241 name: Bullet-shaped distal phalanx of the 5th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009242 name: Osteolytic defects of the distal phalanx of the 5th finger def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009243 name: Patchy sclerosis of the distal phalanx of the 5th finger def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of 5th finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100903 ! Sclerosis of the distal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009244 name: Distal/middle symphalangism of 5th finger alt_id: HP:0006250 alt_id: HP:0009176 def: "Fusion of the terminal/distal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Fifth finger distal interphalangeal joint symphalangism" EXACT [] synonym: "Fusion of the terminal and middle phalanges of the 5th finger" RELATED [] synonym: "Symphalangism of the distal and middle phalanges of the 5th finger" EXACT [] synonym: "Symphalangism of the terminal and middle phalanges of the 5th finger" EXACT [] xref: UMLS:C1868573 "Fifth finger distal interphalangeal joint symphalangism" is_a: HP:0001204 ! Distal symphalangism (hands) is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009178 ! Symphalangism of middle phalanx of 5th finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009245 name: Triangular shaped distal phalanx of the 5th finger def: "Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009246 name: Aplasia of the distal phalanx of the 5th finger def: "Absence of the distal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:27:52Z [Term] id: HP:0009247 name: Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-07T11:29:14Z [Term] id: HP:0009248 name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009249 name: Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009250 name: Absent epiphysis of the distal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009251 name: Bracket epiphysis of the distal phalanx of the 4th finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009252 name: Cone-shaped epiphysis of the distal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009253 name: Enlarged epiphysis of the distal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009254 name: Fragmentation of the epiphysis of the distal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009255 name: Irregular epiphysis of the distal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009256 name: Ivory epiphysis of the distal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009257 name: Pseudoepiphysis of the distal phalanx of the 4th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009258 name: Small epiphysis of the distal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009259 name: Stippling of the epiphysis of the distal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009260 name: Triangular epiphysis of the distal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 4th finger" EXACT [] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009261 name: Absent epiphysis of the proximal phalanx of the 4th finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009262 name: Bracket epiphysis of the proximal phalanx of the 4th finger alt_id: HP:0004200 def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] synonym: "Bracket proximal epiphysis of the ring finger" EXACT [] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009263 name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009264 name: Enlarged epiphysis of the proximal phalanx of the 4th finger def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009265 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009266 name: Irregular epiphysis of the proximal phalanx of the 4th finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009267 name: Ivory epiphysis of the proximal phalanx of the 4th finger def: "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009268 name: Pseudoepiphysis of the proximal phalanx of the 4th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009269 name: Small epiphysis of the proximal phalanx of the 4th finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009270 name: Stippling of the epiphysis of the proximal phalanx of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of the 4th finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009271 name: Triangular epiphysis of the proximal phalanx of the 4th finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 4th finger" EXACT [] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009272 name: Aplasia/Hypoplasia of the 4th finger def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [HPO:curators] is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-07T04:01:26Z [Term] id: HP:0009273 name: Deviation of the 4th finger def: "Displacement of the 4th finger from its normal position." [HPO:curators] is_a: HP:0004097 ! Deviation of finger is_a: HP:0004188 ! Abnormality of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:03:23Z [Term] id: HP:0009274 name: Joint contracture of the 4th finger alt_id: HP:0004189 def: "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson] synonym: "Joint contractures of the fourth finger" EXACT [] is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-07T04:04:54Z [Term] id: HP:0009275 name: Contracture of the distal interphalangeal joint of the 4th finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:probinson] is_a: HP:0009274 ! Joint contracture of the 4th finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009276 name: Contracture of the proximal interphalangeal joint of the 4th finger alt_id: HP:0005845 def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] synonym: "4th finger camptodactyly" EXACT [] synonym: "Camptodactyly of the 4th finger" EXACT [] synonym: "Camptodactyly of the ring finger" EXACT [] is_a: HP:0009274 ! Joint contracture of the 4th finger is_a: HP:0100490 ! Camptodactyly of finger created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009277 name: Contracture of the metacarpophalangeal joint of the 4th finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009274 ! Joint contracture of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009278 name: Ulnar deviation of the 4th finger def: "Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger)." [HPO:sdoelken] is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009465 ! Ulnar deviation of finger created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009279 name: Radial deviation of the 4th finger def: "Displacement of the 4th finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken] is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009466 ! Radial deviation of finger created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009280 name: Short 4th finger alt_id: HP:0004190 alt_id: HP:0006211 def: "Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger." [HPO:sdoelken] synonym: "Hypoplastic/small 4th finger" EXACT [] synonym: "Short ring finger" EXACT [] xref: UMLS:C1862164 "Short 4th-5th fingers" is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009381 ! Short finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `fourth finger` (FMA:24948), also known as the ring finger." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009281 name: Aplasia of the 4th finger def: "Absent 4th finger." [HPO:curators] is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009282 name: Abnormality of the distal phalanx of the 4th finger is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009283 name: Abnormality of the middle phalanx of the 4th finger alt_id: HP:0004204 synonym: "Abnormality of the middle phalanx of the ring finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009284 name: Abnormality of the proximal phalanx of the 4th finger alt_id: HP:0004199 synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009285 name: Curved phalanges of the 4th finger def: "Curved appearance of the phalanges of the 4th (ring) finger." [HPO:curators] is_a: HP:0004095 ! Curved fingers is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:44:14Z [Term] id: HP:0009286 name: Curved distal phalanx of the 4th finger def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009287 name: Curved middle phalanx of the 4th finger def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009288 name: Curved proximal phalanx of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009289 name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T03:59:04Z [Term] id: HP:0009290 name: Short distal phalanx of the 4th finger def: "Hypoplastic/small distal phalanx of the fourth finger." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 4th finger" EXACT [] synonym: "Short distal phalanx of the fourth finger" EXACT [] is_a: HP:0009280 ! Short 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009882 ! Short distal phalanx of finger property_value: HP:0040005 "Hypoplastic/small `distal phalanx of the fourth finger` (FMA:23948)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-08T03:59:28Z [Term] id: HP:0009291 name: Aplasia of the distal phalanx of the 4th finger def: "Absence of the distal phalanx of the ring (4th) finger." [HPO:curators] is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:00:27Z [Term] id: HP:0009292 name: Broad distal phalanx of the 4th finger def: "Increased width of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009293 name: Broad middle phalanx of the 4th finger def: "Increased width of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009844 ! Broad middle phalanx of finger created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009294 name: Absent middle phalanx of 4th finger def: "Absence of the middle phalanx of the ring (4th) finger." [HPO:curators] synonym: "Aplasia of the middle phalanx of the 4th finger" EXACT [] is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009295 name: Short middle phalanx of the 4th finger alt_id: HP:0004205 alt_id: HP:0004206 def: "Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 4th finger" EXACT [] synonym: "Short middle phalanx of ring finger" EXACT [] is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009280 ! Short 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger property_value: HP:0040005 "Hypoplastic/small `middle phalanx of the 4th finger` (FMA:23935), also known as the ring finger." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009296 name: Bullet-shaped middle phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009297 name: Osteolytic defects of the middle phalanx of the 4th finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009298 name: Aplasia of the proximal phalanx of the 4th finger def: "Absence of the proximal phalanx of the ring (4th) finger." [HPO:curators] is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:22:16Z [Term] id: HP:0009299 name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:27:22Z [Term] id: HP:0009300 name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:28:54Z [Term] id: HP:0009301 name: Short proximal phalanx of the 4th finger def: "Hypoplastic/small proximal phalanx of the fourth finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 4th finger" EXACT [] synonym: "Short proximal phalanx of the fourth finger" EXACT [] is_a: HP:0009280 ! Short 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: HP:0040005 "Hypoplastic/small `proximal phalanx of the fourth finger` (FMA:23921)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-08T04:29:38Z [Term] id: HP:0009302 name: Bullet-shaped distal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009303 name: Osteolytic defects of the distal phalanx of the 4th finger def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009304 name: Patchy sclerosis of the distal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger." [HPO:probinson] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100902 ! Sclerosis of the distal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009305 name: Distal/middle symphalangism of 4th finger alt_id: HP:0009474 alt_id: HP:0009475 def: "Fusion of the terminal/distal and middle phalanges of the 4th finger." [HPO:curators] synonym: "Symphalangism of the distal and middle phalanges of the 4th finger" EXACT [] is_a: HP:0001204 ! Distal symphalangism (hands) is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009306 name: Triangular shaped distal phalanx of the 4th finger def: "Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009307 name: Patchy sclerosis of the middle phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger." [HPO:probinson] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100906 ! Sclerosis of the middle phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009308 name: Symphalangism of middle phalanx of 4th finger def: "Fusion of the middle phalanx of the 4th finger with another bone." [HPO:sdoelken] is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009309 name: Triangular shaped middle phalanx of the 4th finger def: "Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009310 name: Broad proximal phalanx of the 4th finger def: "Increased width of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009311 name: Bullet-shaped proximal phalanx of the 4th finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected." [HPO:curators] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009312 name: Osteolytic defects of the proximal phalanx of the 4th finger def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009313 name: Patchy sclerosis of the proximal phalanx of the 4th finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger." [HPO:probinson] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of 4th finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100910 ! Sclerosis of the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009314 name: Symphalangism affecting the proximal phalanx of the 4th finger def: "Fusion of the proximal phalanx of the 4th finger with another bone." [HPO:curators] is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009315 name: Triangular shaped proximal phalanx of the 4th finger def: "Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009316 name: Abnormality of the phalanges of the 3rd finger alt_id: HP:0004155 def: "Abnormality of the phalanges of the 3rd (middle) finger." [HPO:curators] synonym: "Abnormality of 3rd finger phalanges" EXACT [] synonym: "Abnormality of middle finger phalanges" EXACT [] is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-01-12T11:00:24Z [Term] id: HP:0009317 name: Deviation of the 3rd finger alt_id: HP:0004152 def: "Displacement of the 3rd finger from its normal position." [HPO:curators] synonym: "Deviated middle finger" EXACT [] is_a: HP:0004097 ! Deviation of finger is_a: HP:0004150 ! Abnormality of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:02:27Z [Term] id: HP:0009318 name: Aplasia/Hypoplasia of the 3rd finger def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [HPO:curators] is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-12T11:04:08Z [Term] id: HP:0009319 name: Joint contracture of the 3rd finger alt_id: HP:0004151 def: "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson] synonym: "Camptodactyly of middle finger" EXACT [] is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-12T11:05:43Z [Term] id: HP:0009320 name: Abnormality of the epiphyses of the 3rd finger def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [HPO:curators] is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:07:00Z [Term] id: HP:0009321 name: Absent epiphysis of the middle phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009322 name: Bracket epiphysis of the middle phalanx of the 3rd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009323 name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009324 name: Enlarged epiphysis of the middle phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009325 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009326 name: Irregular epiphysis of the middle phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009327 name: Ivory epiphysis of the middle phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009328 name: Pseudoepiphysis of the middle phalanx of the 3rd finger alt_id: HP:0004176 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] synonym: "Pseudoepiphyses of middle phalanx of middle-finger" EXACT [] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009329 name: Small epiphysis of the middle phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009330 name: Stippling of the epiphysis of the middle phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009331 name: Triangular epiphysis of the middle phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 3rd finger" EXACT [] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009332 name: Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-12T11:16:06Z [Term] id: HP:0009333 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009334 name: Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009335 name: Absent epiphysis of the distal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009336 name: Bracket epiphysis of the distal phalanx of the 3rd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009337 name: Cone-shaped epiphysis of the distal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009338 name: Enlarged epiphysis of the distal phalanx of the 3rd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009339 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009340 name: Irregular epiphysis of the distal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009341 name: Ivory epiphysis of the distal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009342 name: Pseudoepiphysis of the distal phalanx of the 3rd finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009343 name: Small epiphysis of the distal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009344 name: Stippling of the epiphysis of the distal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009345 name: Triangular epiphysis of the distal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 3rd finger" EXACT [] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009346 name: Absent epiphysis of the proximal phalanx of the 3rd finger def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009347 name: Bracket epiphysis of the proximal phalanx of the 3rd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009348 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009349 name: Enlarged epiphysis of the proximal phalanx of the 3rd finger alt_id: HP:0004171 def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Large epiphysis of proximal middle-finger phalanx" EXACT [] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009350 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009351 name: Irregular epiphysis of the proximal phalanx of the 3rd finger def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009352 name: Ivory epiphysis of the proximal phalanx of the 3rd finger def: "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009353 name: Pseudoepiphysis of the proximal phalanx of the 3rd finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009354 name: Small epiphysis of the proximal phalanx of the 3rd finger def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009355 name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of the 3rd finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009356 name: Triangular epiphysis of the proximal phalanx of the 3rd finger def: "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger" EXACT [] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009357 name: Abnormality of the distal phalanx of the 3rd finger alt_id: HP:0004179 synonym: "Abnormality of terminal phalanx of middle-finger" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:40:58Z [Term] id: HP:0009358 name: Abnormality of the proximal phalanx of the 3rd finger alt_id: HP:0004167 synonym: "Abnormality of proximal middle-finger phalanx" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:42:37Z [Term] id: HP:0009370 name: Type A brachydactyly is_a: HP:0001156 ! Brachydactyly syndrome created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009371 name: Type A1 brachydactyly xref: UMLS:C1862151 "BRACHYDACTYLY, TYPE A1" is_a: HP:0009370 ! Type A brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009372 name: Type A2 brachydactyly xref: UMLS:C1832702 "BRACHYDACTYLY, TYPE A2" is_a: HP:0009370 ! Type A brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009373 name: Type C brachydactyly xref: UMLS:C1862103 "BRACHYDACTYLY, TYPE C" is_a: HP:0001156 ! Brachydactyly syndrome created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009374 name: Broad phalanges of the 5th finger def: "Increased width of the phalanges of the 5th finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-13T10:55:04Z [Term] id: HP:0009375 name: Bullet-shaped phalanges of the 5th finger def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T10:58:05Z [Term] id: HP:0009376 name: Aplasia/Hypoplasia of the phalanges of the 5th finger def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T11:58:25Z [Term] id: HP:0009377 name: Patchy sclerosis of 5th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the 5th finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 5th finger" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx created_by: doelkens creation_date: 2009-01-13T12:00:02Z [Term] id: HP:0009378 name: Triangular shaped phalanges of the 5th finger def: "Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T12:00:35Z [Term] id: HP:0009379 name: Rhomboid or triangular shaped 5th finger distal phalanx def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [HPO:curators] is_a: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-13T01:01:44Z [Term] id: HP:0009380 name: Aplasia of the fingers alt_id: HP:0004093 def: "Aplasia of one or more fingers." [HPO:curators] synonym: "Absent fingers" EXACT [] is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-13T01:05:32Z [Term] id: HP:0009381 name: Short finger alt_id: HP:0004098 alt_id: HP:0006015 def: "Abnormally short finger associated with developmental hypoplasia." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic digits" EXACT [] synonym: "Hypoplastic fingers" EXACT [] synonym: "Hypoplastic/small fingers" EXACT [] xref: SNOMEDCT:249765007 "Short finger" xref: UMLS:C0239594 "Short finger" is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers is_a: HP:0011927 ! Short digit property_value: HP:0040005 "Abnormally short `finger` (FMA:9666) associated with developmental hypoplasia." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-13T01:07:38Z [Term] id: HP:0009382 name: Absent epiphyses of the 5th finger def: "Absence of one or more epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009383 name: Bracket epiphyses of the 5th finger def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009384 name: Cone-shaped epiphyses of the 5th finger def: "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009385 name: Enlarged epiphyses of the 5th finger def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009386 name: Fragmentation of the epiphyses of the 5th finger def: "Fragmented appearance of the epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009387 name: Irregular epiphyses of the 5th finger def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009388 name: Ivory epiphyses of the 5th finger def: "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100921 ! Sclerosis of 5th finger phalanx created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009389 name: Pseudoepiphyses of the 5th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009390 name: Small epiphyses of the 5th finger def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009391 name: Stippling of the epiphyses of the 5th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009392 name: Triangular epiphyses of the 5th finger def: "A triangular appearance of the epiphyses of the 5th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 5th finger" EXACT [] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009393 name: Absent epiphyses of the 4th finger def: "Absence of one or more epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009394 name: Bracket epiphyses of the 4th finger def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009395 name: Cone-shaped epiphyses of the 4th finger def: "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009396 name: Enlarged epiphyses of the 4th finger def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009397 name: Fragmentation of the epiphyses of the 4th finger def: "Fragmented appearance of the epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009398 name: Irregular epiphyses of the 4th finger def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009399 name: Ivory epiphyses of the 4th finger def: "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100920 ! Sclerosis of 4th finger phalanx created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009400 name: Pseudoepiphyses of the 4th finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009401 name: Small epiphyses of the 4th finger def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009402 name: Stippling of the epiphyses of the 4th finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009403 name: Triangular epiphyses of the 4th finger def: "A triangular appearance of the epiphyses of the 4th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 4th finger" EXACT [] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009404 name: Broad phalanges of the 4th finger def: "Increased width of the phalanges of the 4th finger." [HPO:curators] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009405 name: Bullet-shaped phalanges of the 4th finger def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009406 name: Patchy sclerosis of 4th finger phalanx def: "Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 4th finger" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009407 name: Triangular shaped phalanges of the 4th finger def: "Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009408 name: Aplasia/Hypoplasia of the phalanges of the 4th finger is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009410 name: Absent epiphyses of the 3rd finger def: "Absence of the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009411 name: Bracket epiphyses of the 3rd finger def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009412 name: Cone-shaped epiphyses of the 3rd finger def: "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009413 name: Enlarged epiphyses of the 3rd finger def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009414 name: Fragmentation of the epiphyses of the 3rd finger def: "Fragmented appearance of the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009415 name: Irregular epiphyses of the 3rd finger def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009416 name: Ivory epiphyses of the 3rd finger def: "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009417 name: Pseudoepiphyses of the 3rd finger alt_id: HP:0004163 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] synonym: "Pseudoepiphyses of middle finger phalanges" EXACT [] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009418 name: Small epiphyses of the 3rd finger def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009419 name: Stippling of the epiphyses of the 3rd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009420 name: Triangular epiphyses of the 3rd finger def: "A triangular appearance of the epiphyses of the 3rd finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 3rd finger" EXACT [] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009421 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009422 name: Broad distal phalanx of the 3rd finger def: "Increased width of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009423 name: Bullet-shaped distal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009424 name: Osteolytic defects of the distal phalanx of the 3rd finger alt_id: HP:0004181 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Lytic defectof terminal phalanx of middle finger" EXACT [] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009425 name: Patchy sclerosis of the distal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the third finger." [HPO:probinson] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100901 ! Sclerosis of the distal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009426 name: Distal/middle symphalangism of 3rd finger alt_id: HP:0009479 alt_id: HP:0009480 def: "Fusion of the terminal/distal and middle phalanges of the 3rd finger." [HPO:curators] synonym: "Symphalangism of the distal and middle phalanges of the 3rd finger" EXACT [] is_a: HP:0001204 ! Distal symphalangism (hands) is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009427 name: Triangular shaped distal phalanx of the 3rd finger def: "Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009428 name: Curved distal phalanx of the 3rd finger def: "Curved appearance of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009429 name: Aplasia of the distal phalanx of the 3rd finger def: "Absence of the distal phalanx of the middle (3rd) finger." [HPO:curators] is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:18:42Z [Term] id: HP:0009430 name: Broad middle phalanx of the 3rd finger alt_id: HP:0004178 def: "Increased width of the middle phalanx of the 3rd finger." [HPO:curators] synonym: "Wide/broad middle phalanx of middle-finger" EXACT [] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009844 ! Broad middle phalanx of finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009431 name: Bullet-shaped middle phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009432 name: Curved middle phalanx of the 3rd finger def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009433 name: Osteolytic defects of the middle phalanx of the 3rd finger def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009434 name: Patchy sclerosis of the middle phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the third finger." [HPO:probinson] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100905 ! Sclerosis of the middle phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009435 name: Symphalangism of middle phalanx of 3rd finger def: "Fusion of the middle phalanx of the 3rd finger with another bone." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009436 name: Triangular shaped middle phalanx of the 3rd finger def: "Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009437 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009438 name: Absent middle phalanx of 3rd finger alt_id: HP:0004173 def: "Absence of the middle phalanx of the middle (3rd) finger." [HPO:sdoelken] synonym: "Absent middle phalanx of middle finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 3rd finger" EXACT [] is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009439 name: Short middle phalanx of the 3rd finger alt_id: HP:0004177 alt_id: HP:0006212 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 3rd finger" EXACT [] is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `middle phalanx of the third finger` (FMA:23934)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009440 name: Broad phalanges of the 3rd finger alt_id: HP:0004166 def: "Increased width of the phalanges of the 3rd finger." [HPO:curators] synonym: "Wide/broad middle finger phalanges" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009441 name: Bullet-shaped phalanges of the 3rd finger def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009442 name: Curved phalanges of the 3rd finger def: "Curved appearance of the phalanges of the 3rd finger." [HPO:curators] is_a: HP:0004095 ! Curved fingers is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009443 name: Osteolytic defects of the phalanges of the 3rd finger alt_id: HP:0004159 def: "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger." [HPO:curators] synonym: "Lytic defects of middle finger phalanges" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009444 name: Patchy sclerosis of 3rd finger phalanx alt_id: HP:0004160 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger." [HPO:probinson] synonym: "Patchy sclerosis of middle finger phalanges" EXACT [] synonym: "Patchy sclerosis of the phalanges of the 3rd finger" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009445 name: Symphalangism of the 3rd finger def: "Fusion of two or more bones of the 3rd finger." [HPO:curators] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009446 name: Triangular shaped phalanges of the 3rd finger def: "Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009447 name: Aplasia/Hypoplasia of the phalanges of the 3rd finger is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009448 name: obsolete Aplasia of the phalanges of the 3rd finger alt_id: HP:0004156 synonym: "Absent middle finger phalanges" EXACT [] is_obsolete: true consider: HP:0009447 created_by: doelkens creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009449 name: obsolete Hypoplastic/small phalanges of the 3rd finger alt_id: HP:0004158 alt_id: HP:0004164 alt_id: HP:0004165 synonym: "Hypoplastic middle finger phalanges" EXACT [] synonym: "Short middle finger phalanges" EXACT [] synonym: "Small middle finger phalanges" EXACT [] is_obsolete: true replaced_by: HP:0009447 created_by: doelkens creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009450 name: Broad proximal phalanx of the 3rd finger def: "Increased width of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009451 name: Bullet-shaped proximal phalanx of the 3rd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009452 name: Curved proximal phalanx of the 3rd finger def: "Curved appearance of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009453 name: Osteolytic defects of the proximal phalanx of the 3rd finger def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009454 name: Patchy sclerosis of the proximal phalanx of the 3rd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the third finger." [HPO:probinson] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of 3rd finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100909 ! Sclerosis of the proximal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009455 name: Symphalangism affecting the proximal phalanx of the 3rd finger def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009456 name: Triangular shaped proximal phalanx of the 3rd finger def: "Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009457 name: Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T04:34:45Z [Term] id: HP:0009458 name: Aplasia of the proximal phalanx of the 3rd finger def: "Absence of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009459 name: Short proximal phalanx of the 3rd finger alt_id: HP:0004169 alt_id: HP:0004170 def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 3rd finger" EXACT [] synonym: "Short proximal middle-finger phalanx" EXACT [] synonym: "Short proximal phalanx of the third finger" EXACT [] synonym: "Small proximal middle-finger phalanx" EXACT [] is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009461 ! Short 3rd finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `proximal phalanx of the third finger` (FMA:23920)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009460 name: Aplasia of the 3rd finger def: "Absent 3rd finger." [HPO:curators] is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-14T04:56:33Z [Term] id: HP:0009461 name: Short 3rd finger alt_id: HP:0004154 def: "Hypoplastic/small 3rd (middle) finger." [HPO:sdoelken] synonym: "Hypoplastic/small 3rd finger" EXACT [] synonym: "Short middle finger" EXACT [] is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009381 ! Short finger created_by: doelkens creation_date: 2009-01-14T04:57:43Z [Term] id: HP:0009462 name: Radial deviation of the 3rd finger def: "Displacement of the 3rd finger towards the radial side (i.e., towards the thumb)." [HPO:sdoelken] is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009466 ! Radial deviation of finger created_by: doelkens creation_date: 2009-01-15T09:35:10Z [Term] id: HP:0009463 name: Ulnar deviation of the 3rd finger alt_id: HP:0005865 alt_id: HP:0006022 def: "Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger)." [HPO:sdoelken] synonym: "Ulnar deviation of middle fingers" EXACT [] is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009465 ! Ulnar deviation of finger created_by: doelkens creation_date: 2009-01-15T09:35:47Z [Term] id: HP:0009464 name: Ulnar deviation of the 2nd finger alt_id: HP:0004102 alt_id: HP:0005811 def: "Displacement of the 2nd (index) finger towards the ulnar side." [HPO:curators] synonym: "Medially deviated index finger" EXACT [] synonym: "Second finger ulnar deviation" EXACT [] synonym: "Ulnar angulation of the index finger" EXACT [] synonym: "Ulnar deviation of index fingers" EXACT [] xref: UMLS:C1841682 "Second finger ulnar deviation" is_a: HP:0009465 ! Ulnar deviation of finger is_a: HP:0009468 ! Deviation of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:37:48Z [Term] id: HP:0009465 name: Ulnar deviation of finger alt_id: HP:0001200 alt_id: HP:0004096 def: "Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Medially deviated fingers" EXACT [] xref: SNOMEDCT:276662009 "Ulnar deviation of finger" xref: SNOMEDCT:367510009 "Ulnar deviation of the fingers" xref: UMLS:C0231679 "Ulnar deviation of the fingers" is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand is_a: HP:0004097 ! Deviation of finger created_by: doelkens creation_date: 2009-01-15T09:39:43Z [Term] id: HP:0009466 name: Radial deviation of finger alt_id: HP:0001157 alt_id: HP:0001213 alt_id: HP:0001503 def: "Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Radially deviated fingers" EXACT [] synonym: "Radially deviated phalanges" EXACT [] xref: UMLS:C1847407 "Radially deviated phalanges" is_a: HP:0004097 ! Deviation of finger is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T09:40:27Z [Term] id: HP:0009467 name: Radial deviation of the 2nd finger alt_id: HP:0004103 alt_id: HP:0006053 def: "Displacement of the 2nd finger towards the radial side." [HPO:curators] synonym: "Radially deviated index finger" EXACT [] synonym: "Second finger clinodactyly" EXACT [] xref: UMLS:C1844709 "Second finger clinodactyly" is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009468 ! Deviation of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:40:58Z [Term] id: HP:0009468 name: Deviation of the 2nd finger alt_id: HP:0004101 def: "Displacement of the 2nd finger from its normal position." [HPO:curators] synonym: "Deviated index finger" EXACT [] is_a: HP:0004097 ! Deviation of finger is_a: HP:0004100 ! Abnormality of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:42:36Z [Term] id: HP:0009469 name: Contracture of the distal interphalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:probinson] is_a: HP:0009319 ! Joint contracture of the 3rd finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009470 name: Contracture of the metacarpophalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009319 ! Joint contracture of the 3rd finger created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009471 name: Contracture of the proximal interphalangeal joint of the 3rd finger def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] synonym: "Camptodactyly of the 3rd finger" EXACT [] synonym: "Camptodactyly of the third finger" EXACT [] is_a: HP:0009319 ! Joint contracture of the 3rd finger is_a: HP:0100490 ! Camptodactyly of finger created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009473 name: Joint contracture of the hand alt_id: HP:0001160 alt_id: HP:0001237 alt_id: HP:0004094 alt_id: HP:0005814 alt_id: HP:0006096 alt_id: HP:0006173 alt_id: HP:0006215 alt_id: HP:0006238 alt_id: HP:0006255 alt_id: HP:0009409 alt_id: HP:0009472 alt_id: HP:0010563 def: "Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue." [HPO:sdoelken] subset: hposlim_core synonym: "Contractures involving the hands" EXACT [] synonym: "Contractures of the hands" EXACT [] xref: MEDRA:10010821 "Contracture of hand joint" xref: SNOMEDCT:86414002 "Contracture of joint of hand" xref: UMLS:C0158113 "Contracture of joint of hand" is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0100360 ! Contractures of the joints of the upper limbs created_by: doelkens creation_date: 2009-01-15T09:59:59Z [Term] id: HP:0009477 name: Proximal/middle symphalangism of 4th finger alt_id: HP:0009476 def: "Fusion of the proximal and middle phalanges of the 4th finger." [HPO:sdoelken] is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009308 ! Symphalangism of middle phalanx of 4th finger is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009478 name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger is_a: HP:0009707 ! Synostosis involving the 4th metacarpal created_by: doelkens creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009482 name: Proximal/middle symphalangism of 3rd finger alt_id: HP:0009481 def: "Fusion of the proximal and middle phalanges of the 3rd finger." [HPO:curators] is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009435 ! Symphalangism of middle phalanx of 3rd finger is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009483 name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger is_a: HP:0009706 ! Synostosis involving the 3rd metacarpal created_by: doelkens creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009484 name: Deviation of the hand or of fingers of the hand def: "Displacement of the hand or of fingers of the hand from their normal position." [HPO:curators] is_a: HP:0001155 ! Abnormality of the hand created_by: doelkens creation_date: 2009-01-15T10:45:01Z [Term] id: HP:0009485 name: Radial deviation of the hand or of fingers of the hand is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:49:51Z [Term] id: HP:0009486 name: Radial deviation of the hand alt_id: HP:0001203 def: "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [HPO:probinson] subset: hposlim_core synonym: "Radial deviation of hands" EXACT [] xref: SNOMEDCT:299035006 "Radial deviation of hand" xref: UMLS:C0575803 "Radial deviation of hand" is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:51:21Z [Term] id: HP:0009487 name: Ulnar deviation of the hand def: "Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger)." [HPO:probinson, pmid:19125433] subset: hposlim_core xref: SNOMEDCT:249757009 "Ulnar deviation of hand" xref: UMLS:C0241521 "Ulnar deviation of hand" is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:51:52Z [Term] id: HP:0009488 name: Absent epiphyses of the 2nd finger def: "Absence of the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009489 name: Bracket epiphyses of the 2nd finger alt_id: HP:0004109 def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket-epiphyses (index finger)" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009490 name: Cone-shaped epiphyses of the 2nd finger def: "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009491 name: Enlarged epiphyses of the 2nd finger def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009492 name: Fragmentation of the epiphyses of the 2nd finger def: "Fragmented appearance of the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009493 name: Irregular epiphyses of the 2nd finger def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009494 name: Ivory epiphyses of the 2nd finger def: "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009495 name: Pseudoepiphyses of the 2nd finger alt_id: HP:0004107 alt_id: HP:0006142 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] synonym: "Accessory index finger phalanges" EXACT [] synonym: "Hyperphalangy of index finger" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009496 name: Small epiphyses of the 2nd finger def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009497 name: Stippling of the epiphyses of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009498 name: Triangular epiphyses of the 2nd finger def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009499 name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004146 synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009500 name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004135 synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009501 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004127 synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009502 name: Absent epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004147 def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Absent ossification/absent epiphysis of terminal index finger phalanx" EXACT [] is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009503 name: Bracket epiphysis of the distal phalanx of the 2nd finger def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009504 name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009505 name: Enlarged epiphysis of the distal phalanx of the 2nd finger def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009506 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009507 name: Irregular epiphysis of the distal phalanx of the 2nd finger def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009508 name: Ivory epiphysis of the distal phalanx of the 2nd finger alt_id: HP:0004148 def: "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Ivory epiphysis of terminal index finger phalanx" EXACT [] is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009509 name: Pseudoepiphysis of the distal phalanx of the 2nd finger def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009510 name: Small epiphysis of the distal phalanx of the 2nd finger def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009511 name: Stippling of the epiphysis of the distal phalanx of the 2nd finger def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009512 name: Triangular epiphysis of the distal phalanx of the 2nd finger def: "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009513 name: Absent epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004136 synonym: "Absent epiphyses of middle phalanx of index finger" EXACT [] is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009514 name: Bracket epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009515 name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger alt_id: HP:0004137 synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT [] is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009516 name: Enlarged epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009517 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009518 name: Irregular epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009519 name: Ivory epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009520 name: Pseudoepiphysis of the middle phalanx of the 2nd finger is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009521 name: Small epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009522 name: Stippling of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009523 name: Triangular epiphysis of the middle phalanx of the 2nd finger is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009524 name: Absent epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009525 name: Bracket epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004120 synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT [] is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009526 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004128 synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT [] is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009527 name: Enlarged epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004129 synonym: "Large epiphysis of proximal index finger phalanx" EXACT [] is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009528 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009529 name: Irregular epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009530 name: Ivory epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009531 name: Pseudoepiphysis of the proximal phalanx of the 2nd finger is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009532 name: Small epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009533 name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0009497 ! Stippling of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009534 name: Triangular epiphysis of the proximal phalanx of the 2nd finger alt_id: HP:0004130 synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT [] is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009535 name: Aplasia of the 2nd finger alt_id: HP:0004106 def: "Absent 2nd (index) finger." [HPO:curators] synonym: "Absent index finger phalanges" EXACT [] synonym: "Aplasia of the index finger" EXACT [] is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009536 name: Short 2nd finger alt_id: HP:0004104 alt_id: HP:0004113 alt_id: HP:0004115 alt_id: HP:0005796 def: "Hypoplasia of the second finger, also known as the index finger." [HPO:sdoelken] synonym: "Hypoplastic index finger phalanges" EXACT [] synonym: "Hypoplastic/small index finger" EXACT [] synonym: "Short index finger" EXACT [] synonym: "Short index finger phalanges" EXACT [] synonym: "Short index fingers" EXACT [] xref: UMLS:C1862142 "Short index finger" is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009381 ! Short finger property_value: HP:0040005 "Hypoplasia of the `second finger` (FMA:24946), also known as the index finger." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009537 name: Flexion contracture of the 2nd finger def: "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Joint contractures of the 2nd finger" EXACT [] is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-21T10:10:27Z [Term] id: HP:0009538 name: Contracture of the distal interphalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:probinson] is_a: HP:0009537 ! Flexion contracture of the 2nd finger is_a: HP:0009697 ! Contracture of the distal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009539 name: Contracture of the metacarpophalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009537 ! Flexion contracture of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009540 name: Contracture of the proximal interphalangeal joint of the 2nd finger def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:probinson] synonym: "Camptodactyly of 2nd finger" EXACT [] synonym: "Camptodactyly of index finger" EXACT [] synonym: "Camptodactyly of second finger" EXACT [] is_a: HP:0009537 ! Flexion contracture of the 2nd finger is_a: HP:0100490 ! Camptodactyly of finger created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009541 name: Abnormality of the phalanges of the 2nd finger alt_id: HP:0004105 def: "Abnormality of the phalanges of the 2nd (index) finger." [HPO:curators] synonym: "Abnormality of 2nd finger phalanges" EXACT [] is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0005918 ! Abnormality of phalanx of finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:15:07Z [Term] id: HP:0009542 name: Abnormality of the distal phalanx of the 2nd finger alt_id: HP:0004140 synonym: "Abnormality of terminal index finger phalanx" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009543 name: Abnormality of the middle phalanx of the 2nd finger alt_id: HP:0004131 synonym: "Abnormality of middle 2nd finger phalanx" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009544 name: Abnormality of the proximal phalanx of the 2nd finger alt_id: HP:0004119 synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009545 name: Symphalangism of the 2nd finger alt_id: HP:0004116 synonym: "Symphalangism of index finger phalanges" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009546 name: Triangular shaped phalanges of the 2nd finger alt_id: HP:0004117 def: "Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular index finger phalanges" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009547 name: Broad phalanges of the 2nd finger alt_id: HP:0004118 synonym: "Wide/broad index finger phalanges" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009548 name: Bullet-shaped phalanges of the 2nd finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009549 name: Curved phalanges of the 2nd finger is_a: HP:0004095 ! Curved fingers is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009550 name: Osteolytic defects of the phalanges of the 2nd finger alt_id: HP:0004114 synonym: "Lytic defect in index finger phalanges" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009551 name: Patchy sclerosis of 2nd finger phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 2nd finger" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009552 name: Aplasia/Hypoplasia of the phalanges of the 2nd finger is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009553 name: Abnormality of the hairline def: "The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair." [HPO:probinson] is_a: HP:0011361 ! Congenital abnormal hair pattern is_a: HP:0100037 ! Abnormality of the scalp hair property_value: HP:0040005 "The hairline refers to the outline of `hair of the head` (FMA:54241). An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-21T05:19:14Z [Term] id: HP:0009554 name: Projection of scalp hair onto lateral cheek def: "An tongue-like extension of hair towards the cheeks." [HPO:curators] is_a: HP:0009553 ! Abnormality of the hairline created_by: peter creation_date: 2009-01-21T05:21:54Z [Term] id: HP:0009555 name: Hypoplasia of the pharynx def: "Underdevelopment of the pharynx." [HPO:curators] is_a: HP:0000600 ! Abnormality of the pharynx created_by: peter creation_date: 2009-01-21T05:24:16Z [Term] id: HP:0009556 name: Absent tibia def: "Absence of the tibia." [HPO:probinson] subset: hposlim_core synonym: "Aplasia of the tibia" EXACT [] is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia is_a: HP:0009817 ! Aplasia involving bones of the lower limbs created_by: peter creation_date: 2009-01-27T06:09:44Z [Term] id: HP:0009557 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009558 name: Broad distal phalanx of the 2nd finger def: "Increased width of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009836 ! Broad distal phalanx of finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009559 name: Bullet-shaped distal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009560 name: Curved distal phalanx of the 2nd finger def: "Curved appearance of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009561 name: Osteolytic defects of the distal phalanx of the 2nd finger alt_id: HP:0004108 alt_id: HP:0004142 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Acro-osteolysis of index finger" EXACT [] synonym: "Acro-osteolysis of terminal index finger phalanx" EXACT [] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009562 name: Patchy sclerosis of the distal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the distal phalanx of the second finger." [HPO:probinson] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100900 ! Sclerosis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009563 name: Distal/middle symphalangism of 2nd finger alt_id: HP:0009567 alt_id: HP:0009578 def: "Fusion of the terminal/distal and middle phalanges of the 2nd finger." [HPO:curators] synonym: "Symphalangism of the distal and middle phalanges of the 2nd finger" EXACT [] is_a: HP:0001204 ! Distal symphalangism (hands) is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009564 name: Triangular shaped distal phalanx of the 2nd finger def: "Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009565 name: Aplasia of the distal phalanx of the 2nd finger alt_id: HP:0004141 alt_id: HP:0005748 synonym: "Absent terminal index finger phalanx" EXACT [] is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009566 name: Short distal phalanx of the 2nd finger alt_id: HP:0004145 def: "Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger." [HPO:probinson] synonym: "Hypoplastic terminal index finger phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the 2nd finger" EXACT [] synonym: "Short distal phalanx of the second finger" EXACT [] synonym: "Short terminal index finger phalanx" EXACT [] is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009882 ! Short distal phalanx of finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `distal phalanx of the second finger` (FMA:23946)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009568 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger alt_id: HP:0006221 synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT [] synonym: "Hypoplastic/aplastic middle phalanx (2nd finger)" EXACT [] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009569 name: Broad middle phalanx of the 2nd finger def: "Increased width of the middle phalanx of the second finger." [HPO:sdoelken] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009844 ! Broad middle phalanx of finger property_value: HP:0040005 "Increased width of the `middle phalanx of the second finger` (FMA:23933)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009570 name: Bullet-shaped middle phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009571 name: Curved middle phalanx of the 2nd finger def: "Curved appearance of the middle phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009572 name: Osteolytic defects of the middle phalanx of the 2nd finger alt_id: HP:0004134 def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger." [HPO:curators] synonym: "Lytic defects of middle index finger phalanx" EXACT [] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009573 name: Patchy sclerosis of the middle phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the middle phalanx of the second finger." [HPO:probinson] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100904 ! Sclerosis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009574 name: Symphalangism of middle phalanx of 2nd finger def: "Fusion of the middle phalanx of the 2nd finger with another bone." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009575 name: Triangular shaped middle phalanx of the 2nd finger def: "Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009576 name: Absent middle phalanx of 2nd finger alt_id: HP:0005760 def: "Absence of the middle phalanx of the index (2nd) finger." [HPO:curators] synonym: "Absent middle phalanx of index finger" EXACT [] synonym: "Aplasia of the middle phalanx of the 2nd finger" EXACT [] is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009577 name: Short middle phalanx of the 2nd finger alt_id: HP:0004133 def: "Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger." [HPO:sdoelken] synonym: "Hypoplastic middle index finger phalanx" EXACT [] synonym: "Hypoplastic/small middle phalanx of the 2nd finger" EXACT [] is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `middle phalanx of the second finger` (FMA:23933), also known as the index finger." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009579 name: Proximal/middle symphalangism of the 2nd finger def: "Fusion of the proximal and middle phalanges of the 2nd finger." [HPO:curators] is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009574 ! Symphalangism of middle phalanx of 2nd finger is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:23:12Z [Term] id: HP:0009580 name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009581 name: Broad proximal phalanx of the 2nd finger alt_id: HP:0004126 def: "Increased width of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Wide/broad proximal index finger phalanx" EXACT [] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009582 name: Bullet-shaped proximal phalanx of the 2nd finger def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected." [HPO:curators] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009583 name: Curved proximal phalanx of the 2nd finger def: "Curved appearance of the proximal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009584 name: Osteolytic defects of the proximal phalanx of the 2nd finger alt_id: HP:0004123 def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Lytic defects of proximal index finger phalanx" EXACT [] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009585 name: Patchy sclerosis of the proximal phalanx of the 2nd finger def: "Uneven (irregular) increase in bone density of the proximal phalanx of the second finger." [HPO:probinson] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of 2nd finger phalanx is_a: HP:0009856 ! Patchy sclerosis of proximal phalanx of finger is_a: HP:0100908 ! Sclerosis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009586 name: Symphalangism affecting the proximal phalanx of the 2nd finger def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [HPO:curators] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009587 name: Triangular shaped proximal phalanx of the 2nd finger alt_id: HP:0004125 def: "Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:curators] synonym: "Triangular proximal index finger phalanx" EXACT [] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009588 name: Vestibular Schwannoma def: "A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [HPO:probinson] subset: hposlim_core synonym: "Acoustic Neuroma" EXACT [] synonym: "Vestibular neurilemmoma" EXACT [] synonym: "Vestibular neurinoma" EXACT [] synonym: "Vestibular neurolemmoma" EXACT [] synonym: "Vestibular Schwann cell tumor" EXACT [] xref: MeSH:D009464 "Neuroma, Acoustic" xref: SNOMEDCT:126949007 "Acoustic neuroma" xref: UMLS:C0027859 "Acoustic Neuroma" is_a: HP:0009591 ! Abnormality of the vestibulocochlear nerve is_a: HP:0040096 ! Neoplasm of the inner ear is_a: HP:0100008 ! Schwannoma created_by: peter creation_date: 2009-01-28T10:37:32Z [Term] id: HP:0009589 name: Bilateral vestibular Schwannoma def: "A bilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] synonym: "Bilateral acoustic neuromas" EXACT [] is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:39:14Z [Term] id: HP:0009590 name: Unilateral vestibular Schwannoma def: "A unilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] xref: UMLS:C1863653 "Unilateral vestibular schwannoma" is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:40:23Z [Term] id: HP:0009591 name: Abnormality of the vestibulocochlear nerve def: "Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." [HPO:probinson] synonym: "Abnormality of the eighth cranial nerve" EXACT [] synonym: "Abnormality of the VIIIth cranial nerve" EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves property_value: HP:0040005 "Abnormality of the `vestibulocochlear nerve` (FMA:50869), the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-28T10:42:57Z [Term] id: HP:0009592 name: Astrocytoma def: "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma." [HPO:curators] xref: MeSH:D001254 "Astrocytoma" xref: UMLS:C0004114 "Astrocytoma" is_a: HP:0009733 ! Glioma is_a: HP:0100707 ! Abnormality of the astrocytes property_value: HP:0040005 "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of `glioma` (HP:0009733)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-01-28T10:51:01Z [Term] id: HP:0009593 name: Peripheral Schwannoma def: "The presence of a peripheral schwannoma." [HPO:probinson] comment: A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells. is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100008 ! Schwannoma property_value: HP:0040005 "The presence of a `peripheral` (PATO:0002107) `schwannoma` (MPATH:438)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-28T10:55:58Z [Term] id: HP:0009594 name: Retinal hamartoma def: "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [HPO:probinson] xref: UMLS:C1863411 "Retinal hamartoma" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0010568 ! Hamartoma of the eye created_by: peter creation_date: 2009-01-28T10:58:47Z [Term] id: HP:0009595 name: Occasional neurofibromas def: "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1." [HPO:curators] xref: UMLS:C1863413 "Occasional neurofibroma" is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-28T11:12:19Z [Term] id: HP:0009596 name: Aplasia of the proximal phalanx of the 2nd finger def: "Absence of the proximal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009597 name: Short proximal phalanx of the 2nd finger alt_id: HP:0004124 def: "Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 2nd finger" EXACT [] synonym: "Short proximal index finger phalanx" EXACT [] synonym: "Short proximal phalanx of the second finger" EXACT [] is_a: HP:0009536 ! Short 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0010241 ! Short proximal phalanx of finger property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `proximal phalanx of the second finger` (FMA:23919)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009598 name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal created_by: doelkens creation_date: 2009-01-29T10:21:45Z [Term] id: HP:0009599 name: Abnormality of thumb epiphysis alt_id: HP:0004074 def: "Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). synonym: "Abnormality of the epiphyses of the thumb" EXACT [] synonym: "Abnormality of thumb epiphyses" EXACT [] is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T11:46:15Z [Term] id: HP:0009600 name: Flexion contracture of thumb alt_id: HP:0004061 alt_id: HP:0006043 def: "Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [HPO:probinson] synonym: "Contracture of thumb" EXACT [] synonym: "Flexion deformities of thumbs" EXACT [] synonym: "Joint contractures of the thumb" EXACT [] is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2009-01-29T01:06:31Z [Term] id: HP:0009601 name: Aplasia/Hypoplasia of the thumb alt_id: HP:0002950 alt_id: HP:0006225 def: "Hypoplastic/small or absent thumb." [HPO:probinson] synonym: "Absent or hypoplastic thumbs" EXACT [] synonym: "Absent/hypoplastic thumb" EXACT [] synonym: "Absent/hypoplastic thumbs" EXACT [] synonym: "Aplasia/hypoplasia of thumbs" EXACT [] synonym: "Aplastic/hypoplastic thumbs" EXACT [] synonym: "Hypoplastic to aplastic thumbs" EXACT [] synonym: "Hypoplastic/absent thumb" EXACT [] synonym: "Thumb aplasia/hypoplasia" EXACT [] is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers property_value: HP:0040005 "Hypoplastic/small or absent `thumb`(FMA:24938)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-29T01:08:24Z [Term] id: HP:0009602 name: Abnormality of thumb phalanx alt_id: HP:0004064 def: "A structural anomaly of one or more phalanges of the thumb." [HPO:probinson] synonym: "Abnormality of thumb phalanges" EXACT [] is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0005918 ! Abnormality of phalanx of finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-29T01:10:39Z [Term] id: HP:0009603 name: Deviation of the thumb alt_id: HP:0004062 def: "Displacement of the thumb from its normal position." [HPO:curators] synonym: "Deviated thumb" EXACT [] synonym: "Displacement of the thumb" EXACT [] is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0004097 ! Deviation of finger created_by: doelkens creation_date: 2009-01-29T01:49:57Z [Term] id: HP:0009606 name: Complete duplication of distal phalanx of the thumb alt_id: HP:0004084 alt_id: HP:0005784 def: "Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side." [HPO:curators] synonym: "Double thumb distal phalanges" EXACT [] synonym: "Duplicated terminal phalanx of thumb" EXACT [] synonym: "Duplication of distal thumb phalanx" EXACT [] synonym: "Duplication of terminal thumb phalanx" EXACT [] is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of thumb phalanx is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T03:28:16Z [Term] id: HP:0009608 name: Complete duplication of proximal phalanx of the thumb alt_id: HP:0004078 def: "Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of thumb phalanx is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T03:32:28Z [Term] id: HP:0009609 name: Duplication of the 1st metacarpal def: "Partail or complete duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side. synonym: "Partial/complete duplication of the 1st metacarpal" EXACT [] is_a: HP:0010006 ! Duplication of the proximal phalanx of hand is_a: HP:0010009 ! Abnormality of the 1st metacarpal property_value: HP:0040005 "Partail or complete duplication of the `first metacarpal bone` (FMA:23899)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-29T03:33:31Z [Term] id: HP:0009611 name: Bifid distal phalanx of the thumb alt_id: HP:0004086 alt_id: HP:0005703 alt_id: HP:0005827 alt_id: HP:0006090 def: "Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [HPO:sdoelken] synonym: "Bifid distal phalanx of thumb" EXACT [] synonym: "Bifid terminal phalanges of thumbs" EXACT [] synonym: "Incipient distal thumb phalanx duplication" EXACT [] synonym: "Notched terminal thumb phalanx" EXACT [] is_a: HP:0009612 ! Duplication of the distal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of thumb phalanx is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T03:48:49Z [Term] id: HP:0009612 name: Duplication of the distal phalanx of the thumb def: "Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [HPO:sdoelken] synonym: "Partial/complete duplication of the distal phalanx of the thumb" EXACT [] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009942 ! Duplication of thumb phalanx created_by: doelkens creation_date: 2009-01-29T03:51:43Z [Term] id: HP:0009613 name: Duplication of the proximal phalanx of the thumb def: "Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken] synonym: "Partial/complete duplication of the proximal phalanx of the thumb" EXACT [] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-01-29T03:59:56Z [Term] id: HP:0009614 name: Bifid proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] is_a: HP:0009613 ! Duplication of the proximal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of thumb phalanx is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T04:01:27Z [Term] id: HP:0009615 name: Complete duplication of the first metacarpal def: "Complete duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated. is_a: HP:0009609 ! Duplication of the 1st metacarpal is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `first metacarpal bone` (FMA:23899)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009616 name: Bifid first metacarpal def: "Partial duplication of the first metacarpal bone." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape. synonym: "partial duplication of the first metacarpal" EXACT [] is_a: HP:0009609 ! Duplication of the 1st metacarpal is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `first metacarpal bone` (FMA:23899)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009617 name: Abnormality of the distal phalanx of the thumb alt_id: HP:0004081 def: "Any anomaly of the distal phalanx of thumb." [HPO:probinson] synonym: "Abnormality of terminal thumb phalanx" EXACT [] is_a: HP:0009602 ! Abnormality of thumb phalanx property_value: HP:0040005 "Any anomaly of the `distal phalanx of thumb` (FMA:23945)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009618 name: Abnormality of the proximal phalanx of the thumb alt_id: HP:0004076 def: "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Abnormality of proximal thumb phalanx" EXACT [] is_a: HP:0009602 ! Abnormality of thumb phalanx created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009620 name: obsolete Radial deviation of the thumb alt_id: HP:0004063 synonym: "Radially deviated thumb" EXACT [] is_obsolete: true consider: HP:0009602 created_by: doelkens creation_date: 2009-01-29T04:35:09Z [Term] id: HP:0009621 name: obsolete Ulnar deviation of the thumb is_obsolete: true consider: HP:0009602 created_by: doelkens creation_date: 2009-01-29T04:35:51Z [Term] id: HP:0009622 name: Distally placed thumb alt_id: HP:0005755 def: "Insertion of thumb at a more distal location than normal." [HPO:probinson] is_a: HP:0009603 ! Deviation of the thumb created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009623 name: Proximal placement of thumb alt_id: HP:0001170 alt_id: HP:0005668 def: "Proximal mislocalization of the thumb." [HPO:probinson, pmid:19125433] comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. subset: hposlim_core synonym: "Low implantation of the thumb" EXACT [] synonym: "Proximally placed halluces" EXACT [] synonym: "Proximally placed thumbs" EXACT [] is_a: HP:0009603 ! Deviation of the thumb property_value: HP:0040005 "`Proximal mislocalization` (PATO:0002179) of the `thumb` (FMA:24938)." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009624 name: Contractures of the carpometacarpal joint of the thumb def: "Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint." [HPO:probinson] is_a: HP:0009600 ! Flexion contracture of thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009625 name: Contractures of the metacarpophalangeal joint of the thumb def: "Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis." [HPO:probinson] is_a: HP:0009600 ! Flexion contracture of thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009626 name: Contractures of the interphalangeal joint of the thumb alt_id: HP:0005697 def: "Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis." [HPO:probinson] synonym: "Interphalangeal extension contractures of thumbs" EXACT [] is_a: HP:0001220 ! Interphalangeal joint contracture of finger is_a: HP:0009600 ! Flexion contracture of thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009629 name: Aplasia/Hypoplasia of the proximal phalanx of the thumb def: "This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009630 name: Broad proximal phalanx of the thumb def: "Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009844 ! Broad middle phalanx of finger is_a: HP:0009852 ! Broad proximal phalanges of the hand is_a: HP:0011304 ! Broad thumb created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009631 name: Bullet-shaped proximal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected." [HPO:probinson] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009632 name: Curved proximal phalanx of the thumb def: "A deviation from the normal straight shape of the proximal phalanx of the thumb." [HPO:probinson] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx is_a: HP:0009846 ! Curved middle phalanges of the hand is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009633 name: Osteolytic defect of the proximal phalanx of the thumb def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb." [HPO:probinson] synonym: "Osteolytic defects of the proximal phalanx of the thumb" EXACT [] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defect of thumb phalanx is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009634 name: Patchy sclerosis of the proximal phalanx of the thumb def: "An uneven increase in bone density of the proximal phalanx of the thumb." [HPO:probinson] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx is_a: HP:0009848 ! Patchy sclerosis of middle phalanx of finger is_a: HP:0100913 ! Sclerosis of the proximal phalanx of the thumb created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009635 name: Synostosis of thumb phalanx def: "Fusion of a phalanx of the thumb with another bone." [HPO:probinson] is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009849 ! Symphalangism of middle phalanx of finger created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009636 name: Triangular shaped proximal phalanx of the thumb alt_id: HP:0004080 def: "Triangular shaped proximal phalanx of the thumb." [HPO:probinson] synonym: "Triangular proximal thumb phalanx" EXACT [] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped thumb phalanx is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009637 name: Absent proximal phalanx of thumb alt_id: HP:0004077 def: "Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Absent ossification/absent proximal thumb phalanx" EXACT [] synonym: "Aplasia of the proximal phalanx of the thumb" EXACT [] is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0010239 ! Aplasia of the middle phalanx of the hand created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009638 name: Short proximal phalanx of thumb alt_id: HP:0004079 alt_id: HP:0006073 def: "Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the thumb" EXACT [] synonym: "Short proximal phalanges of thumb" EXACT [] synonym: "Short proximal thumb phalanx" EXACT [] is_a: HP:0005819 ! Short middle phalanx of finger is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009660 ! Short phalanx of the thumb property_value: HP:0040005 "Hypoplastic (short) `proximal phalanx of the thumb` (FMA:23918). In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009640 name: Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal def: "Fusion of the proximal phalanx of the thumb with the 1st metacarpal." [HPO:probinson] is_a: HP:0005880 ! Metacarpophalangeal synostosis is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009635 ! Synostosis of thumb phalanx is_a: HP:0009703 ! Synostosis involving the 1st metacarpal created_by: doelkens creation_date: 2009-01-29T05:17:08Z [Term] id: HP:0009641 name: Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009642 name: Broad distal phalanx of the thumb alt_id: HP:0004088 alt_id: HP:0006198 def: "Increased width of the distal phalanx of thumb." [HPO:sdoelken] synonym: "Broad terminal thumb phalanx" EXACT [] synonym: "Wide distal phalanx of thumb" EXACT [] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009836 ! Broad distal phalanx of finger is_a: HP:0011304 ! Broad thumb property_value: HP:0040005 "Increased width of the `distal phalanx of thumb` (FMA:23945)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009643 name: Bullet-shaped distal phalanx of the thumb def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected." [HPO:probinson] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped thumb phalanx is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009644 name: Curved distal phalanx of the thumb def: "A deviation from the normal straight shape of the distal phalanx of the thumb." [HPO:probinson] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009653 ! Curved thumb phalanx is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009645 name: Osteolytic defect of the distal phalanx of the thumb def: "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb." [HPO:probinson] synonym: "Osteolytic defects of the distal phalanx of the thumb" EXACT [] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defect of thumb phalanx is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009646 name: Patchy sclerosis of the distal phalanx of the thumb def: "An uneven increase in bone density of the distal phalanx of the thumb." [HPO:probinson] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of thumb phalanx is_a: HP:0009840 ! Patchy sclerosis of distal phalanx of finger is_a: HP:0100912 ! Sclerosis of the distal phalanx of the thumb created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009648 name: Triangular shaped distal phalanx of the thumb def: "Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx." [HPO:probinson] is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped thumb phalanx is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009649 name: Aplasia of the distal phalanx of the thumb alt_id: HP:0004082 def: "Absence of the distal/terminal phalanx of the thumb." [HPO:curators] synonym: "Absent ossification/absent terminal thumb phalanx" EXACT [] is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0009881 ! Aplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009650 name: Short distal phalanx of the thumb alt_id: HP:0004085 alt_id: HP:0004087 def: "Hypoplastic (short) distal phalanx of the thumb." [HPO:sdoelken] synonym: "Hypoplastic terminal thumb phalanx" EXACT [] synonym: "Hypoplastic/small distal phalanx of the thumb" EXACT [] synonym: "Short terminal thumb phalanx" EXACT [] synonym: "Short thumb terminal phalanx" EXACT [] synonym: "Small terminal thumb phalanx" EXACT [] xref: UMLS:C1862313 "Short thumb terminal phalanx" is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009660 ! Short phalanx of the thumb is_a: HP:0009882 ! Short distal phalanx of finger property_value: HP:0040005 "Hypoplastic (short) `distal phalanx of the thumb` (FMA:23945)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009652 name: Bullet-shaped thumb phalanx def: "An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the thumb" EXACT [] is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009653 name: Curved thumb phalanx def: "A deviation from the normal straight shape of a thumb phalanx." [HPO:probinson] synonym: "Curved phalanges of the thumb" EXACT [] is_a: HP:0004095 ! Curved fingers is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009654 name: Osteolytic defect of thumb phalanx def: "Dissolution or degeneration of bone tissue of one or more phalanges of the thumb." [HPO:probinson] comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). synonym: "Osteolytic defects of the phalanges of the thumb" EXACT [] is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009655 name: Patchy sclerosis of thumb phalanx def: "An uneven increase in bone density of one or more of the phalanges of the thumb." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the thumb" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009656 name: Symphalangism of the thumb alt_id: HP:0004068 alt_id: HP:0009639 alt_id: HP:0009647 def: "Congenital fusion (ankylosis) of the interphalangeal joint of the thumb." [HPO:probinson, pmid:22379556] comment: Symphalangism is caused by a failure of segmentation that occurs during early fetal development. synonym: "Fused thumb phalanges" EXACT [] synonym: "Symphalangism of the distal and proximal phalanges of the thumb" EXACT [] is_a: HP:0001204 ! Distal symphalangism (hands) is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009635 ! Synostosis of thumb phalanx is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009657 name: Triangular shaped thumb phalanx alt_id: HP:0004072 def: "Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle." [HPO:probinson] comment: A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). synonym: "Triangular shaped phalanges of the thumb" EXACT [] synonym: "Triangular thumb phalanges" EXACT [] is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009658 name: Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009659 name: Partial absence of thumb alt_id: HP:0004065 def: "The absence of a phalangeal segment of a thumb." [pmid:probinson] synonym: "Aplasia of the phalanges of the thumb" RELATED [] is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009660 name: Short phalanx of the thumb alt_id: HP:0004069 alt_id: HP:0004071 def: "Hypoplastic (short) thumb phalanx." [HPO:probinson] synonym: "Hypoplastic thumb phalanges" EXACT [] synonym: "Hypoplastic/small phalanges of the thumb" EXACT [] synonym: "Short thumb phalanges" EXACT [] is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0009778 ! Short thumb property_value: HP:0040005 "Hypoplastic (short) `thumb phalanx` (FMA:35477)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009662 name: Abnormality of the epiphysis of the distal phalanx of the thumb alt_id: HP:0004089 def: "Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] synonym: "Abnormality of terminal thumb epiphysis" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009663 name: Abnormality of the epiphysis of the proximal phalanx of the thumb def: "This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009664 name: Absent epiphysis of the proximal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb is_a: HP:0010257 ! Absent epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009665 name: Bracket epiphysis of the proximal phalanx of the thumb def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:probinson] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb is_a: HP:0010258 ! Bracket epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009666 name: Cone-shaped epiphysis of the proximal phalanx of the thumb def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009667 name: Enlarged epiphysis of the proximal phalanx of the thumb def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009689 ! Enlarged thumb epiphysis is_a: HP:0010260 ! Enlarged epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009668 name: Fragmentation of the epiphysis of the proximal phalanx of the thumb def: "Epiphysis of the proximal phalanx of the thumb having multiple bony fragments." [HPO:probinson] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis is_a: HP:0010261 ! Fragmentation of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009669 name: Irregular epiphysis of the proximal phalanx of the thumb def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis is_a: HP:0010262 ! Irregular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009670 name: Ivory epiphysis of the proximal phalanx of the thumb def: "Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb is_a: HP:0010263 ! Ivory epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009671 name: Pseudoepiphysis of the proximal phalanx of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb." [HPO:probinson] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphysis of the thumb is_a: HP:0010264 ! Pseudoepiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009672 name: Small epiphysis of the proximal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis is_a: HP:0010265 ! Small epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009673 name: Stippling of the epiphysis of the proximal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis is_a: HP:0010266 ! Stippling of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009674 name: Triangular epiphysis of the proximal phalanx of the thumb def: "A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010267 ! Triangular epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009675 name: Absent epiphysis of the distal phalanx of the thumb def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009686 ! Absent epiphyses of the thumb is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009676 name: Bracket epiphysis of the distal phalanx of the thumb def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:probinson] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009687 ! Bracket epiphyses of the thumb is_a: HP:0010247 ! Bracket epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009677 name: Cone-shaped epiphysis of the distal phalanx of the thumb alt_id: HP:0004091 def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:probinson] synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT [] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphysis of the thumb is_a: HP:0010248 ! Cone-shaped epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009678 name: Enlarged epiphysis of the distal phalanx of the thumb alt_id: HP:0004092 def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:curators] synonym: "Large terminal thumb phalanx epiphysis" EXACT [] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009689 ! Enlarged thumb epiphysis is_a: HP:0010249 ! Enlarged epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009679 name: Fragmentation of the epiphysis of the distal phalanx of the thumb def: "Epiphysis of the distal phalanx of the thumb having multiple bony fragments." [HPO:probinson] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of thumb epiphysis is_a: HP:0010250 ! Fragmentation of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009680 name: Irregular epiphysis of the distal phalanx of the thumb def: "Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb." [HPO:probinson] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009691 ! Irregular thumb epiphysis is_a: HP:0010251 ! Irregular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009681 name: Ivory epiphysis of the distal phalanx of the thumb def: "Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphysis of the thumb is_a: HP:0010252 ! Ivory epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009682 name: Pseudoepiphysis of the distal phalanx of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb." [HPO:probinson] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphysis of the thumb is_a: HP:0010253 ! Pseudoepiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009683 name: Small epiphysis of the distal phalanx of the thumb def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms." [HPO:probinson] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009694 ! Small thumb epiphysis is_a: HP:0010254 ! Small epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009684 name: Stippling of the epiphysis of the distal phalanx of the thumb def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [HPO:probinson] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009695 ! Stippling of thumb epiphysis is_a: HP:0010255 ! Stippling of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009685 name: Triangular epiphysis of the distal phalanx of the thumb def: "A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010256 ! Triangular epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009686 name: Absent epiphyses of the thumb def: "Absence of one or more epiphyses of the thumb." [HPO:curators] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009687 name: Bracket epiphyses of the thumb def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009688 name: Cone-shaped epiphysis of the thumb alt_id: HP:0004075 def: "A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:probinson] synonym: "Cone-shaped epiphyses of the thumb" EXACT [] synonym: "Cone-shaped thumb epiphyses" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009689 name: Enlarged thumb epiphysis def: "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson] synonym: "Enlarged epiphyses of the thumb" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009690 name: Fragmentation of thumb epiphysis def: "Epiphysis of the thumb having multiple bony fragments." [HPO:probinson] synonym: "Fragmentation of the epiphyses of the thumb" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009691 name: Irregular thumb epiphysis def: "Uneven radiographic opacity of the one or more epiphyses of the thumb." [HPO:probinson] synonym: "Irregular epiphyses of the thumb" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009692 name: Ivory epiphysis of the thumb def: "Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:probinson] synonym: "Ivory epiphyses of the thumb" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0100922 ! Sclerosis of thumb phalanx created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009693 name: Pseudoepiphysis of the thumb def: "A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb." [HPO:probinson] synonym: "Pseudoepiphyses of the thumb" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009694 name: Small thumb epiphysis def: "Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms." [HPO:probinson] synonym: "Small epiphyses of the thumb" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009695 name: Stippling of thumb epiphysis def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb." [HPO:probinson] synonym: "Stippling of the epiphyses of the thumb" EXACT [] is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009696 name: Triangular epiphyses of the thumb is_a: HP:0009599 ! Abnormality of thumb epiphysis is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009697 name: Contracture of the distal interphalangeal joints of the fingers def: "Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers." [HPO:probinson] is_a: HP:0001220 ! Interphalangeal joint contracture of finger created_by: doelkens creation_date: 2009-01-30T04:01:28Z [Term] id: HP:0009699 name: Osteolytic defects of the hand bones alt_id: HP:0004282 alt_id: HP:0006082 synonym: "Lytic defects of hand bones" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0002797 ! Osteolysis created_by: doelkens creation_date: 2009-01-30T04:08:52Z [Term] id: HP:0009700 name: Synostosis involving bones of the fingers def: "An abnormal union between bones or parts of bones of the fingers. The synonymous term \"symphalangism of the hand\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are revered to as \"Symphalangism\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are refered to as \"bony\" Syndactyly." [HPO:sdoelken] synonym: "Symphalangism of the hand" EXACT [HPO:curators] is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2009-01-30T04:12:24Z [Term] id: HP:0009701 name: Metacarpal synostosis alt_id: HP:0005915 alt_id: HP:0006041 def: "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:probinson] subset: hposlim_core synonym: "Synostosis involving metacarpal bones" EXACT [] synonym: "Synostosis involving the metacarpal bones" EXACT [] is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals created_by: doelkens creation_date: 2009-01-30T04:13:07Z [Term] id: HP:0009702 name: Carpal synostosis alt_id: HP:0001192 alt_id: HP:0005799 def: "Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform)." [HPO:probinson] subset: hposlim_core synonym: "Carpal bone fusion" EXACT [] synonym: "Carpal fusion" EXACT [] synonym: "Fused carpal bones" EXACT [] synonym: "Synostosis involving the carpal bones" EXACT [] xref: UMLS:C1836220 "Fused carpal bones" is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0004278 ! Synostosis involving bones of the hand is_a: HP:0100266 ! Synostosis of carpals/tarsals created_by: doelkens creation_date: 2009-01-30T04:25:10Z [Term] id: HP:0009703 name: Synostosis involving the 1st metacarpal alt_id: HP:0005614 alt_id: HP:0010032 def: "Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "First metacarpophalangeal joint synostosis" EXACT [] synonym: "Symphalangism affecting the 1st metacarpal" EXACT [] is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-01-30T04:26:41Z [Term] id: HP:0009704 name: Chronic CSF lymphocytosis def: "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [HPO:probinson] is_a: HP:0200149 ! CSF lymphocytic pleiocytosis created_by: peter creation_date: 2009-01-30T06:24:59Z [Term] id: HP:0009705 name: Synostosis involving the 2nd metacarpal is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010010 ! Abnormality of the 2nd metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009706 name: Synostosis involving the 3rd metacarpal is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010011 ! Abnormality of the 3rd metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009707 name: Synostosis involving the 4th metacarpal is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010012 ! Abnormality of the 4th metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009708 name: Synostosis involving the 5th metacarpal is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0010013 ! Abnormality of the 5th metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009709 name: Increased CSF interferon alpha def: "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [HPO:curators] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: peter creation_date: 2009-01-30T06:27:06Z [Term] id: HP:0009710 name: Chilblain lesions def: "Chilblains are acral ulcers." [HPO:curators] is_a: HP:0001167 ! Abnormality of finger created_by: peter creation_date: 2009-01-30T07:26:24Z [Term] id: HP:0009711 name: Retinal hemangioblastoma def: "Retinal hemangioblastoma is a benign vascular tumor of the retina without any neoplastic characteristics. They have been called \"retinal angiomas\" and \"retinal hemangiomas\" but hemangioblastoma is the preferred term since they are histologically identical to lesions found in the CNS." [HPO:probinson] subset: hposlim_core xref: UMLS:C1514915 "Retinal Hemangioblastoma" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0001028 ! Hemangioma is_a: HP:0010797 ! Hemangioblastoma created_by: peter creation_date: 2009-01-30T11:08:05Z [Term] id: HP:0009713 name: Spinal hemangioblastoma def: "A 'hemangioblastoma of the spinal cord." [HPO:curators] is_a: HP:0010302 ! Spinal cord tumor is_a: HP:0010797 ! Hemangioblastoma property_value: HP:0040005 "A 'hemangioblastoma` (HP:0010797) of the `spinal cord` (FMA:7647)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-01-30T11:24:31Z [Term] id: HP:0009714 name: Abnormality of the epididymis def: "An abnormality of the epididymis." [HPO:probinson] comment: The epididymis is the structure that connects efferent ductules to vas deferens. is_a: HP:0000022 ! Abnormality of male internal genitalia property_value: HP:0040005 "An abnormality of the `epididymis` (FMA:18255)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-30T11:44:43Z [Term] id: HP:0009715 name: Papillary cystadenoma of the epididymis def: "The presence of a papillary cystadenoma of the epididymis." [HPO:probinson] comment: Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis. is_a: HP:0009714 ! Abnormality of the epididymis property_value: HP:0040005 "The presence of a `papillary cystadenoma` (MPATH:298) of the `epididymis` (FMA:18255)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-30T11:46:33Z [Term] id: HP:0009716 name: Subependymal nodules def: "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter." [HPO:curators] xref: UMLS:C1968958 "Subependymal nodules" is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0009731 ! Cerebral hamartomata created_by: peter creation_date: 2009-01-30T11:57:28Z [Term] id: HP:0009717 name: Cortical tubers def: "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [HPO:curators] xref: UMLS:C1968959 "Cortical tubers" is_a: HP:0002538 ! Abnormality of the cerebral cortex is_a: HP:0009731 ! Cerebral hamartomata created_by: peter creation_date: 2009-01-31T12:03:16Z [Term] id: HP:0009718 name: Subependymal giant-cell astrocytoma def: "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis." [HPO:curators] xref: UMLS:C0205768 "Subependymal Giant Cell Astrocytoma" is_a: HP:0009592 ! Astrocytoma created_by: peter creation_date: 2009-01-31T12:07:02Z [Term] id: HP:0009719 name: Hypomelanotic macules def: "Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [HPO:probinson, pmid:10695583] is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0012733 ! Macule created_by: peter creation_date: 2009-01-31T12:16:52Z [Term] id: HP:0009720 name: Adenoma sebaceum def: "The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin." [HPO:probinson] comment: Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis. synonym: "Facial angiofibromas" EXACT [] synonym: "Sebaceous adenoma" EXACT [] synonym: "SEBACEOUS ADENOMAS" RELATED [HPO:skoehler] xref: UMLS:C0265319 "Adenoma sebaceum" is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010615 ! Angiofibromas is_a: HP:0011799 ! Abnormality of facial soft tissue property_value: HP:0040005 "The presence of a `sebaceous adenoma` (MPATH:230) with origin in the `sebum secreting cells` (CL:000031) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T12:19:37Z [Term] id: HP:0009721 name: Shagreen patch def: "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather." [HPO:curators, pmid:10695583] subset: hposlim_core xref: SNOMEDCT:254244007 "Shagreen patch" xref: UMLS:C0432363 "Shagreen patch" is_a: HP:0100898 ! Connective tissue nevi created_by: peter creation_date: 2009-01-31T09:36:32Z [Term] id: HP:0009722 name: Dental enamel pits def: "The presence of small depressions in the dental enamel." [HPO:curators] synonym: "Dental enamel pitting" EXACT [] is_a: HP:0000682 ! Abnormality of dental enamel created_by: peter creation_date: 2009-01-31T09:44:34Z [Term] id: HP:0009723 name: Abnormality of the subungual region def: "A lesion located beneath a fingernail or toenail." [HPO:curators] is_a: HP:0001597 ! Abnormality of the nail created_by: peter creation_date: 2009-01-31T09:49:06Z [Term] id: HP:0009724 name: Subungual fibromas def: "The presence of fibromata beneath finger or toenails." [HPO:curators] synonym: "Subungual fibroma" RELATED [] xref: UMLS:C0266003 "Subungual fibromata" is_a: HP:0009723 ! Abnormality of the subungual region is_a: HP:0010614 ! Fibroma created_by: peter creation_date: 2009-01-31T09:49:51Z [Term] id: HP:0009725 name: Bladder neoplasm def: "The presence of a neoplasm of the urinary bladder." [HPO:probinson] synonym: "Bladder tumor" RELATED [] xref: MeSH:D001749 "Urinary Bladder Neoplasms" xref: UMLS:C0005695 "Bladder Tumors" is_a: HP:0010786 ! Urinary tract neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T10:43:55Z [Term] id: HP:0009726 name: Renal neoplasm alt_id: HP:0005933 def: "The presence of a neoplasm of the kidney." [HPO:probinson] synonym: "Kidney cancer" BROAD [] synonym: "Neoplasia of the kidneys" EXACT [] synonym: "Renal neoplasia" RELATED [] synonym: "Renal tumors" EXACT [] xref: MeSH:D007680 "Kidney Neoplasms" xref: UMLS:C0740457 "kidney cancer" is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0010786 ! Urinary tract neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T10:41:48Z [Term] id: HP:0009727 name: Achromatic retinal patches def: "Areas of the retina lacking pigmentation." [HPO:probinson] xref: UMLS:C1860710 "Achromatic retinal patches" is_a: HP:0007894 ! Hypopigmentation of the fundus created_by: peter creation_date: 2009-01-31T10:49:15Z [Term] id: HP:0009728 name: Neoplasm of striated muscle def: "A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle." [HPO:sdoelken] synonym: "Tumors of striated muscle" EXACT [] is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A benign or malignant `neoplasm` (MPATH:218) (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle." xsd:string {xref="HPO:sdoelken"} created_by: peter creation_date: 2009-01-31T10:52:25Z [Term] id: HP:0009729 name: Cardiac rhabdomyoma def: "A benign tumor of cardiac striated muscle." [HPO:curators] xref: UMLS:C1332852 "Cardiac rhabdomyoma" is_a: HP:0009730 ! Rhabdomyoma is_a: HP:0100544 ! Neoplasm of the heart created_by: peter creation_date: 2009-01-31T10:53:11Z [Term] id: HP:0009730 name: Rhabdomyoma def: "A benign tumor of striated muscle." [HPO:probinson] xref: MeSH:D012207 "Rhabdomyoma" xref: UMLS:C0035411 "Rhabdomyoma" is_a: HP:0009728 ! Neoplasm of striated muscle created_by: peter creation_date: 2009-01-31T10:54:01Z [Term] id: HP:0009731 name: Cerebral hamartomata def: "The presence of a hamartoma of the cerebrum." [HPO:probinson] comment: Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum. xref: UMLS:C0018552 "Hamartomas" is_a: HP:0010566 ! Hamartoma is_a: HP:0100835 ! Benign neoplasm of the central nervous system property_value: HP:0040005 "The presence of a `hamartoma` (HP:0010566) of the `cerebrum` (FMA:62000)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T11:02:09Z [Term] id: HP:0009732 name: Plexiform neurofibroma def: "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." [HPO:curators] xref: MeSH:D018318 "Neurofibroma, Plexiform" xref: UMLS:C0206728 "Plexiform Neurofibroma" is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:12:32Z [Term] id: HP:0009733 name: Glioma def: "The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes)." [HPO:probinson] comment: Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas. xref: MeSH:D005910 "Glioma" xref: UMLS:C0017638 "Glioma" is_a: HP:0030063 ! Neuroepithelial neoplasm is_a: HP:0100705 ! Abnormality of the glial cells is_a: HP:0100836 ! Malignant neoplasm of the central nervous system property_value: HP:0040005 "The presence of a `glioma` (MPATH:249), which is a `neoplasm` (MPATH:218) of the `central nervous system` (FMA:55675) originating from a glial cell (astrocytes or oligodendrocytes)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T11:15:22Z [Term] id: HP:0009734 name: Optic glioma def: "A glioma originating in the optic nerve or optic chiasm." [HPO:curators] xref: MeSH:D020339 "Optic Nerve Glioma" xref: UMLS:C0346326 "Optic Glioma" is_a: HP:0009733 ! Glioma property_value: HP:0040005 "A `glioma` (HP:0009733) originating in the `optic nerve` (FMA:50863) or `optic chiasm` (FMA:62045)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-01-31T11:17:13Z [Term] id: HP:0009735 name: Spinal neurofibromas alt_id: HP:0007077 def: "Neurofibromas originating in the spine." [HPO:probinson] comment: Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels. is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:19:24Z [Term] id: HP:0009736 name: Tibial pseudoarthrosis def: "Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [HPO:curators] is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0005864 ! Pseudoarthrosis created_by: peter creation_date: 2009-01-31T11:22:24Z [Term] id: HP:0009737 name: Lisch nodules def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.." [HPO:probinson] subset: hposlim_core synonym: "Iris hamartomas" EXACT [] xref: UMLS:C1860334 "Lisch nodules" is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0010568 ! Hamartoma of the eye property_value: HP:0040005 "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the `iris` (FMA:58235).." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T11:45:04Z [Term] id: HP:0009738 name: Abnormality of the antihelix def: "An abnormality of the antihelix." [HPO:probinson] comment: An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis. subset: hposlim_core synonym: "Abnormal antehelix" EXACT [] synonym: "Abnormal anthelix" EXACT [] synonym: "Abnormal antihelix" EXACT [] is_a: HP:0000377 ! Abnormality of the pinna property_value: HP:0040005 "An abnormality of the `antihelix` (FMA:60995)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T12:39:37Z [Term] id: HP:0009739 name: Hypoplasia of the antihelix def: "Developmental hypoplasia of the antihelix." [HPO:probinson] synonym: "Hypoplastic antihelix" EXACT [] is_a: HP:0009738 ! Abnormality of the antihelix property_value: HP:0040005 "Developmental hypoplasia of the `antihelix` (FMA:60995)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-01-31T12:41:43Z [Term] id: HP:0009740 name: Aplasia of the parotid gland def: "Absence of the parotid gland." [HPO:curators] synonym: "Absence of the parotid gland" RELATED [] is_a: HP:0000197 ! Abnormality of parotid gland created_by: peter creation_date: 2009-01-31T12:51:47Z [Term] id: HP:0009741 name: Nephrosclerosis def: "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [HPO:curators] xref: MeSH:D009400 "Nephrosclerosis" xref: UMLS:C0027719 "Nephrosclerosis" is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2009-01-31T01:15:08Z [Term] id: HP:0009742 name: Stiff shoulders def: "Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity." [HPO:curators] xref: UMLS:C0241042 "Stiff shoulders" is_a: HP:0001387 ! Joint stiffness is_a: HP:0003043 ! Abnormality of the shoulder created_by: peter creation_date: 2009-01-31T02:02:05Z [Term] id: HP:0009743 name: Distichiasis def: "Double rows of eyelashes." [HPO:probinson] comment: Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. subset: hposlim_core synonym: "Distichiasis of eyelid eyelashes" EXACT [] xref: SNOMEDCT:95339000 "Distichiasis" xref: UMLS:C0423848 "Distichiasis" is_a: HP:0008496 ! Multiple rows of eyelashes created_by: peter creation_date: 2009-01-31T02:07:50Z [Term] id: HP:0009744 name: Abnormality of the spinal dura mater def: "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord." [HPO:curators] is_a: HP:0010303 ! Abnormality of the spinal meninges is_a: HP:0010652 ! Abnormality of the dura mater created_by: peter creation_date: 2009-01-31T02:20:51Z [Term] id: HP:0009745 name: Spinalarachnoid cyst def: "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space." [HPO:probinson] synonym: "Epidural arachnoid cysts of the spinal canal" EXACT [] is_a: HP:0010303 ! Abnormality of the spinal meninges is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2009-01-31T02:22:38Z [Term] id: HP:0009746 name: Thick nasal septum def: "Abnormally increased thickness of the nasal septum." [HPO:curators] xref: UMLS:C1844810 "Thick nasal septum" is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2009-01-31T02:44:09Z [Term] id: HP:0009747 name: Lumbosacral hirsutism def: "Abnormally increased hair growth in the lumbosacral region." [HPO:curators] xref: UMLS:C1851095 "Lumbosacral hirsutism" is_a: HP:0009889 ! Localized hirsutism created_by: peter creation_date: 2009-01-31T03:21:52Z [Term] id: HP:0009748 name: Large earlobe alt_id: HP:0004449 alt_id: HP:0004456 def: "Increased volume of the earlobe, that is, abnormally prominent ear lobules." [HPO:probinson, pmid:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood. subset: hposlim_core synonym: "Fleshy earlobe" EXACT [] synonym: "Fleshy earlobes" EXACT [] synonym: "Prominent ear lobes" EXACT [] synonym: "prominent ear lobules" EXACT [] xref: UMLS:C1844573 "Fleshy earlobes" is_a: HP:0000363 ! Abnormality of earlobe property_value: HP:0040005 "Increased volume of the earlobe, that is, abnormally prominent `ear lobules` (FMA:60984)." xsd:string {xref="HPO:probinson", xref="pmid:19152421"} created_by: peter creation_date: 2009-01-31T04:02:42Z [Term] id: HP:0009751 name: Aplasia of the pectoralis major muscle def: "Absence of the pectoralis major muscle." [HPO:curators] is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-01-31T05:18:55Z [Term] id: HP:0009752 name: Cleft in skull base def: "A bony defect in the skull base." [HPO:curators] is_a: HP:0002693 ! Abnormality of the skull base created_by: peter creation_date: 2009-01-31T05:45:00Z [Term] id: HP:0009754 name: Fibrous syngnathia def: "Complete or nearly complete soft tissue fusion of the alveolar ridges." [pmid:19125428] comment: This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae. subset: hposlim_core synonym: "Fusion of the alveolar ridges" EXACT [] xref: UMLS:C1861546 "Syngnathia" is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0006477 ! Abnormality of the alveolar ridges created_by: peter creation_date: 2009-01-31T08:50:29Z [Term] id: HP:0009755 name: Ankyloblepharon def: "Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue." [pmid:18125427] comment: A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. subset: hposlim_core synonym: "Ankyloblepharon filiforme adnatum" EXACT [] synonym: "Eyelid synechiae" EXACT [] xref: UMLS:C0339182 "Ankyloblepharon" is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2009-01-31T08:52:59Z [Term] id: HP:0009756 name: Popliteal pterygium def: "A pterygium (or pterygia) occuring in the popliteal region (the back of the knee)." [HPO:probinson] subset: hposlim_core xref: UMLS:C1861547 "Popliteal pterygium" is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T08:54:18Z [Term] id: HP:0009757 name: Intercrural pterygium def: "A pterygium (or pterygia) in the intercrural (groin) region." [HPO:curators] xref: UMLS:C1861548 "Intercrural pterygium" is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T08:58:49Z [Term] id: HP:0009758 name: Pyramidal skinfold extending from the base to the top of the nails def: "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome." [HPO:curators] is_a: HP:0001597 ! Abnormality of the nail created_by: peter creation_date: 2009-01-31T09:08:49Z [Term] id: HP:0009759 name: Neck pterygia def: "Pterygia affecting the neck." [HPO:curators] xref: UMLS:C1849577 "Neck pterygia" is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T10:10:09Z [Term] id: HP:0009760 name: Antecubital pterygium def: "Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric." [HPO:probinson] subset: hposlim_core synonym: "Pterygium cubitale" EXACT [] synonym: "Webbed elbow" EXACT [] is_a: HP:0001059 ! Pterygium created_by: peter creation_date: 2009-01-31T10:12:24Z [Term] id: HP:0009761 name: Anterior clefting of vertebral bodies def: "Anterior schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson] is_a: HP:0008428 ! Vertebral clefting created_by: peter creation_date: 2009-01-31T10:40:39Z [Term] id: HP:0009762 name: Facial wrinkling def: "Excessive wrinkling of the skin of the face." [HPO:curators] xref: UMLS:C0262478 "Facial wrinkling" is_a: HP:0100678 ! Premature skin wrinkling created_by: peter creation_date: 2009-02-01T03:12:09Z [Term] id: HP:0009763 name: Limb pain def: "Chronic pain in the limbs with no clear focal etiology." [HPO:probinson] synonym: "Pain in extremities" RELATED [] xref: UMLS:C0030196 "LIMB PAIN" is_a: HP:0011843 ! Abnormality of skeletal physiology created_by: peter creation_date: 2009-02-01T03:55:10Z [Term] id: HP:0009765 name: Low hanging columella alt_id: HP:0009766 def: "Columella extending inferior to the level of the nasal base, when viewed from the side." [pmid:19152422] synonym: "Columella extends below the ala nasi" RELATED [] synonym: "Columella, low" EXACT [] synonym: "Columella, low hanging" EXACT [] synonym: "Extension of the columella below the ala nasi" EXACT [] synonym: "Low-hanging columella" EXACT [] is_a: HP:0009929 ! Abnormality of the columella created_by: peter creation_date: 2009-02-01T11:01:14Z [Term] id: HP:0009767 name: Aplasia/Hypoplasia of the phalanges of the hand alt_id: HP:0006056 alt_id: HP:0006100 alt_id: HP:0009801 def: "Small or missing phalangeal bones of the fingers of the hand." [HPO:probinson] synonym: "Aplastic/hypoplastic phalanges" EXACT [] synonym: "Aplastic/hypoplastic phalanges of the hand" EXACT [] synonym: "Hypoplastic/absent phalanges" EXACT [] is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009768 name: Broad phalanges of the hand alt_id: HP:0001246 alt_id: HP:0006260 def: "Increased width of the phalanges of the hand." [HPO:curators] synonym: "Widening of phalanges of the hand" EXACT [] xref: UMLS:C1842230 "Broad phalanges" is_a: HP:0001500 ! Broad finger is_a: HP:0005918 ! Abnormality of phalanx of finger is_a: HP:0006009 ! Broad phalanx created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009769 name: Bullet-shaped phalanges of the hand alt_id: HP:0004270 alt_id: HP:0006139 def: "The presence of short and wide phalanges which taper distally (\"bullet shaped\")." [HPO:curators] synonym: "Bullet-shaped phalanges of the hands" EXACT [] synonym: "Conical bullet-shaped distal ends of phalanges" EXACT [] is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009770 name: Curved phalanges of the hand is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009771 name: Osteolytic defects of the phalanges of the hand alt_id: HP:0001179 def: "Dissolution or degeneration of bone tissue of the phalanges of the hand." [HPO:curators] synonym: "Acro-osteolysis" EXACT [] synonym: "Acroosteolysis" EXACT [] xref: UMLS:C0917990 "Acro-Osteolysis" is_a: HP:0005918 ! Abnormality of phalanx of finger is_a: HP:0009699 ! Osteolytic defects of the hand bones created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009772 name: Patchy sclerosis of finger phalanx alt_id: HP:0006071 def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the hand" EXACT [] synonym: "Phalangeal sclerosis" EXACT [] xref: UMLS:C1857508 "Phalangeal sclerosis" is_a: HP:0004286 ! Patchy sclerosis of hand bones is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0100899 ! Sclerosis of finger phalanx created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009773 name: Symphalangism affecting the phalanges of the hand alt_id: HP:0006258 def: "Fusion of two or more phalangeal bones of the hand." [HPO:curators] synonym: "Synostosis involving phalanges of the hand" EXACT [] is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009774 name: Triangular shaped phalanges of the hand alt_id: HP:0006085 alt_id: HP:0009874 synonym: "Delta phalanx/delta-like phalanx" EXACT [] is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009775 name: Amniotic constriction ring alt_id: HP:0001078 def: "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands." [HPO:probinson] comment: Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. synonym: "Amniotic bands" EXACT [] synonym: "Amniotic constriction band" RELATED [] synonym: "Pseudoainhum" EXACT [] xref: UMLS:C1527388 "Amniotic Bands" is_a: HP:0011409 ! Abnormality of placental membranes created_by: doelkens creation_date: 2009-02-02T05:36:41Z [Term] id: HP:0009776 name: Adactyly def: "The absence of all phalanges of all the digits of a limb and the associated soft tissues." [pmid:19125433] comment: This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly. subset: hposlim_core synonym: "Aphalangy" EXACT [] xref: UMLS:C0238591 "Adactyly" is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-02-02T05:44:39Z [Term] id: HP:0009777 name: Absent thumb alt_id: HP:0001185 alt_id: HP:0002802 alt_id: HP:0009627 def: "Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Absent thumbs" EXACT [] synonym: "Aplasia of the thumb" EXACT [] synonym: "Thumb aplasia" EXACT [] xref: SNOMEDCT:302218003 "Thumb absent" xref: UMLS:C0241391 "Absent thumb" is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb property_value: HP:0040005 "Absent `thumb`(FMA:24938), i.e., the absence of both phalanges of a thumb and the associated soft tissues." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009778 name: Short thumb alt_id: HP:0001183 alt_id: HP:0001186 alt_id: HP:0001589 alt_id: HP:0005699 alt_id: HP:0006151 alt_id: HP:0009628 def: "Hypoplasia (congenital reduction in size) of the thumb." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic thumb" EXACT [] synonym: "Hypoplastic thumbs" EXACT [] synonym: "Hypoplastic/small thumb" EXACT [] synonym: "Short thumbs" EXACT [] synonym: "Small thumbs" EXACT [] synonym: "Thumb brachydactyly" EXACT [] synonym: "Thumb hypoplasia" EXACT [] xref: UMLS:C1849182 "Short thumbs" xref: UMLS:C1861393 "thumb brachydactyly" is_a: HP:0009381 ! Short finger is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb property_value: HP:0040005 "Hypoplasia (congenital reduction in size) of the `thumb` (FMA:24938)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009779 name: 3-4 toe syndactyly alt_id: HP:0004708 def: "Syndactyly with fusion of toes three and four." [HPO:sdoelken] synonym: "syndactyly of 3rd - 4th toes" EXACT [] is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes three and four." xsd:string {xref="HPO:sdoelken"} created_by: peter creation_date: 2009-02-03T04:43:16Z [Term] id: HP:0009780 name: Iliac horns def: "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic." [HPO:curators] xref: UMLS:C0263925 "iliac horns" is_a: HP:0003796 ! Irregular iliac crest created_by: peter creation_date: 2009-02-03T04:48:00Z [Term] id: HP:0009781 name: Lester's sign def: "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape." [HPO:probinson] is_a: HP:0001100 ! Heterochromia iridis property_value: HP:0040005 "A zone of darker pigmentation around the central part of the `iris` (FMA:58235) with a roughly cloverleaf or flower shape." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-02-03T04:50:17Z [Term] id: HP:0009782 name: Aplasia/Hypoplasia of the biceps def: "Absence or underdevelopment of the biceps muscle." [HPO:curators] is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter creation_date: 2009-02-03T04:52:01Z [Term] id: HP:0009783 name: Biceps aplasia def: "Absence of the biceps muscle." [HPO:curators] xref: UMLS:C1834394 "Biceps aplasia" is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-02-03T04:57:47Z [Term] id: HP:0009784 name: Aplasia/Hypoplasia of the triceps def: "Absence or underdevelopment of the triceps muscle." [HPO:curators] is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter creation_date: 2009-02-03T04:58:31Z [Term] id: HP:0009785 name: Triceps aplasia def: "Absence of the triceps muscle." [HPO:curators] xref: UMLS:C1834395 "Triceps aplasia" is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-02-03T05:15:21Z [Term] id: HP:0009786 name: Aplasia/Hypoplasia of the musculature of the thigh def: "Absence or underdevelopment involving the musculature of the thigh." [HPO:curators] is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities created_by: peter creation_date: 2009-02-03T05:16:42Z [Term] id: HP:0009787 name: Aplasia/Hypoplasia of the quadriceps def: "Absence or underdevelopment of the quadriceps muscle." [HPO:curators] is_a: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh created_by: peter creation_date: 2009-02-03T05:17:40Z [Term] id: HP:0009788 name: Quadriceps aplasia def: "Absence of the quadriceps muscle." [HPO:curators] xref: UMLS:C1834396 "Quadriceps aplasia" is_a: HP:0009787 ! Aplasia/Hypoplasia of the quadriceps is_a: HP:0100854 ! Aplasia of the musculature created_by: peter creation_date: 2009-02-03T05:18:11Z [Term] id: HP:0009789 name: Perianal abscess def: "The presence of an abscess located around the anus." [HPO:curators] xref: UMLS:C0031019 "Perianal abscess" is_a: HP:0004378 ! Abnormality of the anus is_a: HP:0100838 ! Recurrent cutaneous abscess formation created_by: peter creation_date: 2009-02-03T05:19:42Z [Term] id: HP:0009790 name: Hemisacrum (S2-S5) def: "A hemisacral defect involving the sacral vertebrae S2 to S5." [HPO:curators] is_a: HP:0005107 ! Abnormality of the sacrum created_by: peter creation_date: 2009-02-03T05:21:37Z [Term] id: HP:0009791 name: Bifid sacrum def: "Presence of a bifid sacral bone." [HPO:probinson] is_a: HP:0005107 ! Abnormality of the sacrum property_value: HP:0040005 "Presence of a `bifid` (PATO:0001572) `sacral bone` (FMA:16202)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-02-03T05:22:25Z [Term] id: HP:0009792 name: Teratoma def: "The presence of a teratoma." [HPO:probinson] comment: Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations. xref: MeSH:D013724 "Teratoma" xref: UMLS:C0039538 "Teratoma" is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0100728 ! Germ cell neoplasia property_value: HP:0040005 "The presence of a `teratoma` (MPATH:322)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-02-03T05:23:03Z [Term] id: HP:0009793 name: Presacral teratoma def: "Presence of a teratoma anterior to the sacrum." [HPO:curators] comment: Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx. xref: UMLS:C1867782 "Presacral teratoma" is_a: HP:0005107 ! Abnormality of the sacrum is_a: HP:0009792 ! Teratoma created_by: peter creation_date: 2009-02-03T05:23:57Z [Term] id: HP:0009794 name: Branchial anomaly def: "Congenital developmental defect arising from the primitive branchial apparatus." [HPO:sdoelken] comment: During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck. subset: hposlim_core synonym: "Branchial anomalies" EXACT [] xref: UMLS:C1862066 "Branchial anomalies" is_a: HP:0000464 ! Abnormality of the neck created_by: peter creation_date: 2009-02-11T05:16:20Z [Term] id: HP:0009795 name: Branchial fistula def: "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [HPO:sdoelken] subset: hposlim_core synonym: "Branchial cleft fistula" EXACT [] xref: SNOMEDCT:204268008 "Fistula of branchial cleft" xref: UMLS:C0546968 "Branchial cleft fistula" is_a: HP:0009794 ! Branchial anomaly created_by: peter creation_date: 2009-02-11T05:17:12Z [Term] id: HP:0009796 name: Branchial cyst def: "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region." [HPO:sdoelken] comment: Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. synonym: "Branchial cleft cyst" RELATED [] xref: UMLS:C0006131 "Branchial Cyst" is_a: HP:0009794 ! Branchial anomaly created_by: peter creation_date: 2009-02-11T05:18:08Z [Term] id: HP:0009797 name: Cholesteatoma def: "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear." [HPO:curators] xref: MeSH:D002781 "Cholesteatoma" xref: UMLS:C0008373 "Cholesteatoma" is_a: HP:0008609 ! Morphological abnormality of the middle ear is_a: HP:0100799 ! Neoplasm of the middle ear created_by: peter creation_date: 2009-02-11T05:20:04Z [Term] id: HP:0009798 name: Euthyroid goiter def: "A goiter that is not associated with functional thyroid abnormalities." [HPO:probinson] xref: UMLS:C0302859 "Euthyroid goitre" is_a: HP:0000853 ! Goiter property_value: HP:0040005 "A `goiter` (HP:0000853) that is not associated with functional thyroid abnormalities." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-02-11T05:21:23Z [Term] id: HP:0009799 name: Supernumerary spleens def: "The presence of two or more accessory spleens." [HPO:curators] xref: UMLS:C0266631 "Supernumerary spleen" is_a: HP:0001743 ! Abnormality of the spleen created_by: peter creation_date: 2009-02-11T05:44:01Z [Term] id: HP:0009800 name: Maternal diabetes def: "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [HPO:curators] synonym: "gestational diabetes" EXACT [] synonym: "maternal hyperglycemia" NARROW [] xref: MeSH:D016640 "Diabetes, Gestational" xref: UMLS:C0085207 "Maternal diabetes" is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0002686 ! Prenatal maternal abnormality created_by: doelkens creation_date: 2009-02-12T05:44:58Z [Term] id: HP:0009802 name: Aplasia of the phalanges of the hand def: "Absence of one or more of the phalanges of the hand." [HPO:curators] is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009823 ! Aplasia involving bones of the upper limbs created_by: doelkens creation_date: 2009-02-12T05:56:07Z [Term] id: HP:0009803 name: Short phalanx of finger alt_id: HP:0001168 alt_id: HP:0005771 alt_id: HP:0006087 alt_id: HP:0006126 def: "Short (hypoplastic) phalanx of finger, affecting one or more phalanges." [HPO:sdoelken] synonym: "Hypoplastic phalanges" EXACT [] synonym: "Hypoplastic phalanges of hands" EXACT [] synonym: "Hypoplastic/small phalanges of the hand" EXACT [] synonym: "Phalangeal hypoplasia" EXACT [] synonym: "Rudimentary phalanges" EXACT [] synonym: "Short fingers" EXACT [] synonym: "Short phalanges" EXACT [] synonym: "Shortened phalanges" EXACT [] xref: UMLS:C1837680 "Short phalanges" is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand property_value: HP:0040005 "Short (hypoplastic) `phalanx of finger` (FMA:23914), affecting one or more phalanges." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-02-12T05:57:11Z [Term] id: HP:0009804 name: Reduced number of teeth def: "The presence of a reduced number of teeth as in Hypodontia or as in Anodontia." [HPO:sdoelken] comment: Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia). is_a: HP:0006483 ! Abnormal number of teeth property_value: HP:0040005 "The presence of a `reduced number` (PATO:0001997) of `teeth` (FMA:12516) as in `Hypodontia` (HP:0000668) or as in `Anodontia` (HP:0000674)." xsd:string {xref="HPO:sdoelken"} creation_date: 2009-02-14T06:20:53Z [Term] id: HP:0009805 name: Low-output congestive heart failure def: "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes." [HPO:curators] is_a: HP:0001635 ! Congestive heart failure created_by: peter creation_date: 2009-02-16T11:10:18Z [Term] id: HP:0009806 name: Nephrogenic diabetes insipidus def: "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [HPO:curators] xref: UMLS:C0162283 "Diabetes Insipidus, Nephrogenic" is_a: HP:0000873 ! Diabetes insipidus created_by: peter creation_date: 2009-02-16T11:23:28Z [Term] id: HP:0009808 name: Anomaly of the upper limb diaphyses alt_id: HP:0003857 def: "A structural abnormality of a diaphysis of the arm." [UToronto:htrang] synonym: "Abnormality involving the diaphyses of the upper limbs" EXACT [] synonym: "Diaphyseal abnormality of the upper limbs" EXACT [] is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006504 ! Anomaly of the limb diaphyses created_by: doelkens creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009809 name: Abnormality of upper limb metaphysis alt_id: HP:0003847 def: "An anomaly of one or more metaphyses of the arms." [HPO:probinson] synonym: "Metaphyseal abnormality of the upper limbs" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses is_a: HP:0002817 ! Abnormality of the upper limb created_by: doelkens creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009810 name: Abnormality of upper limb joint synonym: "Abnormality of the joints of the upper limbs" EXACT [] is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0002817 ! Abnormality of the upper limb created_by: doelkens creation_date: 2009-02-23T04:57:56Z [Term] id: HP:0009811 name: Abnormality of the elbow alt_id: HP:0002966 def: "An anomaly of the joint that connects the upper and the lower arm." [HPO:probinson] subset: hposlim_core synonym: "Abnormality of the elbows" EXACT [] is_a: HP:0009810 ! Abnormality of upper limb joint created_by: doelkens creation_date: 2009-02-23T04:59:43Z [Term] id: HP:0009812 name: Amelia involving the upper limbs def: "Amelia of one or both upper limbs." [HPO:curators] is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009827 ! Amelia property_value: HP:0040005 "`Amelia` (HP:0009827) of one or both upper limbs." xsd:string {xref="HPO:curators"} created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009813 name: Upper limb phocomelia def: "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:probinson] is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009829 ! Phocomelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009814 name: Upper limb peromelia def: "Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation." [HPO:sdoelken] is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009828 ! Peromelia property_value: HP:0040005 "`Peromelia` (HP:0009828) affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009815 name: Aplasia/hypoplasia of the extremities alt_id: HP:0002969 alt_id: HP:0006497 def: "Absence (due to failure to form) or underdevelopment of the extremities." [HPO:probinson] synonym: "Aplasia/Hypoplasia involving bones of the extremities" EXACT [] synonym: "Short or absent limbs" EXACT [] synonym: "Shortened limbs" EXACT [] is_a: HP:0009115 ! Aplasia/hypoplasia involving the skeleton is_a: HP:0040064 ! Abnormality of limbs created_by: doelkens creation_date: 2009-02-23T05:06:40Z [Term] id: HP:0009816 name: Lower limb undergrowth alt_id: HP:0003087 alt_id: HP:0005884 alt_id: HP:0006399 def: "Leg shortening because of underdevelopment of one or more bones of the lower extremity." [HPO:probinson] synonym: "Hypoplasia involving bones of the lower limbs" EXACT [] synonym: "Hypoplasia of the lower limbs" EXACT [] is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009826 ! Limb undergrowth created_by: doelkens creation_date: 2009-02-23T05:09:32Z [Term] id: HP:0009817 name: Aplasia involving bones of the lower limbs is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:10:03Z [Term] id: HP:0009818 name: Amelia involving the lower limbs def: "Amelia of one or both legs." [HPO:curators] is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009827 ! Amelia property_value: HP:0040005 "`Amelia` (HP:0009827) of one or both legs." xsd:string {xref="HPO:curators"} created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009819 name: Lower limb phocomelia def: "Phocomelia affecting only the lower limbs." [HPO:sdoelken] is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0009829 ! Phocomelia property_value: HP:0040005 "`Phocomelia` (HP:0009829) affecting only the lower limbs." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009820 name: Lower limb peromelia def: "Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation." [HPO:sdoelken] is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0009828 ! Peromelia property_value: HP:0040005 "`Peromelia` (HP:0009828) affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009821 name: Forearm undergrowth alt_id: HP:0003024 alt_id: HP:0003968 alt_id: HP:0006405 def: "Forearm shortening because of underdevelopment of one or more bones of the forearm." [HPO:probinson] synonym: "Hypoplasia involving forearm bones" EXACT [] synonym: "Short forearm bones" EXACT [] synonym: "Short forearms" EXACT [] synonym: "Shortened forearm" EXACT [] xref: UMLS:C1855299 "Short forearms" is_a: HP:0003026 ! Short long bones is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones is_a: HP:0009824 ! Upper limb undergrowth is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs created_by: doelkens creation_date: 2009-02-23T05:11:42Z [Term] id: HP:0009822 name: Aplasia involving forearm bones is_a: HP:0006503 ! Aplasia/hypoplasia involving forearm bones created_by: doelkens creation_date: 2009-02-23T05:12:10Z [Term] id: HP:0009823 name: Aplasia involving bones of the upper limbs is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009824 name: Upper limb undergrowth alt_id: HP:0003056 alt_id: HP:0006364 def: "Arm shortening because of underdevelopment of one or more bones of the upper extremity." [HPO:probinson] synonym: "Hypoplasia involving bones of the upper limbs" EXACT [] synonym: "Short arms" EXACT [] synonym: "Shortening of the arms" EXACT [] xref: UMLS:C0426857 "Short arms" is_a: HP:0006496 ! Aplasia/hypoplasia involving bones of the upper limbs is_a: HP:0009826 ! Limb undergrowth created_by: doelkens creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009825 name: Aplasia involving bones of the extremities is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009826 name: Limb undergrowth alt_id: HP:0003058 alt_id: HP:0005049 alt_id: HP:0005057 def: "Limb shortening because of underdevelopment of one or more bones of the extremities." [HPO:probinson] synonym: "Hypoplasia involving bones of the extremities" EXACT [] synonym: "limb shortening" EXACT [] synonym: "Short limb" EXACT [] xref: UMLS:C0239399 "Short limbs" xref: UMLS:C1855208 "Shortened limbs" is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009827 name: Amelia def: "Congenital absence (aplasia) of one or more limbs." [HPO:sdoelken] subset: hposlim_core xref: MEDRA:10001926 "Amelia" xref: SNOMEDCT:62588002 "Amelia" xref: UMLS:C0002447 "Amelia" is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009828 name: Peromelia def: "The distal parts of the limbs are missing leading to a stump formation." [HPO:probinson] is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009829 name: Phocomelia alt_id: HP:0002994 def: "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:probinson] subset: hposlim_core xref: MEDRA:10034923 "Phocomelia" xref: SNOMEDCT:22841008 "Phocomelia" xref: UMLS:C0031575 "Phocomelia" is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities is_a: HP:0011314 ! Abnormality of long bone morphology created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009830 name: Peripheral neuropathy alt_id: HP:0003157 alt_id: HP:0003407 alt_id: HP:0007088 alt_id: HP:0007235 alt_id: HP:0007355 def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:sdoelken] synonym: "Neuropathy" RELATED [] xref: UMLS:C0031117 "Peripheral Neuropathy" is_a: HP:0000759 ! Abnormal peripheral nervous system morphology property_value: HP:0040005 "Peripheral neuropathy is a general term for any disorder of the `peripheral nervous system` (FMA:9903). The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." xsd:string {xref="HPO:sdoelken"} created_by: peter creation_date: 2009-03-01T07:49:18Z [Term] id: HP:0009831 name: Mononeuropathy def: "A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution." [HPO:probinson] xref: MeSH:D020422 "Mononeuropathies" xref: UMLS:C0494491 "Mononeuropathy" is_a: HP:0009830 ! Peripheral neuropathy created_by: peter creation_date: 2009-03-01T08:27:29Z [Term] id: HP:0009832 name: Abnormality of the distal phalanx of finger alt_id: HP:0005919 def: "Any anomaly of distal phalanx of finger." [HPO:probinson] synonym: "Abnormal terminal phalanges of the hand" EXACT [] synonym: "Abnormality of the distal phalanges of the hand" EXACT [] is_a: HP:0005918 ! Abnormality of phalanx of finger property_value: HP:0040005 "Any anomaly of `distal phalanx of finger` (FMA:75818)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009833 name: Abnormality of the middle phalanges of the hand def: "An anomaly of middle phalanx of finger." [HPO:probinson] is_a: HP:0005918 ! Abnormality of phalanx of finger property_value: HP:0040005 "An anomaly of `middle phalanx of finger` (FMA:75817)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009834 name: Abnormality of the proximal phalanges of the hand is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009835 name: Aplasia/Hypoplasia of the distal phalanges of the hand alt_id: HP:0005635 alt_id: HP:0006037 alt_id: HP:0006066 alt_id: HP:0006235 def: "Absence or underdevelopment of the distal phalanges." [HPO:curators] synonym: "Absent/hypoplastic distal phalanges" EXACT [] synonym: "Aplasia/Hypoplasia of the distal phalanges" EXACT [] synonym: "Aplastic/hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic to absent terminal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanx" EXACT [] synonym: "SMALL OR ABSENT DISTAL PHALANGES" RELATED [HPO:skoehler] is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009836 name: Broad distal phalanx of finger alt_id: HP:0003120 alt_id: HP:0006113 alt_id: HP:0006197 alt_id: HP:0006241 alt_id: HP:0009859 def: "Abnormally wide (broad) distal phalanx of finger." [HPO:sdoelken] synonym: "Broad distal phalanges" EXACT [] synonym: "Broad distal phalanges of the hand" EXACT [] synonym: "Broad distal phalanx" EXACT [] synonym: "Broad terminal phalanges" EXACT [] synonym: "Broad, square ends of distal phalanges" EXACT [] synonym: "Spatulate terminal phalanges" EXACT [] xref: UMLS:C1850630 "Broad distal phalanges" is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger property_value: HP:0040005 "Abnormally wide (broad) `distal phalanx of finger` (FMA:75818)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009837 name: Bullet-shaped distal phalanges of the hand alt_id: HP:0009860 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009838 name: Curved distal phalanges of the hand alt_id: HP:0009862 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009839 name: Osteolytic defects of the distal phalanges of the hand alt_id: HP:0001219 alt_id: HP:0009865 synonym: "Acro-osteolysis of distal phalanges" EXACT [] synonym: "Acroosteolysis of distal phalanges" EXACT [] is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009840 name: Patchy sclerosis of distal phalanx of finger alt_id: HP:0009868 def: "Uneven (irregular) increase in bone density of the distal phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100915 ! Sclerosis of distal finger phalanx created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009843 name: Aplasia/Hypoplasia of the middle phalanges of the hand alt_id: HP:0005810 alt_id: HP:0006063 alt_id: HP:0006148 synonym: "Absent/hypoplastic middle phalanges" EXACT [] synonym: "Aplasia/hypoplasia of middle phalanges" EXACT [] synonym: "Aplastic/hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic/aplastic middle phalanx" EXACT [] synonym: "Short to absent middle phalanges" EXACT [] synonym: "Short/absent middle phalanges" EXACT [] is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009844 name: Broad middle phalanx of finger def: "Increased width of the middle phalanx of finger." [HPO:probinson] synonym: "Broad middle phalanges of finger" EXACT [] synonym: "Broad middle phalanges of the hand" EXACT [] is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand property_value: HP:0040005 "Increased width of the `middle phalanx of finger` (FMA:75817)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009845 name: Bullet-shaped middle phalanges of the hand alt_id: HP:0006038 def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009846 name: Curved middle phalanges of the hand alt_id: HP:0009863 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009847 name: Osteolytic defects of the middle phalanges of the hand alt_id: HP:0009866 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009848 name: Patchy sclerosis of middle phalanx of finger alt_id: HP:0009870 def: "Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the middle phalanges of the hand" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100916 ! Sclerosis of middle finger phalanx created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009849 name: Symphalangism of middle phalanx of finger alt_id: HP:0009872 def: "Fusion of a middle phalanx of a finger with another bone." [HPO:probinson] is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009850 name: Triangular shaped middle phalanges of the hand alt_id: HP:0009876 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009851 name: Aplasia/Hypoplasia of the proximal phalanges of the hand is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009852 name: Broad proximal phalanges of the hand alt_id: HP:0006168 def: "Increased width of the proximal phalanges of the finger." [HPO:probinson] is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009853 name: Bullet-shaped proximal phalanges of the hand alt_id: HP:0009861 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009854 name: Curved proximal phalanges of the hand alt_id: HP:0009864 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009855 name: Osteolytic defects of the proximal phalanges of the hand alt_id: HP:0006050 alt_id: HP:0009867 synonym: "Proximal phalanges osteolysis" EXACT [] xref: UMLS:C1850148 "Proximal phalanges osteolysis" is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009856 name: Patchy sclerosis of proximal phalanx of finger alt_id: HP:0009869 def: "Uneven increase in bone density of the proximal phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of finger phalanx is_a: HP:0100917 ! Sclerosis of proximal finger phalanx created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009857 name: Symphalangism affecting the proximal phalanges of the hand alt_id: HP:0009873 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009858 name: Triangular shaped proximal phalanges of the hand alt_id: HP:0009877 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009875 name: Triangular shaped distal phalanges of the hand alt_id: HP:0006061 alt_id: HP:0009842 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger created_by: doelkens creation_date: 2009-03-11T01:53:07Z [Term] id: HP:0009878 name: Cerebellar ataxia associated with quadrupedal gait def: "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)." [HPO:curators] is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance creation_date: 2009-03-28T05:22:45Z [Term] id: HP:0009879 name: Cortical gyral simplification def: "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators] synonym: "SIMPLIFIED GYRAL PATTERN" EXACT [HPO:skoehler] is_a: HP:0002536 ! Abnormal cortical gyration creation_date: 2009-03-28T06:23:59Z [Term] id: HP:0009880 name: Broad distal phalanges of all fingers alt_id: HP:0005816 def: "Abnormally wide (broad) distal phalanx of finger of all fingers." [HPO:probinson] is_a: HP:0009836 ! Broad distal phalanx of finger property_value: HP:0040005 "Abnormally wide (broad) `distal phalanx of finger` (FMA:75818) of all fingers." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-04-24T04:18:59Z [Term] id: HP:0009881 name: Aplasia of the distal phalanges of the hand is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-04-24T04:29:30Z [Term] id: HP:0009882 name: Short distal phalanx of finger alt_id: HP:0001198 alt_id: HP:0001202 alt_id: HP:0001221 alt_id: HP:0001229 alt_id: HP:0005669 alt_id: HP:0006075 alt_id: HP:0006076 alt_id: HP:0006132 alt_id: HP:0006199 alt_id: HP:0006223 def: "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger." [HPO:probinson, pmid:19125433] comment: This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint. subset: hposlim_core synonym: "Brachytelophalangy" EXACT [] synonym: "Distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplasia of the distal phalanges" EXACT [] synonym: "Hypoplasia of the distal phalanges of the hand" EXACT [] synonym: "Hypoplasic terminal phalanges" EXACT [] synonym: "Hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic terminal phalanges" EXACT [] synonym: "Short distal phalanges" EXACT [] synonym: "Terminal phalangeal hypoplasia of hand" EXACT [] xref: UMLS:C1837681 "Hypoplastic terminal phalanges" is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand property_value: HP:0040005 "Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the `distal phalanx of finger` (FMA:75818)." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} created_by: doelkens creation_date: 2009-04-24T04:29:30Z [Term] id: HP:0009883 name: Duplication of the distal phalanx of hand alt_id: HP:0001228 alt_id: HP:0010007 def: "This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Bifid terminal phalanges" EXACT [] synonym: "Partial/complete duplication of the distal phalanges of the hand" EXACT [] xref: UMLS:C1849343 "Bifid terminal phalanges" is_a: HP:0009832 ! Abnormality of the distal phalanx of finger is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-04-24T04:33:55Z [Term] id: HP:0009884 name: Tapered distal phalanges of finger alt_id: HP:0006052 def: "A reduction in diameter of the distal phalanx of finger towards the distal end." [HPO:probinson] synonym: "Tapered distal phalanges" EXACT [] synonym: "Tapered distal phalanges of the hand" EXACT [] is_a: HP:0009832 ! Abnormality of the distal phalanx of finger property_value: HP:0040005 "A reduction in diameter of the `distal phalanx of finger` (FMA:75818) towards the distal end." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-04-24T04:40:31Z [Term] id: HP:0009885 name: obsolete Prenatal short stature def: "Short stature with prenatal onset." [HPO:curators] is_obsolete: true consider: HP:0001511 creation_date: 2009-04-30T05:29:10Z [Term] id: HP:0009886 name: Trichorrhexis nodosa def: "Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair." [HPO:curators] xref: UMLS:C0263485 "Trichorrhexis nodosa" is_a: HP:0003328 ! Abnormal hair laboratory examination created_by: peter creation_date: 2009-04-30T05:51:57Z [Term] id: HP:0009887 name: Abnormality of hair pigmentation def: "An abnormality of hair pigmentation (color)." [HPO:curators] is_a: HP:0001595 ! Abnormality of the hair created_by: peter creation_date: 2009-04-30T06:00:53Z [Term] id: HP:0009888 name: Abnormality of secondary sexual hair def: "Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair." [HPO:curators] is_a: HP:0001595 ! Abnormality of the hair created_by: peter creation_date: 2009-04-30T06:18:33Z [Term] id: HP:0009889 name: Localized hirsutism def: "Abnormally increased hair growth with a localized distribution." [HPO:curators] is_a: HP:0001007 ! Hirsutism created_by: peter creation_date: 2009-04-30T06:29:20Z [Term] id: HP:0009890 name: High anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella." [pmid:19125436] comment: This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead. subset: hposlim_core synonym: "High frontal hairline" EXACT [] is_a: HP:0000599 ! Abnormality of the frontal hairline created_by: peter creation_date: 2009-04-30T06:34:27Z [Term] id: HP:0009891 name: Underdeveloped supraorbital ridges alt_id: HP:0004667 alt_id: HP:0004672 alt_id: HP:0005337 def: "Flatness of the supraorbital portion of the frontal bones." [HPO:curators, pmid:19125436] subset: hposlim_core synonym: "Depressed supraorbital ridge" EXACT [] synonym: "Flat supraorbital ridge" EXACT [] synonym: "Hypoplasia of the supraorbital ridges" EXACT [] synonym: "Hypoplastic supraorbital ridge" EXACT [] synonym: "Hypoplastic supraorbital ridges" EXACT [] synonym: "Shallow orbital ridges" EXACT [] synonym: "Shallow supraorbital ridge" EXACT [] synonym: "Underdeveloped brows" RELATED [] xref: UMLS:C1854110 "Flat supraorbital ridge" is_a: HP:0100538 ! Abnormality of the supraorbital ridges created_by: peter creation_date: 2009-04-30T06:50:09Z [Term] id: HP:0009892 name: Anotia def: "Complete absence of any auricular structures." [HPO:probinson, pmid:19125421] comment: Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression. subset: hposlim_core synonym: "Absent ear" RELATED [] synonym: "ABSENT EARS" RELATED [HPO:skoehler] synonym: "Congenital absence of external ear" RELATED [HPO:skoehler] xref: SNOMEDCT:57436000 "Congenital absence of external ear" xref: UMLS:C0559900 "Absence of ear" xref: UMLS:C0702139 "Anotia" is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear created_by: peter creation_date: 2009-04-30T06:53:41Z [Term] id: HP:0009893 name: Telangiectasia of the ear def: "The presence of telangiectasia of the ear." [HPO:probinson] subset: hposlim_core is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0100585 ! Teleangiectasia of the skin property_value: HP:0040005 "The presence of `telangiectasia` (MPATH:476) of the `ear` (FMA:52780)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-04-30T10:07:39Z [Term] id: HP:0009894 name: Thickened ears def: "Increased thickness of the external ear." [] subset: hposlim_core is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-04-30T10:09:17Z [Term] id: HP:0009895 name: Abnormality of the crus of the helix def: "An abnormality of the crus of the helix (FMA:61024), which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear." [HPO:probinson] synonym: "Abnormality of the crus of the ear" EXACT [] is_a: HP:0011039 ! Abnormality of the helix property_value: HP:0040005 "An abnormality of the `crus of the helix (FMA:61024), which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-04-30T10:32:41Z [Term] id: HP:0009896 name: Abnormality of the antitragus def: "An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch." [HPO:probinson] subset: hposlim_core is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-04-30T10:13:21Z [Term] id: HP:0009897 name: Horizontal crus of helix def: "An abnormal horizontal axis orientation of the crus of the helix (FMA:61024). That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly." [HPO:probinson, pmid:19152421] comment: The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately. subset: hposlim_core synonym: "Helix, crus, horizontal" EXACT [] synonym: "Horizontal orientation of the crus of helix" EXACT [] synonym: "Horizontal orientation of the ear crus" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: HP:0040005 "An abnormal `horizontal` (PATO:0001855) axis orientation of the `crus of the helix (FMA:61024). That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly." xsd:string {xref="HPO:probinson", xref="pmid:19152421"} created_by: peter creation_date: 2009-04-30T10:34:52Z [Term] id: HP:0009898 name: Underdeveloped crus of the helix def: "Developmental hypoplasia of the crus of the helix (FMA:61024). That is, flatter and/or shorter crus helix than average." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Hypoplasia of the crus of the ear" EXACT [] synonym: "Underdeveloped crus of the ear" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: HP:0040005 "Developmental hypoplasia of the `crus of the helix (FMA:61024). That is, flatter and/or shorter crus helix than average." xsd:string {xref="HPO:probinson", xref="pmid:19152421"} created_by: peter creation_date: 2009-04-30T10:36:43Z [Term] id: HP:0009899 name: Prominent crus of helix def: "The presence of an abnormally prominent of the crus of the helix (FMA:61024). That is, development of the crus helix to the same degree as an average antihelix stem or helix." [HPO:probinson, pmid:19152421] subset: hposlim_core synonym: "Abnormal prominence of the crus of the ear" EXACT [] synonym: "Helix, crus, prominent" EXACT [] synonym: "Hyperplastic helix crus" EXACT [] synonym: "Hypertrophic helix crus" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix property_value: HP:0040005 "The presence of an abnormally `prominent` (PATO:0001482) of the `crus of the helix (FMA:61024). That is, development of the crus helix to the same degree as an average antihelix stem or helix." xsd:string {xref="HPO:probinson", xref="pmid:19152421"} created_by: peter creation_date: 2009-04-30T10:38:06Z [Term] id: HP:0009900 name: Unilateral deafness def: "A unilateral absence of sensory perception of sound." [HPO:probinson] comment: Deafness affecting only one ear. synonym: "Deafness, unilateral" EXACT [] xref: SNOMEDCT:162342008 "Unilateral deafness" xref: UMLS:C2607947 "Unilateral deafness" is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "A `unilateral` (PATO:0000634) `absence` (PATO:0000462) of `sensory perception of sound` (GO:0007605)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-04-30T10:42:23Z [Term] id: HP:0009901 name: Crumpled ear def: "Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds." [pmid:19152421] comment: This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth. subset: hposlim_core is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-04-30T10:50:28Z [Term] id: HP:0009902 name: Cleft helix def: "A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length." [HPO:probinson, pmid:19152421] comment: This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix. subset: hposlim_core synonym: "Notched helix" EXACT [] synonym: "Notching of the ear helix" EXACT [] is_a: HP:0011039 ! Abnormality of the helix property_value: HP:0040005 "A `notched` (PATO:0001495) form of the `helix` (FMA:60992) of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length." xsd:string {xref="HPO:probinson", xref="pmid:19152421"} created_by: peter creation_date: 2009-04-30T10:52:45Z [Term] id: HP:0009903 name: Conjunctival nodule def: "Presence of nodules in the conjunctiva of the eye." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:428477002 "Nodule of conjunctiva" xref: UMLS:C1996949 "Conjunctival nodule" is_a: HP:0000502 ! Abnormality of the conjunctiva property_value: HP:0040005 "Presence of nodules in the `conjunctiva` (FMA:59011) of the eye." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-02T05:04:15Z [Term] id: HP:0009904 name: Prominent ear helix def: "Abnormally prominent ear helix." [HPO:probinson] synonym: "Large helix" RELATED [] is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-05-01T02:49:39Z [Term] id: HP:0009905 name: Thin ear helix def: "Decreased thickness of thehelix of the ear." [HPO:probinson] subset: hposlim_core is_a: HP:0011039 ! Abnormality of the helix property_value: HP:0040005 "`Decreased thickness` (PATO:0000592) of the`helix` (FMA:60992) of the ear." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-01T02:50:35Z [Term] id: HP:0009906 name: Aplasia/Hypoplasia of the earlobes def: "Absence or underdevelopment of the ear lobes." [HPO:curators] synonym: "ABSENT EAR LOBES" RELATED [HPO:skoehler] is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T02:55:12Z [Term] id: HP:0009907 name: Attached earlobe def: "Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward." [pmid:19152421] comment: The earlobe does not have a dependent portion. subset: hposlim_core synonym: "Adherent earlobe" EXACT [] is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T02:57:50Z [Term] id: HP:0009908 name: Anterior creases of earlobe alt_id: HP:0008604 def: "Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe." [pmid:19152421] comment: Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately. subset: hposlim_core synonym: "Earlobe crease" EXACT [] synonym: "Transverse earlobe creases" EXACT [] xref: UMLS:C1866804 "Transverse earlobe creases" is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T03:00:22Z [Term] id: HP:0009909 name: Uplifted earlobe alt_id: HP:0009764 def: "An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly." [HPO:probinson, pmid:19152421] comment: This finding is characteristic of Mowat-Wilson syndrome. subset: hposlim_core synonym: "Fleshy upturned lobules" EXACT [] synonym: "Lobe, uplifted" EXACT [] synonym: "UPLIFTED EARLOBES" RELATED [HPO:skoehler] synonym: "Upturned earlobe" EXACT [] synonym: "UPTURNED EARLOBES" RELATED [HPO:skoehler] xref: UMLS:C1856117 "Fleshy upturned lobules" is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2009-05-01T03:02:07Z [Term] id: HP:0009910 name: Aplasia of the middle ear ossicles def: "Absence of the middle ear ossicles, malleus, incus, and stapes." [HPO:probinson] synonym: "Absent middle ear ossicles" EXACT [] xref: SNOMEDCT:300165009 "Ossicles absent" xref: UMLS:C0576896 "Ossicles absent" is_a: HP:0004452 ! Abnormality of the middle ear ossicles property_value: HP:0040005 "Absence of the middle ear ossicles, `malleus` (FMA:52753), `incus` (FMA:52752), and `stapes` (FMA:52751)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-01T03:26:53Z [Term] id: HP:0009911 name: Abnormality of the temporal bone def: "Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple." [HPO:probinson] subset: hposlim_core is_a: HP:0000929 ! Abnormality of the skull created_by: peter creation_date: 2009-05-01T03:33:17Z [Term] id: HP:0009912 name: Abnormality of the tragus def: "An abnormality of the tragus." [HPO:probinson] comment: The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal. is_a: HP:0000377 ! Abnormality of the pinna property_value: HP:0040005 "An abnormality of the `tragus` (FMA:60998)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-01T03:39:56Z [Term] id: HP:0009913 name: Aplasia/Hypoplasia of the tragus def: "Aplasia or developmental hypoplasia of the tragus." [HPO:probinson] is_a: HP:0009912 ! Abnormality of the tragus property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the tragus." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-01T03:43:12Z [Term] id: HP:0009914 name: Cyclopia def: "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [DDD:ncarter] subset: hposlim_core xref: UMLS:C0266667 "Cyclopia" is_a: HP:0100886 ! Abnormality of globe location created_by: peter creation_date: 2009-05-01T03:52:15Z [Term] id: HP:0009915 name: Corneal asymmetry def: "The presence of a size difference between the left and right cornea." [HPO:probinson] subset: hposlim_core synonym: "Asymmetry of the corneas" EXACT [] is_a: HP:0001120 ! Abnormality of corneal size created_by: peter creation_date: 2009-05-02T05:06:20Z [Term] id: HP:0009916 name: Anisocoria def: "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease." [HPO:probinson] comment: Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris. subset: hposlim_core synonym: "Asymmetric pupil sizes" EXACT [] synonym: "Asymmetry of the pupils" EXACT [] xref: MeSH:D015875 "Anisocoria" xref: UMLS:C0003079 "Anisocoria" is_a: HP:0000615 ! Abnormality of the pupil created_by: peter creation_date: 2009-05-02T05:46:50Z [Term] id: HP:0009917 name: Persistent pupillary membrane def: "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil." [HPO:probinson] comment: The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris. xref: UMLS:C0344541 "Persistent pupillary membrane" is_a: HP:0000615 ! Abnormality of the pupil created_by: peter creation_date: 2009-05-02T05:51:28Z [Term] id: HP:0009918 name: Ectopia pupillae def: "A malposition of the pupil owing to a developmental defect of the iris." [DDD:gblack, HPO:probinson] subset: hposlim_core synonym: "Corectopia" EXACT [] xref: UMLS:C0271135 "Ectopia pupillae" is_a: HP:0000615 ! Abnormality of the pupil property_value: HP:0040005 "A malposition of the `pupil` (FMA:58252) owing to a developmental defect of the iris." xsd:string {xref="DDD:gblack", xref="HPO:probinson"} created_by: peter creation_date: 2009-05-02T06:01:01Z [Term] id: HP:0009919 name: Retinoblastoma def: "A tumor of the eye originating from cells of the retina." [HPO:curators] xref: MeSH:D012175 "Retinoblastoma" xref: UMLS:C0694889 "RETINOBLASTOMA" is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0012777 ! Retinal neoplasm is_a: HP:0030063 ! Neuroepithelial neoplasm created_by: peter creation_date: 2009-05-02T06:23:25Z [Term] id: HP:0009920 name: Nevus of Ota def: "A macular lesion on the side of the face, involving the conjunctiva and eyelids, as well as the adjacent facial skin, sclera, oculomotor muscles, and perisoteum. Histological features vary from those of a Mongoloian spot to those of a blue nevus." [MeSH:D009507] synonym: "Congenital melanosis bulbi" EXACT [] synonym: "Oculodermal melanocytosis" EXACT [] xref: MeSH:D009507 "Nevus of Ota" is_a: HP:0001034 ! Hypermelanotic macule created_by: peter creation_date: 2009-05-02T06:26:59Z [Term] id: HP:0009921 name: Duane anomaly alt_id: HP:0001109 def: "Duane anomaly is a congenital eye movement impairment with limitation of the ability to adduct or abduct the eye. When affected eyes are adducted (moved inwards towards the nose), the eyeball retracts and the palpebral fissure narrows." [HPO:probinson] subset: hposlim_core synonym: "Globe retraction and deviation on adduction" RELATED [] xref: UMLS:C0013261 "Duane anomaly" is_a: HP:0000496 ! Abnormality of eye movement created_by: peter creation_date: 2009-05-02T06:32:41Z [Term] id: HP:0009922 name: Persistence of the hyaloid artery def: "Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth." [HPO:curators] is_a: HP:0004327 ! Abnormality of the vitreous humor created_by: peter creation_date: 2009-05-02T06:43:07Z [Term] id: HP:0009924 name: Aplasia/Hypoplasia involving the nose def: "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] is_a: HP:0005105 ! Abnormal nasal morphology created_by: peter creation_date: 2009-05-05T06:44:04Z [Term] id: HP:0009926 name: Increased lacrimation alt_id: HP:0001486 def: "Abnormally increased lacrimation, that is, excessive tearing (watering eye)." [DDD:ncarter, HPO:probinson] comment: Nasolacrimal obstruction is the most common etiology of epiphora. Other causes include impatent puncta, congenital glaucoma, keratitis, and posterior fossa tumor. subset: hposlim_core synonym: "Epiphora" EXACT [] synonym: "Increased tear production" EXACT [] xref: UMLS:C0423153 "Lacrimation" xref: UMLS:C2111105 "epiphora" is_a: HP:0000632 ! Lacrimation abnormality created_by: peter creation_date: 2009-05-02T10:52:28Z [Term] id: HP:0009927 name: Aplasia of the nose def: "Complete absence of all nasal structures." [HPO:probinson] subset: hposlim_core synonym: "Absent nose" EXACT [] synonym: "Arrhinia" EXACT [] xref: MeSH:C537438 "Arrhinia" xref: SNOMEDCT:111317000 "Congenital absence of nose" xref: UMLS:C0265740 "Arrhinia" xref: UMLS:C1364775 "Absent nose" is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose created_by: peter creation_date: 2009-05-05T06:44:57Z [Term] id: HP:0009928 name: Thick nasal alae def: "Increase in bulk of the ala nasi." [pmid:19152422] subset: hposlim_core synonym: "Ala nasi, thick" EXACT [] synonym: "Thickening of the alae nasi" EXACT [] is_a: HP:0000429 ! Abnormality of the nasal alae created_by: peter creation_date: 2009-05-05T06:47:43Z [Term] id: HP:0009929 name: Abnormality of the columella def: "An abnormality of the columella." [HPO:curators] comment: The columella is the fleshy external end of the nasal septum. is_a: HP:0010938 ! Abnormality of the external nose property_value: HP:0040005 "An abnormality of the `columella` (FMA:59725)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-05-05T06:51:28Z [Term] id: HP:0009930 name: Asymmetry of the nares def: "Asymmetry or size difference between the left and right nostril." [HPO:probinson] subset: hposlim_core is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-05T07:06:20Z [Term] id: HP:0009931 name: Enlarged naris def: "Increased aperture of the nostril." [pmid:19152422] comment: The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age. subset: hposlim_core synonym: "Increased width of nares" EXACT [] synonym: "Naris, broad" EXACT [] synonym: "Naris, enlarged" EXACT [] is_a: HP:0005288 ! Abnormality of the nares property_value: HP:0040005 "Increased aperture of the `nostril` (FMA:59645)." xsd:string {xref="pmid:19152422"} creation_date: 2009-05-10T10:30:20Z [Term] id: HP:0009932 name: Single naris def: "The presence of only a single nostril." [pmid:19152422] comment: The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified. subset: hposlim_core synonym: "Single nostril" EXACT [] xref: SNOMEDCT:95266003 "Single naris" xref: UMLS:C0685682 "Single nostril" is_a: HP:0005288 ! Abnormality of the nares property_value: HP:0040005 "The presence of only a single `nostril` (FMA:59645)." xsd:string {xref="pmid:19152422"} created_by: peter creation_date: 2009-05-10T10:33:56Z [Term] id: HP:0009933 name: Narrow naris def: "Slender, slit-like aperture of the nostril." [HPO:probinson] subset: hposlim_core synonym: "Naris, narrow" EXACT [] synonym: "Naris, slit-like" EXACT [] synonym: "Thin nares" EXACT [] xref: UMLS:C1849366 "Thin nares" is_a: HP:0005288 ! Abnormality of the nares property_value: HP:0040005 "Slender, slit-like aperture of the `nostril` (FMA:59645)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-10T10:35:51Z [Term] id: HP:0009934 name: Supernumerary naris def: "The presence of more than two nostrils." [pmid:19152422] subset: hposlim_core synonym: "Supernumerary nostrils" EXACT [] is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-10T10:37:41Z [Term] id: HP:0009935 name: Aplasia/Hypoplasia of the nasal septum def: "Absence or underdevelopment of the nasal septum." [HPO:curators] is_a: HP:0000419 ! Abnormality of the nasal septum is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose created_by: peter creation_date: 2009-05-10T10:40:21Z [Term] id: HP:0009936 name: Narrow nasal septum def: "Abnormally narrow nasal septum." [HPO:probinson] subset: hposlim_core is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2009-05-10T10:46:40Z [Term] id: HP:0009937 name: Facial hirsutism def: "Excess facial hair." [HPO:curators] xref: UMLS:C1850041 "Facial hirsutism" is_a: HP:0009889 ! Localized hirsutism created_by: peter creation_date: 2009-05-10T10:58:49Z [Term] id: HP:0009938 name: Sunken cheeks def: "Lack or loss of the soft tissues between the zygomata and mandible." [pmid:19125436] subset: hposlim_core is_a: HP:0004426 ! Abnormality of the cheeks created_by: peter creation_date: 2009-05-10T11:17:18Z [Term] id: HP:0009939 name: Mandibular aplasia def: "Absence of the mandible." [HPO:curators] synonym: "Absent mandible" EXACT [] is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible created_by: peter creation_date: 2009-05-10T11:27:14Z [Term] id: HP:0009940 name: Asymmetry of the mandible def: "Lack of symmetry between the left and right mandible." [HPO:probinson] subset: hposlim_core is_a: HP:0000277 ! Abnormality of the mandible property_value: HP:0040005 "Lack of symmetry between the left and right `mandible` (FMA:52748)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-10T11:28:02Z [Term] id: HP:0009941 name: Asymmetry of the mouth def: "The presence of an asymmetric mouth." [HPO:probinson] subset: hposlim_core is_a: HP:0011338 ! Abnormality of mouth shape property_value: HP:0040005 "The presence of an `asymmetric` (PATO:0000616) `mouth` (FMA:49184)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-05-10T11:30:31Z [Term] id: HP:0009942 name: Duplication of thumb phalanx alt_id: HP:0009661 def: "Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:sdoelken] synonym: "Complete/partial duplication of phalanges of the thumb" EXACT [] synonym: "Duplicated thumb" RELATED [] synonym: "Duplication of phalanx of thumb" EXACT [] is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-15T12:51:02Z [Term] id: HP:0009943 name: Complete duplication of thumb phalanx alt_id: HP:0002801 alt_id: HP:0004067 def: "A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:probinson] synonym: "Complete duplication of the phalanges of the thumb" EXACT [] synonym: "Digitalization of thumb" EXACT [] synonym: "Digitalization of thumbs" EXACT [] is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-15T12:51:35Z [Term] id: HP:0009944 name: Partial duplication of thumb phalanx alt_id: HP:0001244 alt_id: HP:0004070 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:probinson] synonym: "Bifid thumb" EXACT [] synonym: "Notching of thumb phalanges" EXACT [] synonym: "Partial duplication of the phalanges of the thumb" EXACT [] xref: UMLS:C0265608 "Bifid thumb" is_a: HP:0009942 ! Duplication of thumb phalanx is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-15T12:51:57Z [Term] id: HP:0009945 name: Duplication of phalanx of 2nd finger def: "This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:curators] synonym: "Partial/complete duplication of phalanges of the 2nd finger" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009946 ! Polydactyly affecting the 2nd finger is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-15T01:00:37Z [Term] id: HP:0009946 name: Polydactyly affecting the 2nd finger is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0006159 ! Mesoaxial hand polydactyly created_by: doelkens creation_date: 2009-05-15T01:01:48Z [Term] id: HP:0009947 name: Duplication of the proximal phalanx of the 2nd finger def: "Partial or complete duplication of the second proximal phalanx of hand." [HPO:probinson] synonym: "Partial/complete duplication of the proximal phalanx of the 2nd finger" EXACT [] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `second proximal phalanx of hand` (FMA:23919)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009948 name: Duplication of the distal phalanx of the 2nd finger def: "Partial or complete duplication of the distal phalanx of index finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 2nd finger" EXACT [] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009945 ! Duplication of phalanx of 2nd finger property_value: HP:0040005 "Partial or complete duplication of the `distal phalanx of index finger` (FMA:23946)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009949 name: Duplication of the middle phalanx of the 2nd finger def: "Partial or complete duplication of the middle phalanx of index finger." [HPO:probinson] synonym: "Partial/complete duplication of the middle phalanx of the 2nd finger" EXACT [] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `middle phalanx of index finger` (FMA:23933)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009950 name: Complete duplication of the distal phalanx of the 2nd finger def: "Complete duplication of the distal phalanx of index finger." [HPO:probinson] is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `distal phalanx of index finger` (FMA:23946)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-15T02:03:28Z [Term] id: HP:0009951 name: Partial duplication of the distal phalanx of the 2nd finger def: "Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 2nd finger" EXACT [] is_a: HP:0009948 ! Duplication of the distal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `distal phalanx of index finger` (FMA:23946), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-15T02:03:28Z [Term] id: HP:0009952 name: Complete duplication of the middle phalanx of the 2nd finger def: "Complete duplication of the middle phalanx of index finger." [HPO:probinson] is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: HP:0040005 "Complete duplication of the `middle phalanx of index finger` (FMA:23933)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-15T02:05:27Z [Term] id: HP:0009953 name: Partial duplication of the middle phalanx of the 2nd finger def: "Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009949 ! Duplication of the middle phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: HP:0040005 "Partial duplication of the `middle phalanx of index finger` (FMA:23933), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-15T02:05:27Z [Term] id: HP:0009954 name: Complete duplication of the proximal phalanx of the 2nd finger def: "Complete duplication of the Second proximal phalanx of hand." [HPO:probinson] is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009957 ! Complete duplication of the phalanges of the 2nd finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `Second proximal phalanx of hand` (FMA:23919)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-15T02:06:11Z [Term] id: HP:0009955 name: Partial duplication of the proximal phalanx of the 2nd finger def: "Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009947 ! Duplication of the proximal phalanx of the 2nd finger is_a: HP:0009956 ! Partial duplication of the phalanges of the 2nd finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `Second proximal phalanx of hand` (FMA:23919), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-15T02:06:11Z [Term] id: HP:0009956 name: Partial duplication of the phalanges of the 2nd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-15T02:07:41Z [Term] id: HP:0009957 name: Complete duplication of the phalanges of the 2nd finger def: "A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] is_a: HP:0009945 ! Duplication of phalanx of 2nd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-15T02:08:02Z [Term] id: HP:0009958 name: Polydactyly affecting the 3rd finger is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0006159 ! Mesoaxial hand polydactyly created_by: doelkens creation_date: 2009-05-26T09:54:29Z [Term] id: HP:0009959 name: Duplication of phalanx of 3rd finger def: "This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Partial/complete duplication of phalanges of the 3rd finger" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009958 ! Polydactyly affecting the 3rd finger is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T09:54:51Z [Term] id: HP:0009960 name: Complete duplication of the phalanges of the 3rd finger def: "A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009961 name: Partial duplication of the phalanges of the 3rd finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009962 name: Duplication of the distal phalanx of the 3rd finger def: "Partial or complete duplication of the distal phalanx of middle finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 3rd finger" EXACT [] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009959 ! Duplication of phalanx of 3rd finger property_value: HP:0040005 "Partial or complete duplication of the `distal phalanx of middle finger` (FMA:23947)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009963 name: Duplication of the middle phalanx of the 3rd finger def: "Partial or complete duplication of the middle phalanx of middle finger." [HPO:probinson] synonym: "Partial/complete duplication of the middle phalanx of the 3rd finger" EXACT [] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `middle phalanx of middle finger` (FMA:23934)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009964 name: Duplication of the proximal phalanx of the 3rd finger def: "Partial or complete duplication of the third proximal phalanx of hand." [HPO:probinson] synonym: "Partial/complete duplication of the proximal phalanx of the 3rd finger" EXACT [] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009959 ! Duplication of phalanx of 3rd finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `third proximal phalanx of hand` (FMA:23920)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009965 name: Complete duplication of the distal phalanx of the 3rd finger def: "Complete duplication of the distal phalanx of middle finger." [HPO:probinson] is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `distal phalanx of middle finger` (FMA:23947)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009966 name: Complete duplication of the middle phalanx of the 3rd finger def: "Complete duplication of the middle phalanx of middle finger." [HPO:probinson] is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: HP:0040005 "Complete duplication of the `middle phalanx of middle finger` (FMA:23934)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009967 name: Complete duplication of the proximal phalanx of the 3rd finger def: "Complete duplication of the third proximal phalanx of hand." [HPO:probinson] is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `third proximal phalanx of hand` (FMA:23920)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T12:49:35Z [Term] id: HP:0009968 name: Partial duplication of the distal phalanx of the 3rd finger def: "Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 3rd finger" EXACT [] is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Duplication of the distal phalanx of the 3rd finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `distal phalanx of middle finger` (FMA:23947), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009969 name: Partial duplication of the middle phalanx of the 3rd finger def: "Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Duplication of the middle phalanx of the 3rd finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: HP:0040005 "Partial duplication of the `middle phalanx of middle finger` (FMA:23934), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009970 name: Partial duplication of the proximal phalanx of the 3rd finger def: "Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Duplication of the proximal phalanx of the 3rd finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `third proximal phalanx of hand` (FMA:23920), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009971 name: Polydactyly affecting the 4th finger is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0006159 ! Mesoaxial hand polydactyly created_by: doelkens creation_date: 2009-05-26T02:19:06Z [Term] id: HP:0009972 name: Duplication of phalanx of 4th finger def: "This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Partial/complete duplication of phalanges of the 4th finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009971 ! Polydactyly affecting the 4th finger is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:19:28Z [Term] id: HP:0009973 name: Complete duplication of the phalanges of the 4th finger def: "A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009974 name: Partial duplication of the phalanges of the 4th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009975 name: Duplication of the distal phalanx of the 4th finger def: "Partial or complete duplication of the distal phalanx of ring finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 4th finger" EXACT [] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009972 ! Duplication of phalanx of 4th finger property_value: HP:0040005 "Partial or complete duplication of the `distal phalanx of ring finger` (FMA:23948)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009976 name: Duplication of the middle phalanx of the 4th finger def: "Partial or complete duplication of the middle phalanx of ring finger." [HPO:probinson] synonym: "Partial/complete duplication of the middle phalanx of the 4th finger" EXACT [] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `middle phalanx of ring finger` (FMA:23935)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009977 name: Duplication of the proximal phalanx of the 4th finger def: "Partial or complete duplication of the fourth proximal phalanx of hand." [HPO:probinson] synonym: "Partial/complete duplication of the proximal phalanx of the 4th finger" EXACT [] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009972 ! Duplication of phalanx of 4th finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `fourth proximal phalanx of hand` (FMA:23921)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009978 name: Complete duplication of the distal phalanx of the 4th finger def: "Complete duplication of the distal phalanx of ring finger." [HPO:probinson] is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `distal phalanx of ring finger` (FMA:23948)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009979 name: Complete duplication of the middle phalanx of the 4th finger def: "Complete duplication of the middle phalanx of ring finger." [HPO:probinson] is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: HP:0040005 "Complete duplication of the `middle phalanx of ring finger` (FMA:23935)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009980 name: Complete duplication of the proximal phalanx of the 4th finger def: "Complete duplication of the fourth proximal phalanx of hand." [HPO:probinson] is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `fourth proximal phalanx of hand` (FMA:23921)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:20:23Z [Term] id: HP:0009981 name: Partial duplication of the distal phalanx of the 4th finger def: "Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 4th finger" EXACT [] is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Duplication of the distal phalanx of the 4th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `distal phalanx of ring finger` (FMA:23948), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009982 name: Partial duplication of the middle phalanx of the 4th finger def: "Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Duplication of the middle phalanx of the 4th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: HP:0040005 "Partial duplication of the `middle phalanx of ring finger` (FMA:23935), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009983 name: Partial duplication of the proximal phalanx of the 4th finger def: "Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Duplication of the proximal phalanx of the 4th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `fourth proximal phalanx of hand` (FMA:23921), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009985 name: Duplication of phalanx of 5th finger def: "This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Partial/complete duplication of phalanges of the 5th finger" EXACT [] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:23:38Z [Term] id: HP:0009986 name: Complete duplication of the phalanges of the 5th finger def: "A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009987 name: Partial duplication of the phalanges of the 5th finger def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009988 name: Duplication of the distal phalanx of the 5th finger def: "Partial or complete duplication of the distal phalanx of little finger." [HPO:probinson] synonym: "Partial/complete duplication of the distal phalanx of the 5th finger" EXACT [] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009985 ! Duplication of phalanx of 5th finger property_value: HP:0040005 "Partial or complete duplication of the `distal phalanx of little finger` (FMA:23949)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009989 name: Duplication of the middle phalanx of the 5th finger def: "Partial or complete duplication of the fifth middle phalanx of hand." [HPO:probinson] synonym: "Partial/complete duplication of the middle phalanx of the 5th finger" EXACT [] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0010008 ! Duplication of the middle phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `fifth middle phalanx of hand` (FMA:23936)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009990 name: Duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand." [HPO:probinson] synonym: "Partial/complete duplication of the proximal phalanx of the 5th finger" EXACT [] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009985 ! Duplication of phalanx of 5th finger is_a: HP:0010006 ! Duplication of the proximal phalanx of hand property_value: HP:0040005 "Partial or complete duplication of the `fifth proximal phalanx of hand` (FMA:23922)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009991 name: Complete duplication of the distal phalanx of the 5th finger def: "Complete duplication of the distal phalanx of little finger." [HPO:probinson] is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `distal phalanx of little finger` (FMA:23949)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009992 name: Complete duplication of the middle phalanx of the 5th finger def: "Complete duplication of the fifth middle phalanx of hand." [HPO:probinson] is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand property_value: HP:0040005 "Complete duplication of the `fifth middle phalanx of hand` (FMA:23936)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009993 name: Complete duplication of the proximal phalanx of the 5th finger def: "Complete duplication of the fifth proximal phalanx of hand." [HPO:probinson] is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand property_value: HP:0040005 "Complete duplication of the `fifth proximal phalanx of hand` (FMA:23922)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-26T02:24:33Z [Term] id: HP:0009994 name: Partial duplication of the distal phalanx of the 5th finger def: "Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] synonym: "Bifid terminal phalanx of the 5th finger" EXACT [] is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Duplication of the distal phalanx of the 5th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand property_value: HP:0040005 "Partial duplication of the `distal phalanx of little finger` (FMA:23949), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009995 name: Partial duplication of the middle phalanx of the 5th finger def: "Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Duplication of the middle phalanx of the 5th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand property_value: HP:0040005 "Partial duplication of the `fifth middle phalanx of hand` (FMA:23936), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009996 name: Partial duplication of the proximal phalanx of the 5th finger def: "Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx." [HPO:sdoelken] is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Duplication of the proximal phalanx of the 5th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand property_value: HP:0040005 "Partial or complete duplication of the `fifth proximal phalanx of hand` (FMA:23922), seen on x-rays as a broad and/or bifid phalanx." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009997 name: Duplication of phalanx of hand alt_id: HP:0009143 def: "This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Duplication of finger bones" EXACT [] is_a: HP:0001167 ! Abnormality of finger is_a: HP:0004275 ! Duplication of hand bones is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2009-05-26T02:28:25Z [Term] id: HP:0009998 name: Complete duplication of phalanx of hand def: "A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:30:16Z [Term] id: HP:0009999 name: Partial duplication of the phalanx of hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T02:30:35Z [Term] id: HP:0010000 name: Complete duplication of the proximal phalanges of the hand def: "A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also refered to as Hyperphalangism." [HPO:curators] is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010001 name: Complete duplication of the distal phalanges of the hand def: "A complete duplication affecting one or more of the distal phalanges of the hand." [HPO:sdoelken] comment: As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism. is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009998 ! Complete duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010002 name: Complete duplication of the middle phalanges of the hand def: "A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism." [HPO:sdoelken] is_a: HP:0009998 ! Complete duplication of phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:02Z [Term] id: HP:0010003 name: Partial duplication of the proximal phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010006 ! Duplication of the proximal phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010004 name: Partial duplication of the distal phalanges of the hand alt_id: HP:0006196 def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] synonym: "Bifid terminal phalanges of the hand" EXACT [] is_a: HP:0009883 ! Duplication of the distal phalanx of hand is_a: HP:0009999 ! Partial duplication of the phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010005 name: Partial duplication of the middle phalanges of the hand def: "A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones." [HPO:curators] is_a: HP:0009999 ! Partial duplication of the phalanx of hand is_a: HP:0010008 ! Duplication of the middle phalanx of hand created_by: doelkens creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010006 name: Duplication of the proximal phalanx of hand def: "This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Partial/complete duplication of the proximal phalanges of the hand" EXACT [] is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010008 name: Duplication of the middle phalanx of hand def: "This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated." [HPO:sdoelken] synonym: "Partial/complete duplication of the middle phalanges of the hand" EXACT [] is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand is_a: HP:0009997 ! Duplication of phalanx of hand created_by: doelkens creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010009 name: Abnormality of the 1st metacarpal def: "A structural anomaly of the first metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010010 name: Abnormality of the 2nd metacarpal def: "Any abnormality of the second metacarpal bone." [HPO:curators] is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010011 name: Abnormality of the 3rd metacarpal def: "Any abnormality of the third metacarpal bone." [HPO:curators] is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010012 name: Abnormality of the 4th metacarpal def: "Any abnormality of the fourth metacarpal bone." [HPO:curators] is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010013 name: Abnormality of the 5th metacarpal def: "Any abnormality of the fifth metacarpal bone." [HPO:curators] is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010014 name: Abnormality of the epiphysis of the 1st metacarpal def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010009 ! Abnormality of the 1st metacarpal is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T03:43:11Z [Term] id: HP:0010015 name: Absent epiphysis of the 1st metacarpal is_a: HP:0009196 ! Absent metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010268 ! Absent epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010016 name: Bracket epiphysis of the 1st metacarpal def: "An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate." [HPO:probinson, pmid:24432108] is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010269 ! Bracket epiphyses of the proximal phalanges of the hand is_a: HP:0200050 ! Bracket metacarpal epiphyses created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010017 name: Cone-shaped epiphysis of the 1st metacarpal def: "A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance." [HPO:probinson] is_a: HP:0006059 ! Cone-shaped metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010018 name: Enlarged epiphysis of the 1st metacarpal def: "Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson] is_a: HP:0006134 ! Enlarged metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010271 ! Enlarged epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010019 name: Fragmentation of the epiphysis of the 1st metacarpal def: "Epiphysis of the 1st metacarpal having multiple bony fragments." [HPO:probinson] is_a: HP:0009189 ! Fragmentation of the metacarpal epiphyses is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010272 ! Fragmentation of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010020 name: Irregular epiphysis of the 1st metacarpal def: "Uneven radiographic opacity of the epiphysis of the 1st metacarpal." [HPO:probinson] is_a: HP:0009190 ! Irregular epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010273 ! Irregular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010021 name: Ivory epiphysis of the 1st metacarpal def: "The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0009191 ! Ivory epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010274 ! Ivory epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010022 name: Pseudoepiphysis of the 1st metacarpal def: "The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal." [HPO:probinson] comment: This feature can be seen for example in Holt-Oram Syndrome. is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010275 ! Pseudoepiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010023 name: Small epiphysis of the 1st metacarpal def: "Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms." [HPO:probinson] is_a: HP:0009194 ! Small epiphyses of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010276 ! Small epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010024 name: Epiphyseal stippling of the first metacarpal def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone." [HPO:probinson] synonym: "Stippling of the epiphysis of the 1st metacarpal" EXACT [] is_a: HP:0009195 ! Epiphyseal stippling of the metacarpals is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010277 ! Stippling of the epiphyses of the proximal phalanges of the hand property_value: HP:0040005 "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the `first metacarpal bone` (FMA:23899)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010025 name: Triangular epiphysis of the 1st metacarpal is_a: HP:0009171 ! Triangular epiphyses of the metacarpals is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010026 name: Aplasia/Hypoplasia of the 1st metacarpal def: "Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits)." [HPO:curators] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010027 name: Broad 1st metacarpal def: "Increased width of the 1st metacarapal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0001230 ! Broad metacarpals is_a: HP:0009852 ! Broad proximal phalanges of the hand is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010028 name: Bullet-shaped 1st metacarpal def: "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\")." [HPO:probinson] is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010029 name: Curved 1st metacarpal def: "A deviation from the normal straight shape of the first metacarpal." [HPO:probinson] is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010030 name: Osteolytic defects of the 1st metacarpal def: "Dissolution or degeneration of bone tissue of the 1st metacarpal." [HPO:probinson] comment: Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness'). is_a: HP:0001504 ! Metacarpal osteolysis is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010031 name: Patchy sclerosis of the 1st metacarpal def: "Uneven increase in bone density within the 1st metacarpal." [HPO:probinson] is_a: HP:0010009 ! Abnormality of the 1st metacarpal is_a: HP:0100914 ! Sclerosis of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010033 name: Triangular shaped 1st metacarpal def: "This term applies to a triangular shaped 1st metacarpal." [HPO:probinson] comment: In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above). is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010034 name: Short 1st metacarpal alt_id: HP:0001190 alt_id: HP:0001499 alt_id: HP:0005898 alt_id: HP:0006141 def: "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:probinson] subset: hposlim_core synonym: "First metacarpal hypoplasia" EXACT [] synonym: "First metacarpals hypoplastic" EXACT [] synonym: "Hypoplastic 1st metacarpal" EXACT [] synonym: "Short first metacarpal" EXACT [] synonym: "Short first metacarpals" EXACT [] xref: UMLS:C1849311 "Short first metacarpals" is_a: HP:0009660 ! Short phalanx of the thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal is_a: HP:0010049 ! Short metacarpal created_by: doelkens creation_date: 2009-05-27T04:24:50Z [Term] id: HP:0010035 name: Aplasia of the 1st metacarpal alt_id: HP:0006027 def: "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] synonym: "Absent first metacarpal" EXACT [] xref: UMLS:C1838610 "Absent first metacarpal" is_a: HP:0009659 ! Partial absence of thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones is_a: HP:0010242 ! Aplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:25:14Z [Term] id: HP:0010036 name: Aplasia/Hypoplasia of the 2nd metacarpal def: "Aplasia or Hypoplasia affecting the 2nd metacarpal." [HPO:curators] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010010 ! Abnormality of the 2nd metacarpal created_by: doelkens creation_date: 2009-05-27T04:34:44Z [Term] id: HP:0010037 name: Aplasia of the 2nd metacarpal is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:35:04Z [Term] id: HP:0010038 name: Short 2nd metacarpal alt_id: HP:0006231 def: "Short second metacarpal bone because of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic 2nd metacarpal" RELATED [] synonym: "Rudimentary 2nd metacarpal" EXACT [] xref: UMLS:C1969397 "Rudimentary 2nd metacarpal" is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010049 ! Short metacarpal property_value: HP:0040005 "Short `second metacarpal bone`(FMA:23900) because of developmental hypoplasia." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-27T04:35:04Z [Term] id: HP:0010039 name: Aplasia/Hypoplasia of the 3rd metacarpal def: "Aplasia or Hypoplasia affecting the 3rd metacarpal." [HPO:curators] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010011 ! Abnormality of the 3rd metacarpal created_by: doelkens creation_date: 2009-05-27T04:35:51Z [Term] id: HP:0010040 name: Aplasia of the 3rd metacarpal is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:36:08Z [Term] id: HP:0010041 name: Short 3rd metacarpal alt_id: HP:0005624 alt_id: HP:0006074 alt_id: HP:0006120 def: "Short third metacarpal bone." [HPO:probinson] synonym: "Hypoplastic 3rd metacarpal" EXACT [] synonym: "Short third metacarpals" EXACT [] synonym: "Small 3rd metacarpals" EXACT [] xref: UMLS:C1850631 "Short 3rd metacarpals" is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010049 ! Short metacarpal property_value: HP:0040005 "Short `third metacarpal bone`(FMA:23901)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-27T04:36:08Z [Term] id: HP:0010042 name: Aplasia/Hypoplasia of the 4th metacarpal def: "Aplasia or Hypoplasia affecting the 4th metacarpal." [HPO:curators] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010012 ! Abnormality of the 4th metacarpal created_by: doelkens creation_date: 2009-05-27T04:36:49Z [Term] id: HP:0010043 name: Aplasia of the 4th metacarpal is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:37:00Z [Term] id: HP:0010044 name: Short 4th metacarpal alt_id: HP:0005094 def: "Short fourth metacarpal bone." [HPO:probinson] synonym: "Hypoplastic fourth metacarpal" EXACT [] synonym: "Short 4th metacarpals" EXACT [] synonym: "Short fourth metacarpals" EXACT [] xref: UMLS:C1862312 "Short 4th metacarpal" is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010049 ! Short metacarpal property_value: HP:0040005 "Short `fourth metacarpal bone` (FMA:23902)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-27T04:37:00Z [Term] id: HP:0010045 name: Aplasia/Hypoplasia of the 5th metacarpal def: "Aplasia or Hypoplasia affecting the 5th metacarpal." [HPO:curators] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones is_a: HP:0010013 ! Abnormality of the 5th metacarpal created_by: doelkens creation_date: 2009-05-27T04:37:31Z [Term] id: HP:0010046 name: Aplasia of the 5th metacarpal alt_id: HP:0006103 synonym: "Absent 5th metacarpal" EXACT [] xref: UMLS:C1867929 "Absent 5th metacarpal" is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010048 ! Aplasia of metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:37:44Z [Term] id: HP:0010047 name: Short 5th metacarpal alt_id: HP:0005737 alt_id: HP:0006004 alt_id: HP:0006222 def: "Short fifth metacarpal bone." [HPO:probinson] synonym: "Fifth metacarpal hypoplasia" EXACT [] synonym: "Hypoplastic 5th metacarpal" EXACT [] synonym: "Short fifth metacarpal" EXACT [] synonym: "Short fifth metacarpals" EXACT [] xref: UMLS:C1846953 "Short fifth metacarpal" is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010049 ! Short metacarpal property_value: HP:0040005 "Short `fifth metacarpal bone`(FMA:23903)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-27T04:37:44Z [Term] id: HP:0010048 name: Aplasia of metacarpal bones alt_id: HP:0005911 def: "Developmental defect associated with absence of one or more metacarpal bones." [HPO:probinson] subset: hposlim_core synonym: "Absent metacarpal" EXACT [] synonym: "Absent metacarpals" EXACT [] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:40:58Z [Term] id: HP:0010049 name: Short metacarpal alt_id: HP:0001164 alt_id: HP:0005695 alt_id: HP:0005717 alt_id: HP:0005909 alt_id: HP:0006047 alt_id: HP:0006183 alt_id: HP:0006186 def: "Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal." [pmid:19125433] comment: Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm. subset: hposlim_core synonym: "Hypoplastic metacarpal" EXACT [] synonym: "Metacarpal hypoplasia" EXACT [] synonym: "SHORT METACARPAL BONES" RELATED [HPO:skoehler] synonym: "Short metacarpals" EXACT [] synonym: "Shortened metacarpals" EXACT [] synonym: "Shortening of metacarpals" EXACT [] xref: UMLS:C1837084 "Short metacarpals" is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:40:58Z [Term] id: HP:0010051 name: Deviation of the hallux alt_id: HP:0004700 def: "Displacement of the big toe from its normal position." [HPO:curators] synonym: "Displacement of the hallux" EXACT [] is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0100498 ! Deviation of toes property_value: HP:0040005 "Displacement of the `big toe` (FMA:25047) from its normal position." xsd:string {xref="HPO:curators"} created_by: doelkens creation_date: 2009-05-29T11:36:44Z [Term] id: HP:0010052 name: Abnormality of the proximal phalanx of the hallux def: "In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T11:47:46Z [Term] id: HP:0010053 name: Abnormality of the distal phalanx of the hallux is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T11:49:11Z [Term] id: HP:0010054 name: Abnormality of the first metatarsal bone def: "An anomaly of the first metatarsal bone." [HPO:probinson] comment: In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal. is_a: HP:0001832 ! Abnormality of the metatarsal bones property_value: HP:0040005 "An anomaly of the `first metatarsal bone`(FMA:24502)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T11:49:54Z [Term] id: HP:0010055 name: Broad hallux alt_id: HP:0001834 alt_id: HP:0003094 alt_id: HP:0004710 alt_id: HP:0005883 def: "Visible increase in width of the hallux without an increase in the dorso-ventral dimension." [pmid:19125433] comment: Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short. subset: hposlim_core synonym: "Abnormally broad great toes" EXACT [] synonym: "Broad great toe" EXACT [] synonym: "Broad great toes" EXACT [] synonym: "BROAD HALLUCES" EXACT [HPO:skoehler] xref: UMLS:C1855911 "Broad hallux" is_a: HP:0001837 ! Broad toe is_a: HP:0001844 ! Abnormality of the hallux created_by: doelkens creation_date: 2009-05-29T11:56:24Z [Term] id: HP:0010056 name: Abnormality of the epiphyses of the hallux is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010160 ! Abnormality of the epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010057 name: Abnormality of the phalanges of the hallux is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:00:08Z [Term] id: HP:0010058 name: Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010059 name: Broad hallux phalanx def: "An increase in width in one or more phalanges of the big toe." [HPO:probinson] synonym: "Broad phalanges of the hallux" EXACT [] is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010174 ! Broad phalanx of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010060 name: Bullet-shaped hallux phalanx def: "An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the hallux" EXACT [] is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010175 ! Bullet-shaped toe phalanx created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010061 name: Curved hallux phalanx def: "A deviation from the normal straight form of one or more phalanges of the big toe." [HPO:probinson] synonym: "Curved phalanges of the hallux" EXACT [] is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010176 ! Curved toe phalanx created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010062 name: Osteolytic defects of the phalanges of the hallux is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010063 name: Patchy sclerosis of hallux phalanx def: "Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the hallux" EXACT [] is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100930 ! Sclerosis of hallux phalanx created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010064 name: Symphalangism affecting the phalanges of the hallux alt_id: HP:0004687 synonym: "hallucal symphalangism" EXACT [] xref: UMLS:C1836216 "Hallucal symphalangism" is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010065 name: Triangular shaped phalanges of the hallux is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010180 ! Triangular shaped phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010066 name: Duplication of phalanx of hallux alt_id: HP:0001784 alt_id: HP:0005785 alt_id: HP:0005851 def: "Partial or complete duplication of one or more phalanx of big toe." [HPO:probinson] synonym: "Duplicated hallux" EXACT [] synonym: "Duplication of great toes" EXACT [] synonym: "Duplication of phalanx of big toe" EXACT [] synonym: "Hallucal duplication" EXACT [] synonym: "Partial/complete duplication of the phalanges of the hallux" NARROW [] is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010181 ! Duplication of phalanx of toe property_value: HP:0040005 "Partial or complete duplication of one or more `phalanx of big toe` (FMA:32884)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010067 name: Aplasia/hypoplasia of the 1st metatarsal def: "Absence or underdevelopment of the first metatarsal bone." [HPO:probinson] is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: HP:0040005 "Absence or underdevelopment of the `first metatarsal bone` (FMAID:24502)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010068 name: Broad first metatarsal alt_id: HP:0004709 alt_id: HP:0008085 alt_id: HP:0008139 def: "Increased side-to-side width of the first metatarsal bone." [HPO:probinson] synonym: "Broad 1st metatarsal" EXACT [] synonym: "Enlarged first metatarsal" EXACT [] xref: UMLS:C1855899 "Broad first metatarsal" is_a: HP:0001783 ! Broad metatarsal is_a: HP:0010054 ! Abnormality of the first metatarsal bone property_value: HP:0040005 "Increased side-to-side width of the `first metatarsal bone` (FMA:24502)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010069 name: Bullet-shaped 1st metatarsal def: "An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010070 name: Curved 1st metatarsal def: "A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone." [HPO:probinson] is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010071 name: Osteolytic defects of the 1st metatarsal def: "Dissolution or degeneration of bone tissue of the first metatarsal." [HPO:probinson] is_a: HP:0001473 ! Metatarsal osteolysis is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010072 name: Patchy sclerosis of the 1st metatarsal is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0100945 ! Sclerosis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010073 name: Synostosis involving the 1st metatarsal is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010074 name: Triangular shaped 1st metatarsal is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010065 ! Triangular shaped phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010075 name: Duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of the first metatarsal bone." [HPO:probinson] synonym: "Duplicated first metatarsals" EXACT [] xref: UMLS:C1851855 "Duplicated first metatarsals" is_a: HP:0001449 ! Duplication of metatarsal bones is_a: HP:0010054 ! Abnormality of the first metatarsal bone created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010076 name: Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010077 name: Broad distal phalanx of the hallux def: "An increase in width of the distal phalanx of the big toe." [HPO:probinson] is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010059 ! Broad hallux phalanx is_a: HP:0010186 ! Broad distal phalanx of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010078 name: Bullet-shaped distal phalanx of the hallux def: "An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx is_a: HP:0010187 ! Bullet-shaped distal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010079 name: Curved distal phalanx of the hallux def: "A deviation from the normal straight form of the distal phalanx of the big toe." [HPO:probinson] is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx is_a: HP:0010188 ! Curved distal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010080 name: Osteolytic defects of the distal phalanx of the hallux is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010081 name: Patchy sclerosis of the distal phalanx of the hallux is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0100944 ! Sclerosis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010082 name: Symphalangism affecting the distal phalanx of the hallux is_a: HP:0001859 ! Distal symphalangism (feet) is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux is_a: HP:0010191 ! Symphalangism affecting the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010083 name: Triangular shaped distal phalanx of the hallux is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux is_a: HP:0010192 ! Triangular shaped distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010084 name: Duplication of the distal phalanx of the hallux synonym: "Partial/complete duplication of the distal phalanx of the hallux" EXACT [] is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010066 ! Duplication of phalanx of hallux is_a: HP:0010193 ! Duplication of distal phalanx of toe created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010085 name: Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010086 name: Broad proximal phalanx of the hallux def: "Increased width of proximal phalanx of big toe." [HPO:probinson] synonym: "Broad proximal phalanx of the big toe" EXACT [] is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010059 ! Broad hallux phalanx is_a: HP:0010204 ! Broad proximal phalanx of toe property_value: HP:0040005 "Increased width of `proximal phalanx of big toe` (FMA:43252)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010087 name: Bullet-shaped proximal phalanx of the hallux def: "An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped hallux phalanx is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010088 name: Curved proximal phalanx of the hallux def: "A deviation from the normal straight form of the proximal phalanx of the big toe." [HPO:probinson] is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010061 ! Curved hallux phalanx is_a: HP:0010206 ! Curved proximal toe phalanx created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010089 name: Osteolytic defects of the proximal phalanx of the hallux is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux is_a: HP:0010198 ! Osteolytic defects of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010090 name: Patchy sclerosis of the proximal phalanx of the hallux is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010063 ! Patchy sclerosis of hallux phalanx is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0100943 ! Sclerosis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010091 name: Symphalangism affecting the proximal phalanx of the hallux is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux is_a: HP:0010200 ! Symphalangism affecting the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010092 name: Triangular shaped proximal phalanx of the hallux is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010065 ! Triangular shaped phalanges of the hallux is_a: HP:0010201 ! Triangular shaped middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010093 name: Duplication of the proximal phalanx of the hallux def: "Partial or complete duplication of the proximal phalanx of big toe." [HPO:sdoelken] is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010066 ! Duplication of phalanx of hallux is_a: HP:0010202 ! Duplication of middle phalanx of toe property_value: HP:0040005 "Partial or complete duplication of the `proximal phalanx of big toe` (FMA:43252)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010094 name: Complete duplication of the proximal phalanx of the hallux def: "Complete duplication of the proximal phalanx of big toe." [HPO:sdoelken] is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx property_value: HP:0040005 "Complete duplication of the `proximal phalanx of big toe` (FMA:43252)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010095 name: Partial duplication of the proximal phalanx of the hallux def: "Partial duplication of the proximal phalanx of big toe." [HPO:sdoelken] is_a: HP:0010093 ! Duplication of the proximal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux property_value: HP:0040005 "Partial duplication of the `proximal phalanx of big toe` (FMA:43252)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010096 name: Complete duplication of the distal phalanx of the hallux is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of hallux phalanx created_by: doelkens creation_date: 2009-05-29T12:19:30Z [Term] id: HP:0010097 name: Partial duplication of the distal phalanx of the hallux alt_id: HP:0008091 synonym: "Bifid distal phalanx of hallux" EXACT [] is_a: HP:0010084 ! Duplication of the distal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:19:30Z [Term] id: HP:0010098 name: Complete duplication of the 1st metatarsal alt_id: HP:0008121 def: "A developmental defect consisting in the complete duplication of the first metatarsal bone." [HPO:probinson] is_a: HP:0010075 ! Duplication of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T12:20:12Z [Term] id: HP:0010099 name: Partial duplication of the 1st metatarsal def: "A developmental defect consisting in the duplication of part of the first metatarsal bone." [HPO:probinson] is_a: HP:0010075 ! Duplication of the 1st metatarsal is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:20:12Z [Term] id: HP:0010100 name: Complete duplication of hallux phalanx def: "Complete duplication of one or more phalanx of big toe." [HPO:probinson] synonym: "Complete duplication of the phalanges of the hallux" EXACT [] is_a: HP:0010066 ! Duplication of phalanx of hallux property_value: HP:0040005 "Complete duplication of one or more `phalanx of big toe` (FMA:32884)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010101 name: Partial duplication of the phalanges of the hallux alt_id: HP:0004678 synonym: "partial duplication of hallux" EXACT [] is_a: HP:0010066 ! Duplication of phalanx of hallux created_by: doelkens creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010102 name: Aplasia of the distal phalanx of the hallux is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:41:37Z [Term] id: HP:0010103 name: Short distal phalanx of hallux def: "Underdevelopment (hypoplasia) of the distal phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the hallux" EXACT [] synonym: "Small distal phalanx of big toe" EXACT [] synonym: "Small distal phalanx of hallux" EXACT [] is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010111 ! Short phalanx of hallux property_value: HP:0040005 "Underdevelopment (hypoplasia) of the `distal phalanx of big toe` (FMA:32627)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:41:37Z [Term] id: HP:0010104 name: Absent first metatarsal alt_id: HP:0006124 def: "A developmental defect characterized by the absence of the first metatarsal bone." [HPO:probinson] synonym: "Absent 1st metatarsal" EXACT [] synonym: "Aplasia of the 1st metatarsal" EXACT [] xref: UMLS:C1863382 "Absent first metatarsal" is_a: HP:0010067 ! Aplasia/hypoplasia of the 1st metatarsal is_a: HP:0010744 ! Absent metatarsal bone property_value: HP:0040005 "A developmental defect characterized by the absence of the `first metatarsal bone` (FMAID:24502)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010105 name: Short first metatarsal alt_id: HP:0004680 def: "Short first metatarsal bone." [HPO:probinson] synonym: "First metatarsal hypoplasia" EXACT [] synonym: "First metatarsals hypoplastic" EXACT [] xref: UMLS:C1866003 "First metatarsal hypoplasia" is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010743 ! Short metatarsal property_value: HP:0040005 "Short `first metatarsal bone`(FMA:24502)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010106 name: Aplasia of the proximal phalanx of the hallux is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010110 ! Aplasia of the phalanges of the hallux is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:43:40Z [Term] id: HP:0010107 name: Short proximal phalanx of hallux alt_id: HP:0008101 alt_id: HP:0008129 def: "Underdevelopment (hypoplasia) of the proximal phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic proximal phalanx of the hallux" EXACT [] synonym: "Short proximal phalanges of halluces" EXACT [] synonym: "Short proximal phalanx of halluces" EXACT [] synonym: "Small proximal phalanx of big toe" EXACT [] synonym: "Small proximal phalanx of hallux" EXACT [] is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010111 ! Short phalanx of hallux property_value: HP:0040005 "Underdevelopment (hypoplasia) of the `proximal phalanx of big toe` (FMA:43252)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:43:40Z [Term] id: HP:0010109 name: Short hallux alt_id: HP:0001843 alt_id: HP:0001861 alt_id: HP:0005610 alt_id: HP:0008105 def: "Underdevelopment (hypoplasia) of the big toe." [HPO:probinson] synonym: "Hypoplastic big toes" EXACT [] synonym: "Hypoplastic hallux" EXACT [] synonym: "Short halluces" EXACT [] synonym: "Small hallux" EXACT [] is_a: HP:0001831 ! Short toe is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux property_value: HP:0040005 "Underdevelopment (hypoplasia) of the `big toe` (FMA:25047)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:46:14Z [Term] id: HP:0010110 name: Aplasia of the phalanges of the hallux is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010111 name: Short phalanx of hallux def: "Underdevelopment (hypoplasia) of a phalanx of big toe." [HPO:probinson] synonym: "Hypoplastic phalanges of the hallux" EXACT [] is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010109 ! Short hallux is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes property_value: HP:0040005 "Underdevelopment (hypoplasia) of a `phalanx of big toe` (FMA:32884)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010112 name: Mesoaxial foot polydactyly def: "The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly." [HPO:probinson] subset: hposlim_core synonym: "Central polydactyly (feet)" EXACT [] is_a: HP:0001829 ! Foot polydactyly is_a: HP:0100260 ! Mesoaxial polydactyly created_by: doelkens creation_date: 2009-05-29T01:11:06Z [Term] id: HP:0010113 name: Absent hallux epiphysis def: "Failure to form (agenesis) of one or more epiphyses of the big toe." [HPO:probinson] synonym: "Absent epiphyses of the hallux" EXACT [] is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010162 ! Absent epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010114 name: Bracket epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010163 ! Bracket epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010115 name: Cone-shaped epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010164 ! Cone-shaped epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010116 name: Enlarged epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010165 ! Enlarged epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010117 name: Fragmentation of the epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010118 name: Irregular epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010167 ! Irregular epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010119 name: Ivory epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010168 ! Ivory epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010120 name: Pseudoepiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010169 ! Pseudoepiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010121 name: Small epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010170 ! Small epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010122 name: Stippling of the epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010123 name: Triangular epiphyses of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010172 ! Triangular epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010124 name: Abnormality of the epiphysis of the distal phalanx of the hallux is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010125 name: Abnormality of the epiphysis of the 1st metatarsal def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone." [HPO:curators] is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010126 name: Abnormality of the epiphysis of the proximal phalanx of the hallux def: "In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux." [HPO:curators] is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux created_by: doelkens creation_date: 2009-05-29T01:17:54Z [Term] id: HP:0010127 name: Absent epiphysis of the proximal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux." [HPO:probinson] is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010128 name: Bracket epiphysis of the proximal phalanx of the hallux def: "The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson] is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010129 name: Cone-shaped epiphysis of the proximal phalanx of the hallux is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010130 name: Enlarged epiphysis of the proximal phalanx of the hallux is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010131 name: Fragmentation of the epiphysis of the proximal phalanx of the hallux is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010132 name: Irregular epiphysis of the proximal phalanx of the hallux is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010133 name: Ivory epiphysis of the proximal phalanx of the hallux is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010134 name: Pseudoepiphysis of the proximal phalanx of the hallux is_a: HP:0010120 ! Pseudoepiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010135 name: Small epiphysis of the proximal phalanx of the hallux is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010136 name: Stippling of the epiphysis of the proximal phalanx of the hallux is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010137 name: Triangular epiphysis of the proximal phalanx of the hallux is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010126 ! Abnormality of the epiphysis of the proximal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:23Z [Term] id: HP:0010138 name: Absent epiphysis of the distal phalanx of the hallux def: "Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux." [HPO:probinson] is_a: HP:0010113 ! Absent hallux epiphysis is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010139 name: Bracket epiphysis of the distal phalanx of the hallux def: "The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form." [HPO:probinson] is_a: HP:0010114 ! Bracket epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010140 name: Cone-shaped epiphysis of the distal phalanx of the hallux is_a: HP:0010115 ! Cone-shaped epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010141 name: Enlarged epiphysis of the distal phalanx of the hallux is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010142 name: Fragmentation of the epiphysis of the distal phalanx of the hallux is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010143 name: Irregular epiphysis of the distal phalanx of the hallux is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010144 name: Ivory epiphysis of the distal phalanx of the hallux is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010145 name: Pseudoepiphysis of the distal phalanx of the hallux is_a: HP:0010120 ! Pseudoepiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010146 name: Small epiphysis of the distal phalanx of the hallux is_a: HP:0010121 ! Small epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010147 name: Stippling of the epiphysis of the distal phalanx of the hallux is_a: HP:0010122 ! Stippling of the epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010148 name: Triangular epiphysis of the distal phalanx of the hallux is_a: HP:0010123 ! Triangular epiphyses of the hallux is_a: HP:0010124 ! Abnormality of the epiphysis of the distal phalanx of the hallux created_by: doelkens creation_date: 2009-05-29T01:22:47Z [Term] id: HP:0010149 name: Absent epiphysis of the 1st metatarsal def: "Failure to form (agenesis) of the epiphysis of the 1st metatarsal." [HPO:probinson] is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010150 name: Bracket epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form." [HPO:probinson] is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010151 name: Cone-shaped epiphysis of the 1st metatarsal def: "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot." [HPO:curators] is_a: HP:0010054 ! Abnormality of the first metatarsal bone is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal is_a: HP:0010630 ! Abnormality of metatarsal epiphysis created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010152 name: Enlarged epiphysis of the 1st metatarsal is_a: HP:0010116 ! Enlarged epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010153 name: Fragmentation of the epiphysis of the 1st metatarsal is_a: HP:0010117 ! Fragmentation of the epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010154 name: Irregular epiphysis of the 1st metatarsal is_a: HP:0010118 ! Irregular epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010155 name: Ivory epiphysis of the 1st metatarsal def: "The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0010119 ! Ivory epiphyses of the hallux is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010156 name: Pseudoepiphysis of the 1st metatarsal is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010157 name: Small epiphysis of the 1st metatarsal is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010158 name: Stippling of the epiphysis of the 1st metatarsal is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010159 name: Triangular epiphysis of the 1st metatarsal is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010160 name: Abnormality of the epiphyses of the toes is_a: HP:0001780 ! Abnormality of toe is_a: HP:0010631 ! Abnormality of the epiphyses of the feet created_by: doelkens creation_date: 2009-05-29T01:30:42Z [Term] id: HP:0010161 name: Abnormality of the phalanges of the toes is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2009-05-29T01:31:17Z [Term] id: HP:0010162 name: Absent epiphyses of the toes def: "Absence of the epiphyses of the phalanges of the toes." [HPO:sdoelken] is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010577 ! Absent epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010163 name: Bracket epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010578 ! Bracket epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010164 name: Cone-shaped epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010579 ! Cone-shaped epiphysis created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010165 name: Enlarged epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010580 ! Enlarged epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010166 name: Fragmentation of the epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0100168 ! Fragmented epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010167 name: Irregular epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010582 ! Irregular epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010168 name: Ivory epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010583 ! Ivory epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010169 name: Pseudoepiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010584 ! Pseudoepiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010170 name: Small epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010585 ! Small epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010171 name: Epiphyseal stippling of toe phalanges def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [HPO:probinson] synonym: "Stippling of the epiphyses of the toes" EXACT [] is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010655 ! Epiphyseal stippling created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010172 name: Triangular epiphyses of the toes is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010587 ! Triangular epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010173 name: Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010174 name: Broad phalanx of the toes def: "Increased width of phalanx of toe of one or more toes." [HPO:probinson] is_a: HP:0006009 ! Broad phalanx is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "Increased width of `phalanx of toe` (FMA:24493) of one or more toes." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010175 name: Bullet-shaped toe phalanx def: "An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the toes" EXACT [] is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010176 name: Curved toe phalanx def: "A deviation from the normal straight form of one or more toe phalanges." [HPO:probinson] synonym: "Curved phalanges of the toes" EXACT [] is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010177 name: Osteolytic defects of the phalanges of the toes is_a: HP:0009134 ! Osteolysis involving bones of the feet is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010178 name: Patchy sclerosis of toe phalanx def: "Uneven (irregular) increase in bone density of one or more of the phalanges of the hand." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the toes" EXACT [] is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0100924 ! Sclerosis of toe phalanx created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010179 name: Symphalangism affecting the phalanges of the toes is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010180 name: Triangular shaped phalanges of the toes is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010181 name: Duplication of phalanx of toe def: "Partial/complete duplication of one or more phalanx of toe." [HPO:probinson] synonym: "Partial/complete duplication of the phalanges of the toes" EXACT [] is_a: HP:0010161 ! Abnormality of the phalanges of the toes property_value: HP:0040005 "Partial/complete duplication of one or more `phalanx of toe` (FMA:24493)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010182 name: Abnormality of the distal phalanges of the toes is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010183 name: Abnormality of the middle phalanges of the toes is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010184 name: Abnormality of toe proximal phalanx def: "A morphological anomaly of one or more proximal phalanges of one or more toes." [HPO:probinson] synonym: "Abnormality of the proximal phalanges of the toes" EXACT [] is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:51:38Z [Term] id: HP:0010185 name: Aplasia/Hypoplasia of the distal phalanges of the toes alt_id: HP:0005735 alt_id: HP:0005818 def: "Absence or underdevelopment of the distal phalanges of the toes." [HPO:probinson] synonym: "Absent/hypoplastic terminal phalanges of toes" EXACT [] synonym: "Hypoplasia/agenesis of distal phalanges of toes" RELATED [] is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010186 name: Broad distal phalanx of the toes def: "Increased width of the distal phalanx of toe of one or more toes." [HPO:probinson] is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: HP:0040005 "Increased width of the `distal phalanx of toe` (FMA:75830) of one or more toes." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010187 name: Bullet-shaped distal toe phalanx def: "An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped distal phalanges of the toes" EXACT [] is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010188 name: Curved distal toe phalanx def: "A deviation from the normal straight form of one or more distal toe phalanges." [HPO:probinson] synonym: "Curved distal phalanges of the toes" EXACT [] is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010189 name: Osteolytic defects of the distal phalanges of the toes is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010190 name: Patchy sclerosis of distal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the distal phalanges of the toes" EXACT [] is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010191 name: Symphalangism affecting the distal phalanges of the toes is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010192 name: Triangular shaped distal phalanges of the toes is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010193 name: Duplication of distal phalanx of toe def: "A partial or complete duplication of one or more distal phalanx of toe." [HPO:sdoelken] synonym: "Partial/complete duplication of the distal phalanges of the toes" EXACT [] is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes property_value: HP:0040005 "A partial or complete duplication of one or more `distal phalanx of toe` (FMA:75830)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-29T01:52:41Z [Term] id: HP:0010194 name: Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010195 name: Broad middle phalanges of the toes is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010196 name: Bullet-shaped middle toe phalanx def: "An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped middle phalanges of the toes" EXACT [] is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010197 name: Curved middle toe phalanx def: "A deviation from the normal straight form of one or more middle toe phalanges." [HPO:probinson] synonym: "Curved middle phalanges of the toes" EXACT [] is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010198 name: Osteolytic defects of the middle phalanges of the toes is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010199 name: Patchy sclerosis of middle toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the middle phalanges of the toes" EXACT [] is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010200 name: Symphalangism affecting the middle phalanges of the toes is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010201 name: Triangular shaped middle phalanges of the toes is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010202 name: Duplication of middle phalanx of toe def: "Partial or complete duplication of a middle phalanx of toe." [HPO:probinson] synonym: "Partial/complete duplication of the middle phalanges of the toes" EXACT [] is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes property_value: HP:0040005 "Partial or complete duplication of a `middle phalanx of toe` (FMA:75829)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-05-29T01:53:35Z [Term] id: HP:0010203 name: Aplasia/hypoplasia of proximal toe phalanx def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes." [HPO:probinson] synonym: "Aplasia/Hypoplasia of the proximal phalanges of the toes" EXACT [] is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010204 name: Broad proximal phalanx of toe def: "An increase in width of one ore more proximal toe phalanges." [HPO:probinson] is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010205 name: Bullet-shaped proximal toe phalanx def: "An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped proximal phalanges of the toes" EXACT [] synonym: "Bullet-shaped proximal phalanges of toe" EXACT [] is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010206 name: Curved proximal toe phalanx def: "A deviation from the normal straight shape of a proximal phalanx of one or more toes." [HPO:probinson] synonym: "Curved proximal phalanges of the toes" EXACT [] is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010207 name: Osteolytic defect of the proximal toe phalanx def: "Dissolution or degeneration of bone tissue of the proximal toe phalanx." [HPO:probinson] synonym: "Osteolytic defects of the proximal phalanges of the toes" EXACT [] is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010208 name: Patchy sclerosis of proximal toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the proximal phalanges of the toes" EXACT [] is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010209 name: Symphalangism affecting the proximal phalanges of the toes is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010210 name: Triangular shaped proximal phalanges of the toes is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010184 ! Abnormality of toe proximal phalanx created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010211 name: Duplication of proximal phalanx of toe def: "Partial/complete duplication of a proximal phalanx of toe." [HPO:sdoelken] synonym: "Partial/complete duplication of the proximal phalanges of the toes" EXACT [] is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: HP:0040005 "Partial/complete duplication of a `proximal phalanx of toe` (FMA:75828)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010212 name: Flexion contracture of the hallux def: "One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contracture of the hallux" EXACT [] is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0005830 ! Flexion contracture of toe created_by: doelkens creation_date: 2009-06-02T01:39:18Z [Term] id: HP:0010213 name: Contracture of the tarsometatarsal joint of the hallux def: "Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints." [HPO:probinson] is_a: HP:0010212 ! Flexion contracture of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010214 name: Contracture of the interphalangeal joint of the hallux def: "The interphalangeal joint of the big toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010212 ! Flexion contracture of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010215 name: Contractures of the metatarsophalangeal joint of the hallux def: "The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010212 ! Flexion contracture of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010219 name: Structural foot deformity def: "A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies." [HPO:curators] is_a: HP:0001760 ! Abnormality of the foot created_by: doelkens creation_date: 2009-06-04T05:14:38Z [Term] id: HP:0010220 name: Abnormality of the epiphysis of the 2nd metacarpal def: "Any abnormality of the epiphysis of the second metacarpal bone." [HPO:curators] is_a: HP:0010010 ! Abnormality of the 2nd metacarpal created_by: doelkens creation_date: 2009-07-02T04:07:33Z [Term] id: HP:0010221 name: Pseudoepiphysis of the 2nd metacarpal def: "The normal epiphysis of the second metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] is_a: HP:0010220 ! Abnormality of the epiphysis of the 2nd metacarpal created_by: doelkens creation_date: 2009-07-02T04:08:00Z [Term] id: HP:0010222 name: Abnormality of the epiphysis of the 3rd metacarpal def: "Any abnormality of the epiphysis of the third metacarpal bone." [HPO:curators] is_a: HP:0010011 ! Abnormality of the 3rd metacarpal created_by: doelkens creation_date: 2009-07-02T04:10:28Z [Term] id: HP:0010223 name: Pseudoepiphysis of the 3rd metacarpal def: "The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] is_a: HP:0010222 ! Abnormality of the epiphysis of the 3rd metacarpal created_by: doelkens creation_date: 2009-07-02T04:10:52Z [Term] id: HP:0010224 name: Abnormality of the epiphysis of the 4th metacarpal def: "Any abnormality of the epiphysis of the 4th metacarpal bone." [HPO:curators] is_a: HP:0010012 ! Abnormality of the 4th metacarpal created_by: doelkens creation_date: 2009-07-02T04:11:46Z [Term] id: HP:0010225 name: Pseudoepiphysis of the 4th metacarpal def: "The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] is_a: HP:0010224 ! Abnormality of the epiphysis of the 4th metacarpal created_by: doelkens creation_date: 2009-07-02T04:12:04Z [Term] id: HP:0010226 name: Abnormality of the epiphysis of the 5th metacarpal def: "Any abnormality of the epiphysis of the fifth metacarpal bone." [HPO:curators] is_a: HP:0010013 ! Abnormality of the 5th metacarpal created_by: doelkens creation_date: 2009-07-02T04:13:00Z [Term] id: HP:0010227 name: Pseudoepiphysis of the 5th metacarpal def: "The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present." [HPO:curators] is_a: HP:0010226 ! Abnormality of the epiphysis of the 5th metacarpal created_by: doelkens creation_date: 2009-07-02T04:13:20Z [Term] id: HP:0010228 name: Absent epiphyses of the phalanges of the hand alt_id: HP:0009359 def: "Absence of one or more epiphyses of the phalanges fingers." [HPO:curators] synonym: "Absent epiphyses of the fingers" EXACT [] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010577 ! Absent epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010229 name: Bracket epiphyses of the phalanges of the hand alt_id: HP:0009360 def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:probinson] synonym: "Bracket epiphyses of the fingers" EXACT [] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010578 ! Bracket epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010230 name: Cone-shaped epiphyses of the phalanges of the hand alt_id: HP:0001175 alt_id: HP:0001207 alt_id: HP:0001242 alt_id: HP:0003766 alt_id: HP:0005803 alt_id: HP:0009361 def: "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] synonym: "Cone-shaped epiphyses (hand)" EXACT [] synonym: "Cone-shaped epiphyses of phalanges" EXACT [] synonym: "Cone-shaped epiphyses of the fingers" EXACT [] synonym: "Cone-shaped phalangeal epiphyses" EXACT [] synonym: "Coned epiphyses" EXACT [] synonym: "Coned epiphyses of hands" EXACT [] synonym: "Conical phalangeal epiphyses" EXACT [] synonym: "Phalangeal cone-shaped epiphyses" EXACT [] xref: UMLS:C1846954 "Coned epiphyses" is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010579 ! Cone-shaped epiphysis created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010231 name: Enlarged epiphyses of the phalanges of the hand alt_id: HP:0006023 alt_id: HP:0009362 def: "Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators] synonym: "Enlarged epiphyses of the fingers" EXACT [] synonym: "Enlarged phalangeal epiphyses" EXACT [] xref: UMLS:C1865036 "Enlarged phalangeal epiphyses" is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010580 ! Enlarged epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010232 name: Fragmentation of the epiphyses of the phalanges of the hand alt_id: HP:0009363 def: "Fragmented appearance of the epiphyses of the phalanges of the fingers." [HPO:curators] synonym: "Fragmentation of the epiphyses of the fingers" EXACT [] is_a: HP:0003841 ! Fragmented epiphyses of the upper limbs is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010233 name: Irregular epiphyses of the phalanges of the hand alt_id: HP:0009364 def: "Irregular radiographic opacity of the epiphyses of the phalanges of the fingers." [HPO:curators] synonym: "Irregular epiphyses of the fingers" EXACT [] is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010234 name: Ivory epiphyses of the phalanges of the hand alt_id: HP:0001210 alt_id: HP:0009365 def: "Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Ivory epiphyses of the fingers" EXACT [] synonym: "Sclerotic ivory phalangeal epiphyses" EXACT [] xref: UMLS:C1857651 "Sclerotic ivory phalangeal epiphyses" is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010583 ! Ivory epiphyses is_a: HP:0011001 ! Increased bone mineral density is_a: HP:0100899 ! Sclerosis of finger phalanx created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010235 name: Pseudoepiphyses of the phalanges of the hand alt_id: HP:0009366 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] synonym: "Pseudoepiphysis of the fingers" EXACT [] is_a: HP:0004288 ! Pseudoepiphyses of hand bones is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010236 name: Small epiphyses of the phalanges of the hand alt_id: HP:0009367 def: "Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms." [HPO:curators] synonym: "Small epiphyses of the fingers" EXACT [] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010585 ! Small epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010237 name: Epiphyseal stippling of finger phalanges alt_id: HP:0009368 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [HPO:probinson] synonym: "Stippling of the epiphyses of the fingers" EXACT [] synonym: "Stippling of the epiphyses of the phalanges of the hand" EXACT [] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010655 ! Epiphyseal stippling is_a: HP:0010660 ! Abnormal hand bone ossification created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010238 name: Triangular epiphyses of the phalanges of the hand alt_id: HP:0009369 def: "A triangular appearance of the epiphyses of the phalanges of the fingers of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the fingers" EXACT [] synonym: "Triangular epiphyses of the fingers" EXACT [] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010587 ! Triangular epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010239 name: Aplasia of the middle phalanx of the hand alt_id: HP:0005778 def: "Absence of one or more middle phalanx of a finger." [HPO:probinson] synonym: "Absent middle phalanges" EXACT [] synonym: "Missing middle phalanges" EXACT [] xref: UMLS:C1862098 "Absent middle phalanges" is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T03:59:39Z [Term] id: HP:0010241 name: Short proximal phalanx of finger alt_id: HP:0005670 alt_id: HP:0006138 def: "Congenital hypoplasia of one or more proximal phalanx of finger." [HPO:probinson] synonym: "Hypoplasia of the proximal phalanges of the hand" EXACT [] synonym: "Short proximal phalanges" EXACT [] synonym: "Shortening in proximal phalanges" EXACT [] xref: UMLS:C1860606 "Short proximal phalanges" is_a: HP:0009381 ! Short finger is_a: HP:0009803 ! Short phalanx of finger is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand property_value: HP:0040005 "Congenital hypoplasia of one or more `proximal phalanx of finger` (FMA:75816)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-06T04:00:44Z [Term] id: HP:0010242 name: Aplasia of the proximal phalanges of the hand alt_id: HP:0006102 synonym: "Absent proximal phalanges" EXACT [] is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009802 ! Aplasia of the phalanges of the hand is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:01:02Z [Term] id: HP:0010243 name: Abnormality of the epiphyses of the distal phalanx of finger def: "Any anomal of distal epiphysis of phalanx of finger." [HPO:probinson] is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger property_value: HP:0040005 "Any anomal of `distal epiphysis of phalanx of finger` (FMA:226577)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010244 name: Abnormality of the epiphyses of the middle phalanges of the hand is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010245 name: Abnormality of the epiphyses of the proximal phalanges of the hand is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:21:32Z [Term] id: HP:0010246 name: Absent epiphyses of the distal phalanges of the hand is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010247 name: Bracket epiphyses of the distal phalanges of the hand is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010248 name: Cone-shaped epiphyses of the distal phalanges of the hand is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010249 name: Enlarged epiphyses of the distal phalanges of the hand is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010250 name: Fragmentation of the epiphyses of the distal phalanges of the hand is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010251 name: Irregular epiphyses of the distal phalanges of the hand is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010252 name: Ivory epiphyses of the distal phalanges of the hand alt_id: HP:0006105 def: "Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] synonym: "Eburnated epiphyses of distal phalanges" EXACT [] is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger is_a: HP:0100915 ! Sclerosis of distal finger phalanx created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010253 name: Pseudoepiphyses of the distal phalanges of the hand is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010254 name: Small epiphyses of the distal phalanges of the hand is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010255 name: Stippling of the epiphyses of the distal phalanges of the hand is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010256 name: Triangular epiphyses of the distal phalanges of the hand is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanx of finger created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010257 name: Absent epiphyses of the middle phalanges of the hand is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010258 name: Bracket epiphyses of the middle phalanges of the hand is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010259 name: Cone-shaped epiphyses of the middle phalanges of the hand alt_id: HP:0006033 alt_id: HP:0006058 synonym: "Cone-shaped epiphyses of middle phalanges" EXACT [] is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010260 name: Enlarged epiphyses of the middle phalanges of the hand is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010261 name: Fragmentation of the epiphyses of the middle phalanges of the hand def: "Fragmented appearance of the epiphyses of the middle phalanges of the hand." [HPO:curators] is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010262 name: Irregular epiphyses of the middle phalanges of the hand is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010263 name: Ivory epiphyses of the middle phalanges of the hand def: "Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand is_a: HP:0100916 ! Sclerosis of middle finger phalanx created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010264 name: Pseudoepiphyses of the middle phalanges of the hand is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010265 name: Small epiphyses of the middle phalanges of the hand is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010266 name: Stippling of the epiphyses of the middle phalanges of the hand is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010267 name: Triangular epiphyses of the middle phalanges of the hand is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010244 ! Abnormality of the epiphyses of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010268 name: Absent epiphyses of the proximal phalanges of the hand is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010269 name: Bracket epiphyses of the proximal phalanges of the hand is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010270 name: Cone-shaped epiphyses of the proximal phalanges of the hand is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010271 name: Enlarged epiphyses of the proximal phalanges of the hand is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010272 name: Fragmentation of the epiphyses of the proximal phalanges of the hand is_a: HP:0010232 ! Fragmentation of the epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010273 name: Irregular epiphyses of the proximal phalanges of the hand is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010274 name: Ivory epiphyses of the proximal phalanges of the hand def: "Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand is_a: HP:0100917 ! Sclerosis of proximal finger phalanx created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010275 name: Pseudoepiphyses of the proximal phalanges of the hand is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010276 name: Small epiphyses of the proximal phalanges of the hand is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010277 name: Stippling of the epiphyses of the proximal phalanges of the hand is_a: HP:0010237 ! Epiphyseal stippling of finger phalanges is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010278 name: Triangular epiphyses of the proximal phalanges of the hand is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010245 ! Abnormality of the epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010280 name: Stomatitis def: "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:probinson] subset: hposlim_core xref: MeSH:D013280 "Stomatitis" xref: SNOMEDCT:61170000 "Stomatitis" xref: UMLS:C0038362 "Stomatitis" is_a: HP:0011830 ! Abnormality of oral mucosa created_by: peter creation_date: 2009-07-12T09:48:56Z [Term] id: HP:0010281 name: Cleft lower lip def: "A gap in the lower lip." [HPO:probinson] subset: hposlim_core synonym: "Cleft of the lower lip" EXACT [] is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0000202 ! Oral cleft created_by: peter creation_date: 2009-07-12T09:50:34Z [Term] id: HP:0010282 name: Thin lower lip vermilion def: "Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual. synonym: "Thin lower lip" EXACT [] xref: UMLS:C2053440 "thin lower lip" is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0000233 ! Thin vermilion border created_by: peter creation_date: 2009-07-12T10:17:22Z [Term] id: HP:0010284 name: Intra-oral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the mucosa of the mouth." [pmid:19125428] comment: Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation. subset: hposlim_core xref: SNOMEDCT:249405005 "Pigmentation of oral mucosa" xref: UMLS:C0426517 "Pigmentation of oral mucosa" is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa property_value: HP:0040005 "Increased pigmentation, either focal or generalized, of the `mucosa of the mouth` (FMA:59660)." xsd:string {xref="pmid:19125428"} created_by: peter creation_date: 2009-07-12T10:33:11Z [Term] id: HP:0010285 name: Oral synechia def: "Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges." [pmid:19125428] comment: These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead. subset: hposlim_core is_a: HP:0011830 ! Abnormality of oral mucosa created_by: peter creation_date: 2009-07-12T10:37:03Z [Term] id: HP:0010286 name: Abnormality of the salivary glands def: "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [HPO:probinson] subset: hposlim_core synonym: "Salivary gland disease" RELATED [] is_a: HP:0000163 ! Abnormality of the oral cavity created_by: peter creation_date: 2009-07-12T10:38:51Z [Term] id: HP:0010287 name: Abnormality of the submandibular glands def: "Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles." [HPO:curators] is_a: HP:0010286 ! Abnormality of the salivary glands created_by: peter creation_date: 2009-07-12T10:41:17Z [Term] id: HP:0010288 name: Abnormality of the sublingual glands def: "Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands." [HPO:curators] is_a: HP:0010286 ! Abnormality of the salivary glands created_by: peter creation_date: 2009-07-12T10:42:35Z [Term] id: HP:0010289 name: Alveolar ridge cleft def: "A gap (cleft) affecting one of the alveolar ridges." [HPO:probinson] subset: hposlim_core synonym: "Gingival cleft" EXACT [] xref: SNOMEDCT:109622003 "Gingival cleft" xref: UMLS:C0426489 "Gingival cleft" is_a: HP:0006477 ! Abnormality of the alveolar ridges created_by: peter creation_date: 2009-07-12T10:47:29Z [Term] id: HP:0010290 name: Short hard palate def: "Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective)." [pmid:19125428] comment: Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence. synonym: "Hypoplastic palate" RELATED [] synonym: "Short palate" RELATED [] xref: UMLS:C1398301 "Short palate" is_a: HP:0100737 ! Abnormality of the hard palate created_by: peter creation_date: 2009-07-12T11:28:44Z [Term] id: HP:0010291 name: Prominent palatine ridges def: "Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge." [pmid:19125428] comment: Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly. subset: hposlim_core synonym: "Prominent lateral palatal ridges" EXACT [] synonym: "Prominent palatine folds" EXACT [] is_a: HP:0000174 ! Abnormality of the palate created_by: peter creation_date: 2009-07-12T11:33:40Z [Term] id: HP:0010292 name: Absent uvula def: "Lack of the uvula." [pmid:19125428] comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately. subset: hposlim_core synonym: "Congenital absence of uvula" EXACT [] synonym: "Uvula aplasia" EXACT [] xref: SNOMEDCT:25148007 "Congenital absence of uvula" xref: UMLS:C0266121 "Absent uvula" xref: UMLS:C1096050 "Uvula aplasia" is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula property_value: HP:0040005 "Lack of the `uvula` (FMA:55022)." xsd:string {xref="pmid:19125428"} created_by: peter creation_date: 2009-07-12T11:36:21Z [Term] id: HP:0010293 name: Aplasia/Hypoplasia of the uvula def: "Underdevelopment or absence of the uvula." [HPO:curators] is_a: HP:0000172 ! Abnormality of the uvula property_value: HP:0040005 "Underdevelopment or absence of the `uvula` (FMA:55022)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-07-12T11:36:52Z [Term] id: HP:0010294 name: Palate fistula def: "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [HPO:probinson] is_a: HP:0000174 ! Abnormality of the palate created_by: peter creation_date: 2009-07-12T11:39:52Z [Term] id: HP:0010295 name: Aplasia/Hypoplasia of the tongue def: "Absence or underdevelopment of the tongue." [HPO:curators] is_a: HP:0000157 ! Abnormality of the tongue property_value: HP:0040005 "Absence or underdevelopment of the `tongue` (FMA:54640)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-07-12T11:41:04Z [Term] id: HP:0010296 name: Ankyloglossia def: "Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue." [pmid:19125428] comment: The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue. synonym: "Tongue tie" RELATED [] xref: SNOMEDCT:67787004 "Tongue tie" xref: UMLS:C0152415 "Ankyloglossia" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000190 ! Abnormality of oral frenula property_value: HP:0040005 "Short or anteriorly attached `lingual frenulum` (FMA:59820), associated with limited mobility of the `tongue` (FMA:54640)." xsd:string {xref="pmid:19125428"} created_by: peter creation_date: 2009-07-12T11:44:22Z [Term] id: HP:0010297 name: Bifid tongue def: "Tongue with a median apical indentation or fork." [pmid:19125428] comment: Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue. subset: hposlim_core synonym: "Split tongue" EXACT [] xref: SNOMEDCT:84557007 "Bifid tongue" xref: UMLS:C0266111 "Bifid tongue" is_a: HP:0000157 ! Abnormality of the tongue property_value: HP:0040005 "`Tongue` (FMA:54640) with a median apical indentation or fork." xsd:string {xref="pmid:19125428"} created_by: peter creation_date: 2009-07-12T11:47:28Z [Term] id: HP:0010298 name: Smooth tongue def: "Glossy appearance of the entire tongue surface." [pmid:19125428] comment: This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue. subset: hposlim_core xref: UMLS:C0241433 "Smooth tongue" is_a: HP:0000157 ! Abnormality of the tongue created_by: peter creation_date: 2009-07-12T11:58:17Z [Term] id: HP:0010299 name: Abnormality of dentin def: "Any abnormality of dentin." [HPO:probinson] comment: Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp. subset: hposlim_core synonym: "Abnormal dentin" EXACT [HPO:skoehler] is_a: HP:0011061 ! Abnormality of dental structure property_value: HP:0040005 "Any abnormality of `dentin` (FMA:55628)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-07-12T12:11:14Z [Term] id: HP:0010300 name: Abnormally low-pitched voice def: "An abnormally low-pitched voice." [HPO:curators] is_a: HP:0001608 ! Abnormality of the voice created_by: peter creation_date: 2009-07-12T12:19:22Z [Term] id: HP:0010301 name: Spinal dysraphism def: "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [HPO:probinson] comment: Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta. synonym: "Incomplete closure of the vertebral arch" EXACT [HPO:sdoelken] synonym: "Neural tube defect" EXACT [] xref: MeSH:D016135 "Spinal Dysraphism" xref: UMLS:C0080178 "Spinal Dysraphism" is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0045005 ! Abnormality of neural tube closure created_by: peter creation_date: 2009-07-12T12:58:04Z [Term] id: HP:0010302 name: Spinal cord tumor alt_id: HP:0009712 def: "A neoplasm affecting the spinal cord." [HPO:probinson] synonym: "Spinal tumor" RELATED [] synonym: "SPINAL TUMORS" RELATED [HPO:skoehler] synonym: "Tumor of the spinal cord" EXACT [] xref: MeSH:D013120 "Spinal cprd neoplasms" xref: UMLS:C0037930 "Spinal tumor" is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0100006 ! Neoplasm of the central nervous system property_value: HP:0040005 "A `neoplasm` (MPATH:218) affecting the `spinal cord` (FMA:7647)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-07-12T01:05:50Z [Term] id: HP:0010303 name: Abnormality of the spinal meninges def: "Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord." [HPO:curators] is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0010651 ! Abnormality of the meninges created_by: peter creation_date: 2009-07-12T01:10:09Z [Term] id: HP:0010304 name: Spinal meningeal diverticulum def: "An outpouching of the spinal meninges." [HPO:curators] is_a: HP:0010303 ! Abnormality of the spinal meninges created_by: peter creation_date: 2009-07-12T01:11:53Z [Term] id: HP:0010305 name: Absence of the sacrum def: "Absence (aplasia) of the sacrum." [HPO:probinson] subset: hposlim_core synonym: "Absent sacrum" EXACT [] is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum created_by: peter creation_date: 2009-07-12T01:13:26Z [Term] id: HP:0010306 name: Short thorax def: "Reduced inferior to superior extent of the thorax." [HPO:curators] xref: UMLS:C0426789 "Short thorax" is_a: HP:0000765 ! Abnormality of the thorax created_by: peter creation_date: 2009-07-12T02:13:42Z [Term] id: HP:0010307 name: Stridor def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] xref: UMLS:C0038450 "Stridor" is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2009-07-12T02:16:48Z [Term] id: HP:0010308 name: Asternia def: "The congenital absence of the sternum." [HPO:curators] is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum created_by: peter creation_date: 2009-07-12T02:21:46Z [Term] id: HP:0010309 name: Bifid sternum def: "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum." [HPO:probinson] comment: Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form. subset: hposlim_core xref: SNOMEDCT:54008006 "Sternum bifidum" xref: UMLS:C0265696 "Bifid sternum" is_a: HP:0000766 ! Abnormality of the sternum created_by: peter creation_date: 2009-07-12T02:23:18Z [Term] id: HP:0010310 name: Chylothorax def: "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators] xref: MeSH:D002916 "Chylothorax" xref: UMLS:C1962974 "Chylothorax" is_a: HP:0002202 ! Pleural effusion created_by: peter creation_date: 2009-07-12T02:30:05Z [Term] id: HP:0010311 name: Aplasia/Hypoplasia of the breasts def: "Absence or underdevelopment of the breasts." [HPO:curators] is_a: HP:0000769 ! Abnormality of the breast created_by: peter creation_date: 2009-07-12T02:31:49Z [Term] id: HP:0010312 name: Asymmetry of the breasts def: "The presence of asymmetrical breasts." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:271691008 "Breasts asymmetrical" xref: UMLS:C0425779 "Breasts asymmetrical" is_a: HP:0000769 ! Abnormality of the breast property_value: HP:0040005 "The presence of `asymmetrical` (PATO:0000616) `breasts` (FMA:9601)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-07-12T02:32:46Z [Term] id: HP:0010313 name: Breast hypertrophy def: "The presence of hypertrophy of the breast." [HPO:probinson] subset: hposlim_core synonym: "Hypertrophy of the breasts" EXACT [] xref: SNOMEDCT:372281005 "Hypertrophy of breast" xref: UMLS:C0020565 "Hypertrophy of Breast" is_a: HP:0000769 ! Abnormality of the breast property_value: HP:0040005 "The presence of `hypertrophy` (MPATH:159) of the `breast` (FMA:9601)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-07-12T02:34:30Z [Term] id: HP:0010314 name: Premature thelarche def: "Premature development of the breasts." [HPO:probinson] xref: UMLS:C0425772 "Premature thelarche" is_a: HP:0000826 ! Precocious puberty created_by: peter creation_date: 2009-07-12T02:36:24Z [Term] id: HP:0010315 name: Aplasia/Hypoplasia of the diaphragm def: "Absence or underdevelopment of the diaphragm." [HPO:curators] is_a: HP:0000775 ! Abnormality of the diaphragm property_value: HP:0040005 "Absence or underdevelopment of the `diaphragm` (FMA:13295)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-07-12T02:41:58Z [Term] id: HP:0010316 name: Ebstein's anomaly of the tricuspid valve alt_id: HP:0006674 def: "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." [DDD:dbrown, HPO:probinson] comment: Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. synonym: "Ebstein's anomaly" EXACT [] synonym: "Ebstein's malformation" EXACT [] xref: EPCC:06.01.34 xref: ICD-10:Q22.5 is_a: HP:0001702 ! Abnormality of the tricuspid valve created_by: peter creation_date: 2009-07-14T11:12:07Z [Term] id: HP:0010317 name: Scapular aplasia def: "Absence of the scapulae." [HPO:probinson] subset: hposlim_core synonym: "Absent scapula" EXACT [] is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae created_by: peter creation_date: 2009-07-14T11:40:24Z [Term] id: HP:0010318 name: Aplasia/Hypoplasia of the abdominal wall musculature def: "Absence or underdevelopment of the abdominal musculature." [HPO:curators] is_a: HP:0010991 ! Abnormality of the abdominal musculature property_value: HP:0040005 "Absence or underdevelopment of the `abdominal musculature` (FMA:86917)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-07-14T11:51:46Z [Term] id: HP:0010319 name: Abnormality of the 2nd toe def: "An anomaly of the second toe." [HPO:probinson] is_a: HP:0001780 ! Abnormality of toe property_value: HP:0040005 "An anomaly of the `second toe`(FMA:25048)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010320 name: Abnormality of the 3rd toe def: "An anomaly of the third toe." [HPO:probinson] is_a: HP:0001780 ! Abnormality of toe property_value: HP:0040005 "An anomaly of the `third toe`(FMA:25051)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010321 name: Abnormality of the 4th toe def: "An anomaly of the fourth toe." [HPO:probinson] is_a: HP:0001780 ! Abnormality of toe property_value: HP:0040005 "An anomaly of the `fourth toe` (FMA:25052)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010322 name: Abnormality of the 5th toe def: "An anomaly of the little toe." [HPO:probinson] is_a: HP:0001780 ! Abnormality of toe property_value: HP:0040005 "An anomaly of the `little toe`(FMA:25053)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010323 name: Abnormality of the epiphyses of the 2nd toe is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010324 name: Abnormality of phalanx of the 2nd toe def: "An anomaly of a phalanx of second toe." [HPO:sdoelken] is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010319 ! Abnormality of the 2nd toe property_value: HP:0040005 "An anomaly of a `phalanx of second toe` (FMA:32899)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010325 name: Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010319 ! Abnormality of the 2nd toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010326 name: Deviation of the 2nd toe synonym: "Displacement of the 2nd toe" EXACT [] is_a: HP:0010319 ! Abnormality of the 2nd toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010327 name: Flexion contracture of the 2nd toe def: "One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 2nd toe" EXACT [] is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010328 name: Polydactyly affecting the 2nd toe is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010329 name: Abnormality of the epiphyses of the 3rd toe is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010330 name: Abnormality of the phalanges of the 3rd toe is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010331 name: Aplasia/Hypoplasia of the 3rd toe alt_id: HP:0008100 synonym: "Absent/hypoplastic third toe" EXACT [] is_a: HP:0010320 ! Abnormality of the 3rd toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010332 name: Deviation of the 3rd toe synonym: "Displacement of the 3rd toe" EXACT [] is_a: HP:0010320 ! Abnormality of the 3rd toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010333 name: Flexion contracture of 3rd toe def: "One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 3rd toe" EXACT [] is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010334 name: Polydactyly affecting the 3rd toe is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010335 name: Abnormality of the epiphyses of the 4th toe is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010336 name: Abnormality of the phalanges of the 4th toe is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010337 name: Aplasia/Hypoplasia of the 4th toe is_a: HP:0010321 ! Abnormality of the 4th toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010338 name: Deviation of the 4th toe synonym: "Displacement of the 4th toe" EXACT [] is_a: HP:0010321 ! Abnormality of the 4th toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010339 name: Flexion contracture of the 4th toe def: "One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 4th toe" EXACT [] is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010340 name: Polydactyly affecting the 4th toe is_a: HP:0010112 ! Mesoaxial foot polydactyly is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010341 name: Abnormality of the epiphyses of the 5th toe is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010342 name: Abnormality of the phalanges of the 5th toe is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010343 name: Aplasia/Hypoplasia of the 5th toe is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0010760 ! Absent toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010344 name: Deviation of the 5th toe synonym: "Displacement of the 5th toe" EXACT [] is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010345 name: Flexion contracture of the 5th toe def: "One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively." [HPO:probinson] synonym: "Joint contractures of the 5th toe" EXACT [] is_a: HP:0005830 ! Flexion contracture of toe is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010347 name: Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010348 name: Broad phalanges of the 2nd toe is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010349 name: Bullet-shaped 2nd toe phalanx def: "An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the 2nd toe" EXACT [] is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010350 name: Curved 2nd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the second toe." [HPO:probinson] synonym: "Curved phalanges of the 2nd toe" EXACT [] is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010351 name: Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010352 name: Patchy sclerosis of 2nd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 2nd toe" EXACT [] is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010353 name: Symphalangism affecting the phalanges of the 2nd toe def: "Fusion of the interphalangeal joints of the 2nd toe." [HPO:probinson] is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010354 name: Triangular shaped phalanges of the 2nd toe is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010355 name: Duplication of the phalanges of the 2nd toe def: "Partial or complete duplication of a phalanx of second toe." [HPO:sdoelken] synonym: "Partial/complete duplication of the phalanges of the 2nd toe" EXACT [] is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe property_value: HP:0040005 "Partial or complete duplication of a `phalanx of second toe` (FMA:32899)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010356 name: Abnormality of the distal phalanx of the 2nd toe is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010357 name: Abnormality of the middle phalanx of the 2nd toe is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010358 name: Abnormality of the proximal phalanx of the 2nd toe is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010324 ! Abnormality of phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010359 name: Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010360 name: Broad phalanges of the 3rd toe is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010361 name: Bullet-shaped 3rd toe phalanx def: "An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the 3rd toe" EXACT [] is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010362 name: Curved 3rd toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the third toe." [HPO:probinson] synonym: "Curved phalanges of the 3rd toe" EXACT [] is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010363 name: Osteolytic defects of the phalanges of the 3rd toe is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010364 name: Patchy sclerosis of 3rd toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 3rd toe" EXACT [] is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010365 name: Symphalangism affecting the phalanges of the 3rd toe is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010366 name: Triangular shaped phalanges of the 3rd toe is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010367 name: Duplication of phalanx of the 3rd toe def: "Partial or complete duplication of phalanx of third toe." [HPO:sdoelken] synonym: "Duplication of phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 3rd toe" EXACT [] is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: HP:0040005 "Partial or complete duplication of `phalanx of third toe` (FMA:32900)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010368 name: Abnormality of the distal phalanx of the 3rd toe is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010369 name: Abnormality of the middle phalanx of the 3rd toe is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010370 name: Abnormality of the proximal phalanx of the 3rd toe def: "An anomaly of the proximal phalanx of third toe." [HPO:probinson] is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010330 ! Abnormality of the phalanges of the 3rd toe property_value: HP:0040005 "An anomaly of the `proximal phalanx of third toe` (FMA:32619)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T11:51:17Z [Term] id: HP:0010371 name: Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010372 name: Broad phalanges of the 4th toe is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010373 name: Bullet-shaped 4th toe phalanx def: "An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the 4th toe" EXACT [] is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010374 name: Curved 4th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fourth toe." [HPO:probinson] synonym: "Curved phalanges of the 4th toe" EXACT [] is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010375 name: Osteolytic defects of the phalanges of the 4th toe is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010376 name: Patchy sclerosis of 4th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 4th toe" EXACT [] is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe is_a: HP:0100928 ! Sclerosis of 4th toe phalanx created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010377 name: Symphalangism affecting the phalanges of the 4th toe is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010378 name: Triangular shaped phalanges of the 4th toe is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010379 name: Duplication of phalanx of the 4th toe def: "Partial or complete duplication of phalanx of fourth toe." [HPO:probinson] synonym: "Duplication of phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 4th toe" EXACT [] is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe property_value: HP:0040005 "Partial or complete duplication of `phalanx of fourth toe` (FMA:32901)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010380 name: Abnormality of the distal phalanx of the 4th toe is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010381 name: Abnormality of the middle phalanx of the 4th toe is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010382 name: Abnormality of the proximal phalanx of the 4th toe is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010336 ! Abnormality of the phalanges of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:51:46Z [Term] id: HP:0010383 name: Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010384 name: Broad phalanges of the 5th toe is_a: HP:0010174 ! Broad phalanx of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010385 name: Bullet-shaped 5th toe phalanx def: "An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] synonym: "Bullet-shaped phalanges of the 5th toe" EXACT [] is_a: HP:0010175 ! Bullet-shaped toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010386 name: Curved 5th toe phalanx def: "A deviation from the normal straight form of one or more phalanges of the fifth toe." [HPO:probinson] synonym: "Curved phalanges of the 5th toe" EXACT [] is_a: HP:0010176 ! Curved toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010387 name: Osteolytic defects of the phalanges of the 5th toe is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010388 name: Patchy sclerosis of 5th toe phalanx def: "Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] synonym: "Patchy sclerosis of the phalanges of the 5th toe" EXACT [] is_a: HP:0010178 ! Patchy sclerosis of toe phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe is_a: HP:0100929 ! Sclerosis of 5th toe phalanx created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010389 name: Symphalangism affecting the phalanges of the 5th toe is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe is_a: HP:0100235 ! Synostosis involving bones of the toes created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010390 name: Triangular shaped phalanges of the 5th toe is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010391 name: Duplication of the phalanges of the 5th toe def: "Partial or complete duplication of one or more phalanx of little toe." [HPO:probinson] synonym: "Duplication of the phalanges of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the phalanges of the 5th toe" EXACT [] is_a: HP:0010181 ! Duplication of phalanx of toe is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe property_value: HP:0040005 "Partial or complete duplication of one or more `phalanx of little toe` (FMA:32902)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010392 name: Abnormality of the distal phalanx of the 5th toe is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010393 name: Abnormality of the middle phalanx of the 5th toe is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010394 name: Abnormality of the proximal phalanx of the 5th toe is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0010342 ! Abnormality of the phalanges of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:52:18Z [Term] id: HP:0010395 name: Aplasia/hypoplasia of the proximal phalanx of the 2nd toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe." [HPO:probinson] is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010396 name: Broad proximal phalanx of the 2nd toe is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010397 name: Bullet-shaped proximal phalanx of the 2nd toe def: "An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010398 name: Curved proximal phalanx of the 2nd toe def: "A deviation from the normal straight form of the proximal phalanx of the 2nd toe." [HPO:probinson] is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010399 name: Osteolytic defects of the proximal phalanx of the 2nd toe is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010400 name: Patchy sclerosis of the proximal phalanx of the 2nd toe is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe is_a: HP:0100931 ! Sclerosis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010401 name: Symphalangism affecting the proximal phalanx of the 2nd toe is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010402 name: Triangular shaped proximal phalanx of the 2nd toe is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010403 name: Duplication of the proximal phalanx of the 2nd toe def: "Partial or complete duplication of proximal phalanx of second toe." [HPO:sdoelken] synonym: "Duplication of the proximal phalanx of the second toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 2nd toe" EXACT [] is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010358 ! Abnormality of the proximal phalanx of the 2nd toe property_value: HP:0040005 "Partial or complete duplication of `proximal phalanx of second toe` (FMA:32618)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T11:58:15Z [Term] id: HP:0010404 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010405 name: Broad middle phalanx of the 2nd toe is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010406 name: Bullet-shaped middle phalanx of the 2nd toe def: "An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010407 name: Curved middle phalanx of the 2nd toe def: "A deviation from the normal straight form of the middle phalanx of the 2nd toe." [HPO:probinson] is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010408 name: Osteolytic defects of the middle phalanx of the 2nd toe is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010409 name: Patchy sclerosis of the middle phalanx of the 2nd toe is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe is_a: HP:0100935 ! Sclerosis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010410 name: Symphalangism affecting the middle phalanx of the 2nd toe is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010411 name: Triangular shaped middle phalanx of the 2nd toe is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010412 name: Duplication of the middle phalanx of the 2nd toe def: "Partial or complete duplication of middle phalanx of second toe." [HPO:sdoelken] synonym: "Partial/complete duplication of the middle phalanx of the 2nd toe" EXACT [] is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010357 ! Abnormality of the middle phalanx of the 2nd toe property_value: HP:0040005 "Partial or complete duplication of `middle phalanx of second toe` (FMA:32623)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T12:43:52Z [Term] id: HP:0010413 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010414 name: Broad distal phalanx of the 2nd toe is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010348 ! Broad phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010415 name: Bullet-shaped distal phalanx of the 2nd toe def: "An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010349 ! Bullet-shaped 2nd toe phalanx is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010416 name: Curved distal phalanx of the 2nd toe def: "A deviation from the normal straight form of the distal phalanx of the 2nd toe." [HPO:probinson] is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010350 ! Curved 2nd toe phalanx is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010417 name: Osteolytic defects of the distal phalanx of the 2nd toe is_a: HP:0010351 ! Osteolytic defects of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010418 name: Patchy sclerosis of the distal phalanx of the 2nd toe is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010352 ! Patchy sclerosis of 2nd toe phalanx is_a: HP:0100939 ! Sclerosis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010419 name: Symphalangism affecting the distal phalanx of the 2nd toe is_a: HP:0001859 ! Distal symphalangism (feet) is_a: HP:0010353 ! Symphalangism affecting the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010420 name: Triangular shaped distal phalanx of the 2nd toe is_a: HP:0010354 ! Triangular shaped phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010421 name: Duplication of the distal phalanx of the 2nd toe def: "Partial or complete duplication of the distal phalanx of second toe." [HPO:sdoelken] synonym: "Partial/complete duplication of the distal phalanx of the 2nd toe" EXACT [] is_a: HP:0010193 ! Duplication of distal phalanx of toe is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe property_value: HP:0040005 "Partial or complete duplication of the `distal phalanx of second toe` (FMA:32628)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T12:44:41Z [Term] id: HP:0010422 name: Complete duplication of the proximal phalanx of the 2nd toe def: "Complete duplication of proximal phalanx of second toe." [HPO:sdoelken] synonym: "Complete duplication of the proximal phalanx of the second toe" EXACT [] is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe property_value: HP:0040005 "Complete duplication of `proximal phalanx of second toe` (FMA:32618)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T12:56:56Z [Term] id: HP:0010423 name: Partial duplication of the proximal phalanx of the 2nd toe def: "Partial duplication of proximal phalanx of second toe." [HPO:probinson] synonym: "Partial duplication of the proximal phalanx of the second toe" EXACT [] is_a: HP:0010403 ! Duplication of the proximal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe property_value: HP:0040005 "Partial duplication of `proximal phalanx of second toe` (FMA:32618)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T12:56:56Z [Term] id: HP:0010424 name: Complete duplication of the distal phalanx of the 2nd toe def: "Complete duplication of the distal phalanx of second toe." [HPO:probinson] is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe property_value: HP:0040005 "Complete duplication of the `distal phalanx of second toe` (FMA:32628)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T12:57:27Z [Term] id: HP:0010425 name: Partial duplication of the distal phalanx of the 2nd toe def: "Partial duplication of the distal phalanx of second toe." [HPO:probinson] is_a: HP:0010421 ! Duplication of the distal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe property_value: HP:0040005 "Partial duplication of the `distal phalanx of second toe` (FMA:32628)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T12:57:27Z [Term] id: HP:0010426 name: Complete duplication of the middle phalanx of the 2nd toe def: "Complete duplication of middle phalanx of second toe." [HPO:sdoelken] is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe property_value: HP:0040005 "Complete duplication of `middle phalanx of second toe` (FMA:32623)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T12:58:18Z [Term] id: HP:0010427 name: Partial duplication of the middle phalanx of the 2nd toe def: "Partial duplication of middle phalanx of second toe." [HPO:sdoelken] is_a: HP:0010412 ! Duplication of the middle phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of phalanx of the 2nd toe property_value: HP:0040005 "Partial duplication of `middle phalanx of second toe` (FMA:32623)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T12:58:18Z [Term] id: HP:0010428 name: Partial duplication of phalanx of the 2nd toe def: "Partial duplication of a phalanx of second toe." [HPO:sdoelken] is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe property_value: HP:0040005 "Partial duplication of a `phalanx of second toe` (FMA:32899)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010429 name: Complete duplication of the phalanges of the 2nd toe def: "Complete duplication of a phalanx of second toe." [HPO:sdoelken] is_a: HP:0010355 ! Duplication of the phalanges of the 2nd toe property_value: HP:0040005 "Complete duplication of a `phalanx of second toe` (FMA:32899)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010430 name: Aplasia of the phalanges of the 2nd toe alt_id: HP:0100361 is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010431 name: Short phalanx of the 2nd toe alt_id: HP:0100365 def: "Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 2nd toe" EXACT [] synonym: "Short phalanx of the second toe" EXACT [] is_a: HP:0010325 ! Aplasia/Hypoplasia of the 2nd toe is_a: HP:0010347 ! Aplasia/Hypoplasia of the phalanges of the 2nd toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes property_value: HP:0040005 "Reduced length of one or more `phalanx of second toe` (FMA:32899) as a result of developmental hypoplasia." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010432 name: Absent distal phalanx of the 2nd toe def: "Absence of distal phalanx of the second toe as a result of developmental aplasia." [HPO:probinson] synonym: "Absent distal phalanx of the second toe" EXACT [] synonym: "Aplasia of the distal phalanx of the 2nd toe" EXACT [] is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes property_value: HP:0040005 "Absence of `distal phalanx of the second toe` (FMA:32628) as a result of developmental aplasia." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010433 name: Short distal phalanx of the 2nd toe def: "Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the 2nd toe" EXACT [] synonym: "Short distal phalanx of the second toe" EXACT [] is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe property_value: HP:0040005 "Reduced length of the `distal phalanx of the second toe` (FMA:32628) as a result of developmental hypoplasia." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010434 name: Aplasia of the middle phalanx of the 2nd toe is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010435 name: Short middle phalanx of the 2nd toe def: "Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia." [HPO:probinson] synonym: "Hypoplastic/small middle phalanx of the 2nd toe" EXACT [] synonym: "Short middle phalanx of the second toe" EXACT [] is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe property_value: HP:0040005 "Reduced length of the `middle phalanx of second toe` (FMA:32623) as a result of developmental hypoplasia." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010436 name: Aplasia of the proximal phalanx of the 2nd toe is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010430 ! Aplasia of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:29:25Z [Term] id: HP:0010437 name: Short proximal phalanx of the 2nd toe def: "Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia." [HPO:sdoelken] synonym: "Hypoplastic/small proximal phalanx of the 2nd toe" EXACT [] synonym: "Short proximal phalanx of the second toe" EXACT [] is_a: HP:0010395 ! Aplasia/hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010431 ! Short phalanx of the 2nd toe property_value: HP:0040005 "Reduced length of the `proximal phalanx of second toe` (FMA:32618) as a result of developmental hypoplasia." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2009-07-16T04:29:25Z [Term] id: HP:0010438 name: Abnormality of the ventricular septum alt_id: HP:0001628 def: "An abnormality of the interventricular septum." [HPO:probinson] synonym: "Ventricular septum abnormality" EXACT [] is_a: HP:0001671 ! Abnormality of the cardiac septa is_a: HP:0001713 ! Abnormality of cardiac ventricle property_value: HP:0040005 "An abnormality of the `interventricular septum` (FMA:7133)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-27T11:59:56Z [Term] id: HP:0010440 name: Ectopic accesory toe-like appendage def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes refered to as Disorganisation-like Syndrome (OMIM223200)." [HPO:curators] is_a: HP:0001829 ! Foot polydactyly created_by: doelkens creation_date: 2009-07-29T01:23:02Z [Term] id: HP:0010441 name: Ectopic accesory finger-like appendage def: "In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes refered to as Disorganisation-like Syndrome (OMIM223200)." [HPO:curators] is_a: HP:0001161 ! Hand polydactyly created_by: doelkens creation_date: 2009-07-29T01:34:47Z [Term] id: HP:0010442 name: Polydactyly alt_id: HP:0006034 alt_id: HP:0006046 alt_id: HP:0006123 alt_id: HP:0009605 def: "A congenital anomaly characterized by the presence of supernumerary fingers or toes." [HPO:probinson] xref: MeSH:D017689 "Polydactyly" xref: UMLS:C2117329 "polydactyly" is_a: HP:0011297 ! Abnormality of digit created_by: doelkens creation_date: 2009-07-29T01:39:27Z [Term] id: HP:0010443 name: Bifid femur def: "A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." [HPO:probinson] subset: hposlim_core is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "A bifid or bifurcated appearance of the `femur` (FMA:9611) as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-07-29T04:29:30Z [Term] id: HP:0010444 name: Pulmonary insufficiency def: "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators] synonym: "Pulmonary incompetence" EXACT [] synonym: "Puolmonary valve insufficiency" EXACT [] xref: UMLS:C0034088 "Pulmonary incompetence" is_a: HP:0001641 ! Abnormality of the pulmonary valve created_by: peter creation_date: 2009-09-14T09:54:12Z [Term] id: HP:0010445 name: Primum atrial septal defect def: "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum." [DDD:dbrown, HPO:probinson] synonym: "ATRIAL SEPTAL DEFECT, PRIMUM TYPE" EXACT [HPO:skoehler] synonym: "Ostium primum atrial septal defect" EXACT [] synonym: "Primum atrioventricular canal defect" EXACT [] synonym: "Septum primum defect" EXACT [] xref: UMLS:C0741296 "Ostium primum atrial septal defect" is_a: HP:0001631 ! Defect in the atrial septum is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2009-09-14T09:59:38Z [Term] id: HP:0010446 name: Tricuspid stenosis def: "A narrowing of the orifice of the tricuspid valve of the heart." [HPO:curators] xref: EPCC:06.01.92 xref: ICD-10:Q22.4 xref: UMLS:C0040963 "Tricuspid stenosis" is_a: HP:0001702 ! Abnormality of the tricuspid valve created_by: peter creation_date: 2009-09-14T10:10:10Z [Term] id: HP:0010447 name: Anal fistula def: "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [HPO:probinson] subset: hposlim_core synonym: "Fistula in ano" EXACT [] xref: MEDRA:10002156 "Anal fistula" xref: UMLS:C0205929 "Anal Fistula" is_a: HP:0004378 ! Abnormality of the anus is_a: HP:0100819 ! Intestinal fistula created_by: peter creation_date: 2009-09-14T10:16:39Z [Term] id: HP:0010448 name: Colonic atresia def: "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon." [HPO:probinson] synonym: "Atresia of the large intestine" EXACT [] synonym: "Large intestinal atresia" EXACT [] xref: UMLS:C0266190 "Colonic atresia" is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0011100 ! Intestinal atresia property_value: HP:0040005 "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or `atresia` (PATO:0001819) of the tubular structure of the `colon` (FMA:14543)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-14T10:23:09Z [Term] id: HP:0010450 name: Esophageal stenosis def: "An abnormal narrowing of the lumen of the esophagus." [HPO:probinson] xref: MeSH:D004940 "Esophageal Stenosis" xref: UMLS:C0014866 "Esophageal Stenosis" is_a: HP:0002031 ! Abnormality of the esophagus created_by: peter creation_date: 2009-09-14T10:42:33Z [Term] id: HP:0010451 name: Aplasia/Hypoplasia of the spleen def: "Absence or underdevelopment of the spleen." [HPO:curators] is_a: HP:0001743 ! Abnormality of the spleen property_value: HP:0040005 "Absence or underdevelopment of the `spleen` (FMA:7196)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-09-14T10:48:29Z [Term] id: HP:0010452 name: Ectopia of the spleen def: "An abnormal (non-anatomic) location of the spleen." [HPO:curators] synonym: "Ectopic spleen" EXACT [] xref: UMLS:C0266632 "Ectopic spleen" is_a: HP:0001743 ! Abnormality of the spleen property_value: HP:0040005 "An abnormal (non-anatomic) location of the `spleen` (FMA:7196)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-09-14T10:51:09Z [Term] id: HP:0010453 name: Pelvic asymmetry def: "Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric pelvis" EXACT [] is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: peter creation_date: 2009-09-14T11:01:50Z [Term] id: HP:0010454 name: Acetabular spurs def: "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [HPO:probinson] subset: hposlim_core is_a: HP:0003170 ! Abnormality of the acetabulum created_by: peter creation_date: 2009-09-14T11:15:40Z [Term] id: HP:0010455 name: Steep acetabular roof def: "An exageration of the normal arched form of the acetabular roof such that it takes on a steep appearance." [HPO:probinson] is_a: HP:0003170 ! Abnormality of the acetabulum created_by: peter creation_date: 2009-09-14T11:18:20Z [Term] id: HP:0010456 name: Abnormality of the greater sacrosciatic notch def: "An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: peter creation_date: 2009-09-15T08:14:32Z [Term] id: HP:0010457 name: Widening of the sacrosciatic notch def: "Abnormally increased width of the greater sacrosciatic notch." [HPO:curators] is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch created_by: peter creation_date: 2009-09-15T08:16:32Z [Term] id: HP:0010458 name: Female pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized." [HPO:curators] xref: UMLS:C0238394 "Female Pseudohermaphroditism" is_a: HP:0000055 ! Abnormality of female external genitalia created_by: peter creation_date: 2009-09-15T08:21:32Z [Term] id: HP:0010459 name: True hermaphroditism alt_id: HP:0003242 def: "The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism." [HPO:curators] synonym: "Testicular and ovarian tissue present" EXACT [] is_a: HP:0000062 ! Ambiguous genitalia is_a: HP:0000811 ! Abnormal external genitalia created_by: peter creation_date: 2009-09-15T08:28:15Z [Term] id: HP:0010460 name: Abnormality of the female genitalia def: "Abnormality of the female genital system." [HPO:probinson] comment: Abnormality of the female internal or external genitalia. is_a: HP:0012243 ! Abnormal genital system morphology property_value: HP:0040005 "Abnormality of the `female genital system` (FMA:45663)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T08:32:09Z [Term] id: HP:0010461 name: Abnormality of the male genitalia def: "Abnormality of the male genital system." [HPO:probinson] is_a: HP:0012243 ! Abnormal genital system morphology property_value: HP:0040005 "Abnormality of the `male genital system` (FMA:45664)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T08:33:20Z [Term] id: HP:0010462 name: Aplasia/Hypoplasia of the ovary def: "Aplasia or developmental hypoplasia of the ovary." [HPO:probinson] is_a: HP:0000137 ! Abnormality of the ovary property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T08:38:35Z [Term] id: HP:0010463 name: Aplasia of the ovary def: "Aplasia, that is failure to develop, of the ovary." [HPO:probinson] synonym: "Absent ovary" EXACT [] synonym: "Aplasia of the ovaries" RELATED [] is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary property_value: HP:0040005 "`Aplasia` (MPATH:58), that is failure to develop, of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T08:40:06Z [Term] id: HP:0010464 name: Streak ovary def: "A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells." [HPO:probinson] xref: UMLS:C0266371 "Streak ovary" is_a: HP:0008724 ! Hypoplasia of the ovary created_by: peter creation_date: 2009-09-15T08:42:35Z [Term] id: HP:0010465 name: Precocious puberty in females def: "The onset of puberty before the age of 8 years in girls." [HPO:probinson] is_a: HP:0000826 ! Precocious puberty created_by: peter creation_date: 2009-09-15T08:48:42Z [Term] id: HP:0010468 name: Aplasia/Hypoplasia of the testes def: "Absence or underdevelopment of the testes." [HPO:curators] is_a: HP:0000035 ! Abnormality of the testis created_by: peter creation_date: 2009-09-15T09:28:46Z [Term] id: HP:0010469 name: Aplasia of the testes def: "Absence of the testes." [HPO:curators] is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes created_by: peter creation_date: 2009-09-15T09:29:16Z [Term] id: HP:0010470 name: Supernumerary testes def: "The presence of more than two testes." [HPO:probinson] synonym: "Polyorchidism" EXACT [] xref: UMLS:C0266430 "Polyorchidism" is_a: HP:0000035 ! Abnormality of the testis created_by: peter creation_date: 2009-09-15T09:34:18Z [Term] id: HP:0010471 name: Oligosacchariduria def: "Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." [HPO:probinson] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "Increased urinary excretion of `oligosaccharides` (CHEBI:50699) (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T09:48:34Z [Term] id: HP:0010472 name: Abnormality of the heme biosynthetic pathway def: "An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes." [HPO:curators] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2009-09-15T09:53:11Z [Term] id: HP:0010473 name: Porphyrinuria def: "Abnormally increased excretion of porphyrins in the urine." [HPO:probinson] comment: Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme. xref: UMLS:C0151861 "Porphyrinuria" is_a: HP:0010472 ! Abnormality of the heme biosynthetic pathway property_value: HP:0040005 "Abnormally increased excretion of `porphyrins` (CHEBI:26214) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T09:57:34Z [Term] id: HP:0010474 name: Bladder stones def: "Buildups of minerals that form in the urinary bladder." [HPO:probinson] xref: MeSH:D001744 "Urinary Bladder Calculi" xref: UMLS:C0005683 "Bladder Stones" is_a: HP:0000014 ! Abnormality of the bladder created_by: peter creation_date: 2009-09-15T10:03:20Z [Term] id: HP:0010475 name: Cloacal exstrophy def: "Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus." [HPO:probinson] xref: UMLS:C0345217 "Cloacal exstrophy" is_a: HP:0012620 ! Cloacal abnormality is_a: HP:0100548 ! Exstrophy created_by: peter creation_date: 2009-09-15T10:08:32Z [Term] id: HP:0010476 name: Aplasia/Hypoplasia of the bladder def: "Absence or underdevelopment of the urinary bladder." [HPO:probinson] is_a: HP:0000014 ! Abnormality of the bladder property_value: HP:0040005 "Absence or underdevelopment of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T10:09:48Z [Term] id: HP:0010477 name: Aplasia of the bladder def: "Aplasia (absence) of the urinary bladder." [HPO:probinson] is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder property_value: HP:0040005 "Aplasia (absence) of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T10:10:19Z [Term] id: HP:0010478 name: Abnormality of the urachus def: "Abnormality of the urachus." [HPO:probinson] comment: The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord. is_a: HP:0000014 ! Abnormality of the bladder property_value: HP:0040005 "Abnormality of the `urachus` (FMA:70343)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T10:13:04Z [Term] id: HP:0010479 name: Patent urachus def: "Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus." [HPO:probinson] synonym: "Persistent urachus" EXACT [] xref: SNOMEDCT:398316009 "Patent urachus" xref: UMLS:C0266357 "Patent urachus" is_a: HP:0010478 ! Abnormality of the urachus created_by: peter creation_date: 2009-09-15T10:15:17Z [Term] id: HP:0010480 name: Urethral fistula def: "The presence of an abnormal connection between the urethra and another organ or the skin." [HPO:curators] xref: UMLS:C0041970 "Urethral fistula" is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0100589 ! Urogenital fistula created_by: peter creation_date: 2009-09-15T10:37:37Z [Term] id: HP:0010481 name: Urethral valve def: "The presence of an abnormal membrane obstructing the urethra." [HPO:probinson] xref: UMLS:C0266345 "Urethral valves" is_a: HP:0000796 ! Urethral obstruction property_value: HP:0040005 "The presence of an abnormal membrane obstructing the `urethra` (FMA:19667)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-15T10:38:46Z [Term] id: HP:0010482 name: Acromelia of the upper limbs def: "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments." [HPO:curators] is_a: HP:0010884 ! Acromelia created_by: peter creation_date: 2009-09-16T08:56:43Z [Term] id: HP:0010483 name: Amniotic constriction rings of arms def: "Amniotic constriction rings affecting the arms." [HPO:curators] is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009775 ! Amniotic constriction ring created_by: peter creation_date: 2009-09-16T09:15:05Z [Term] id: HP:0010484 name: Hypertrophy of the upper limb def: "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [HPO:curators] is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2009-09-16T09:23:57Z [Term] id: HP:0010485 name: Hyperextensibility at elbow def: "The ability of the elbow joint to move beyond its normal range of motion." [HPO:curators] is_a: HP:0001382 ! Joint hypermobility created_by: peter creation_date: 2009-09-16T10:05:52Z [Term] id: HP:0010486 name: Abnormality of the hypothenar eminence def: "An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)." [HPO:probinson] is_a: HP:0001421 ! Abnormality of the musculature of the hand property_value: HP:0040005 "An abnormality of the `hypothenar eminence`(FMA:61523), i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-16T10:38:43Z [Term] id: HP:0010487 name: Small hypothenar eminence alt_id: HP:0005721 def: "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Hypoplasia of the hypothenar eminence" EXACT [] synonym: "Hypothenar hypoplasia" EXACT [] is_a: HP:0010486 ! Abnormality of the hypothenar eminence property_value: HP:0040005 "Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the `hypothenar eminence`(FMA:61523)." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} created_by: peter creation_date: 2009-09-16T10:40:18Z [Term] id: HP:0010488 name: Aplasia/Hypoplasia of the palmar creases def: "Absence or underdevelopment of the palmar creases." [HPO:curators] is_a: HP:0010490 ! Abnormality of the palmar creases created_by: peter creation_date: 2009-09-16T10:53:24Z [Term] id: HP:0010489 name: Absent palmar crease def: "The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease)." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Absence of the palmar creases" EXACT [] synonym: "Aplasia of the palmar creases" EXACT [] is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases created_by: peter creation_date: 2009-09-16T10:54:09Z [Term] id: HP:0010490 name: Abnormality of the palmar creases def: "An abnormality of the creases of the skin of palm of hand." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:205557000 "Abnormal palmar creases" xref: UMLS:C0221199 "Abnormal palmar creases" is_a: HP:0001018 ! Abnormal palmar dermatoglyphics property_value: HP:0040005 "An abnormality of the creases of the `skin of palm of hand` (FMA:38301)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-16T10:54:52Z [Term] id: HP:0010491 name: Digital constriction ring def: "A narrow segment of significantly reduced circumference of a digit." [pmid:19125433] comment: The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit. subset: hposlim_core synonym: "Amniotic constriction rings of digits" EXACT [] is_a: HP:0009775 ! Amniotic constriction ring created_by: peter creation_date: 2009-09-16T11:08:16Z [Term] id: HP:0010492 name: Osseous finger syndactyly def: "Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as \"Symphalangism\"." [HPO:sdoelken] subset: hposlim_core synonym: "Osseous syndactyly of the fingers" EXACT [] is_a: HP:0006101 ! Finger syndactyly created_by: peter creation_date: 2009-09-16T11:20:38Z [Term] id: HP:0010493 name: Long metacarpals def: "An abnormally increased length of the metacarpal bones." [HPO:probinson] subset: hposlim_core synonym: "Increased length of metacarpals" EXACT [] is_a: HP:0005916 ! Abnormal metacarpal morphology created_by: peter creation_date: 2009-09-17T10:25:37Z [Term] id: HP:0010494 name: Acromelia of the lower limbs def: "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments." [HPO:probinson] is_a: HP:0006493 ! Aplasia/hypoplasia involving bones of the lower limbs is_a: HP:0010884 ! Acromelia created_by: peter creation_date: 2009-09-17T11:04:51Z [Term] id: HP:0010495 name: Amniotic constriction rings of legs def: "Amniotic constriction rings affecting the legs." [HPO:probinson] xref: SNOMEDCT:205382001 "Constriction ring syndrome of lower limb" xref: SNOMEDCT:205383006 "Constriction ring of lower limb" xref: UMLS:C0431939 "Constriction ring syndrome of lower limb" is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009775 ! Amniotic constriction ring created_by: peter creation_date: 2009-09-17T11:07:10Z [Term] id: HP:0010496 name: Hypertrophy of the lower limb def: "Abnormal increase in size of the lower limbs (due to an increase of the size of cells)." [HPO:curators] is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2009-09-17T11:08:38Z [Term] id: HP:0010497 name: Sirenomelia def: "A developmental defect in which the legs are fused together." [HPO:probinson] subset: hposlim_core synonym: "Sympodia" RELATED [] xref: MEDRA:10049216 "Sympodia" xref: SNOMEDCT:91089008 "Sirenomelia sequence" xref: UMLS:C0037205 "Sirenomelia" is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2009-09-17T11:11:10Z [Term] id: HP:0010498 name: Bipartite patella def: "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood." [HPO:probinson] subset: hposlim_core xref: UMLS:C1533285 "bipartite patella" is_a: HP:0003045 ! Abnormality of the patella created_by: peter creation_date: 2009-09-17T11:39:39Z [Term] id: HP:0010499 name: Patellar subluxation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella." [HPO:curators] synonym: "Subluxation of patella" EXACT [] xref: UMLS:C1839733 "Patellar subluxation" is_a: HP:0003045 ! Abnormality of the patella created_by: peter creation_date: 2009-09-17T11:46:41Z [Term] id: HP:0010500 name: Hyperextensibility of the knee def: "The ability of the knee joint to move beyond its normal range of motion." [HPO:curators] is_a: HP:0002815 ! Abnormality of the knees created_by: peter creation_date: 2009-09-19T09:44:04Z [Term] id: HP:0010501 name: Limitation of knee mobility alt_id: HP:0005030 alt_id: HP:0005192 def: "An abnormal limitation of knee joint mobility." [HPO:curators] synonym: "Limited knee movement" EXACT [] is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0002815 ! Abnormality of the knees created_by: peter creation_date: 2009-09-19T09:44:33Z [Term] id: HP:0010502 name: Fibular bowing def: "A bending or abnormal curvature of the fibula." [HPO:probinson] comment: A developmental defect with posteromedial fibular angulation. is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "A bending or abnormal curvature of the `fibula` (FMA:24479)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-19T09:45:18Z [Term] id: HP:0010503 name: Fibular duplication def: "Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition." [HPO:probinson] subset: hposlim_core is_a: HP:0002991 ! Abnormality of the fibula created_by: peter creation_date: 2009-09-19T09:45:58Z [Term] id: HP:0010504 name: Increased length of the tibia def: "An abnormal increase in the length of the tibia." [HPO:curators] is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs created_by: peter creation_date: 2009-09-19T09:46:37Z [Term] id: HP:0010505 name: Limitation of movement at ankles def: "An abnormal limitation of the mobility of the ankle joint." [HPO:curators] is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0003028 ! Abnormality of the ankles created_by: peter creation_date: 2009-09-19T09:47:11Z [Term] id: HP:0010506 name: Abnormal plantar dermatoglyphics def: "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot." [HPO:probinson] synonym: "Abnormal dermatoglyphics on feet" EXACT [] is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: HP:0040005 "An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the `skin of sole of foot` (FMA:37849)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-19T09:47:44Z [Term] id: HP:0010507 name: Foot asymmetry def: "A difference in size or shape between the left and right foot." [HPO:curators] is_a: HP:0001760 ! Abnormality of the foot created_by: peter creation_date: 2009-09-19T09:49:04Z [Term] id: HP:0010508 name: Metatarsus valgus def: "A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight." [HPO:curators] xref: UMLS:C0262554 "METATARSUS VALGUS" is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: peter creation_date: 2009-09-19T09:59:48Z [Term] id: HP:0010509 name: Aplasia of the tarsal bones def: "Absence of the tarsal bones." [HPO:curators] synonym: "Absent tarsals" EXACT [] is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones created_by: peter creation_date: 2009-09-19T10:05:13Z [Term] id: HP:0010510 name: Hypermobility of toe joints def: "An ability of the toe joints to move beyond their normal range of motion." [HPO:curators] is_a: HP:0001780 ! Abnormality of toe created_by: peter creation_date: 2009-09-19T10:15:12Z [Term] id: HP:0010511 name: Long toe def: "Digits that appear disproportionately long compared to the foot." [HPO:probinson, pmid:19125433] comment: This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified. subset: hposlim_core synonym: "Increased length of toes" EXACT [] synonym: "Long toes" EXACT [] is_a: HP:0001780 ! Abnormality of toe created_by: peter creation_date: 2009-09-19T10:40:43Z [Term] id: HP:0010512 name: Adrenal calcification def: "Calcification within the adrenal glands." [HPO:probinson] comment: This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts. xref: UMLS:C0271750 "Adrenal calcification" is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011732 ! Abnormality of adrenal morphology property_value: HP:0040005 "Calcification within the `adrenal glands` (FMA:9604)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-19T03:34:26Z [Term] id: HP:0010513 name: Pituitary calcification def: "Deposition of calcium salts in the pituitary gland." [HPO:probinson] is_a: HP:0002514 ! Cerebral calcification is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: peter creation_date: 2009-09-19T04:09:21Z [Term] id: HP:0010514 name: Hyperpituitarism def: "Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma." [HPO:probinson] xref: MeSH:D006964 "Hyperpituitarism" xref: UMLS:C0020506 "Hyperpituitarism" is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: peter creation_date: 2009-09-19T04:14:54Z [Term] id: HP:0010515 name: Aplasia/Hypoplasia of the thymus def: "Absence or underdevelopment of the thymus." [HPO:probinson] synonym: "THYMIC HYPOPLASIA OR APLASIA" RELATED [HPO:skoehler] is_a: HP:0000777 ! Abnormality of the thymus property_value: HP:0040005 "Absence or underdevelopment of the `thymus` (FMA:9607)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-19T04:21:24Z [Term] id: HP:0010516 name: Thymus hyperplasia def: "Enlargement of the thymus." [HPO:curators] xref: MeSH:D013952 "Thymus Hyperplasia" xref: UMLS:C0040115 "Thymus Hyperplasia" is_a: HP:0000777 ! Abnormality of the thymus property_value: HP:0040005 "Enlargement of the `thymus` (FMA:9607)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-09-19T04:23:10Z [Term] id: HP:0010517 name: Ectopic thymus tissue def: "The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [HPO:curators] xref: UMLS:C0266638 "Ectopic thymic tissue" is_a: HP:0000777 ! Abnormality of the thymus property_value: HP:0040005 "The presence of ectopic `thymus` (FMA:9607) tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-09-19T04:30:35Z [Term] id: HP:0010518 name: Thyroglossal cyst def: "An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct." [HPO:probinson] comment: A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst. subset: hposlim_core synonym: "Thyroglossal duct cyst" EXACT [] xref: MeSH:D013955 "Thyroglossal Cyst" xref: UMLS:C0040124 "Thyroglossal Cyst" xref: v:39462005 "Thyroglossal duct cyst" is_a: HP:0011772 ! Abnormality of thyroid morphology property_value: HP:0040005 "An `abnormality of the thyroid gland` (HP:0000820) owing to the presence of a fibrous `cyst` (MPATH:62) resulting from the persistence of the `thyroglossal duct` (FMA:77274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-19T04:38:04Z [Term] id: HP:0010519 name: Increased fetal movement def: "An abnormal increase in quantity or strength of fetal movements." [HPO:curators] synonym: "Fetal hyperkinesia" EXACT [] is_a: HP:0001557 ! Prenatal movement abnormality created_by: peter creation_date: 2009-09-20T10:44:15Z [Term] id: HP:0010521 name: Gait apraxia def: "Gait apraxia affecting the ability to make walking movements with the legs." [HPO:curators] xref: MeSH:D020235 "Gait Apraxia" xref: UMLS:C1510417 "Gait Apraxia" is_a: HP:0001288 ! Gait disturbance is_a: HP:0002186 ! Apraxia created_by: peter creation_date: 2009-09-20T11:01:35Z [Term] id: HP:0010522 name: Dyslexia alt_id: HP:0006871 def: "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:probinson] synonym: "Reading disability" EXACT [] xref: MeSH:D004410 "Dyslexia" xref: UMLS:C0476254 "Dyslexia" xref: UMLS:C0871215 "Reading Disabilities" is_a: HP:0001328 ! Specific learning disability created_by: peter creation_date: 2009-09-20T11:19:24Z [Term] id: HP:0010523 name: Alexia def: "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [HPO:probinson] comment: Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed. synonym: "Text blindness" EXACT [] synonym: "Word blindness" EXACT [] xref: UMLS:C0002018 "Alexia" is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T11:27:07Z [Term] id: HP:0010524 name: Agnosia def: "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:probinson] xref: MeSH:D000377 "Agnosia" xref: UMLS:C0001816 "Agnosia" is_a: HP:0011446 ! Abnormality of higher mental function created_by: peter creation_date: 2009-09-20T11:33:03Z [Term] id: HP:0010525 name: Finger agnosia def: "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators] xref: UMLS:C0234509 "Finger Agnosia" is_a: HP:0010524 ! Agnosia created_by: peter creation_date: 2009-09-20T11:37:33Z [Term] id: HP:0010526 name: Dysgraphia def: "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] xref: UMLS:C0234144 "Dysgraphia" is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T11:40:43Z [Term] id: HP:0010527 name: Astereognosia def: "Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on based on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit." [HPO:probinson] synonym: "Astereognosis" EXACT [] synonym: "Somatosensory agnosia" EXACT [] xref: UMLS:C0234505 "Astereognosia" is_a: HP:0010524 ! Agnosia is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2009-09-20T11:41:58Z [Term] id: HP:0010528 name: Prosopagnosia def: "Inability to recognize faces of familair persons." [HPO:probinson] synonym: "Face blindness" EXACT [] synonym: "Facial agnosia" EXACT [] xref: MeSH:D020238 "Prosopagnosia" xref: UMLS:C0234512 "Prosopagnosia" is_a: HP:0010524 ! Agnosia created_by: peter creation_date: 2009-09-20T11:45:49Z [Term] id: HP:0010529 name: Echolalia def: "The tendency to repeat vocalizations made by another person." [HPO:curators] xref: MeSH:D004454 "Echolalia" xref: UMLS:C0013528 "Echolalia" is_a: HP:0000708 ! Behavioral abnormality is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T08:17:27Z [Term] id: HP:0010530 name: Palatal myoclonus def: "Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate." [HPO:probinson] xref: UMLS:C0030214 "Myoclonus, Palatal" is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2009-09-20T08:50:17Z [Term] id: HP:0010531 name: Spinal myoclonus def: "Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia." [HPO:curators] is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2009-09-20T08:53:39Z [Term] id: HP:0010532 name: Paroxysmal vertigo def: "Paroxysmal episodes of vertigo." [HPO:curators] xref: UMLS:C0522357 "Vertigo, Paroxysmal" is_a: HP:0002321 ! Vertigo created_by: peter creation_date: 2009-09-20T09:12:15Z [Term] id: HP:0010533 name: Spasmus nutans def: "The combination of pendular nystagmus, head nodding, and torticollis." [HPO:probinson, pmid:7499100] xref: UMLS:C1527306 "spasmus nutans" is_a: HP:0012043 ! Pendular nystagmus created_by: peter creation_date: 2009-09-20T09:19:57Z [Term] id: HP:0010534 name: Transient global amnesia def: "A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information." [HPO:curators] xref: UMLS:C0338591 "Amnesia, Transient Global" is_a: HP:0002354 ! Memory impairment created_by: peter creation_date: 2009-09-20T09:33:50Z [Term] id: HP:0010535 name: Sleep apnea def: "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators] synonym: "Sleep apnoea" EXACT [] xref: MeSH:D012891 "Sleep Apnea Syndromes" xref: UMLS:C0037315 "Apnea, Sleep" is_a: HP:0002104 ! Apnea is_a: HP:0002360 ! Sleep disturbance created_by: peter creation_date: 2009-09-21T08:53:35Z [Term] id: HP:0010536 name: Central sleep apnea def: "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles." [HPO:probinson] synonym: "Central sleep apnoea" EXACT [] xref: MeSH:D020182 "Sleep Apnea, Central" xref: UMLS:C0520680 "Central sleep apnoea" is_a: HP:0010535 ! Sleep apnea created_by: peter creation_date: 2009-09-21T08:57:02Z [Term] id: HP:0010537 name: Wide cranial sutures def: "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)." [HPO:probinson] subset: hposlim_core synonym: "Open cranial sutures" EXACT [] synonym: "Persistent wide fontanel" EXACT [] synonym: "Widened cranial sutures" EXACT [] xref: UMLS:C0410935 "Wide cranial sutures" is_a: HP:0011329 ! Abnormality of cranial sutures created_by: peter creation_date: 2009-09-21T09:50:28Z [Term] id: HP:0010538 name: Small sella turcica def: "An abnormally small sella turcica." [HPO:curators] subset: hposlim_core is_a: HP:0002679 ! Abnormality of the sella turcica created_by: peter creation_date: 2009-09-21T10:19:05Z [Term] id: HP:0010539 name: Thin calvarium def: "The presence of an abnormally thin calvarium." [HPO:probinson] subset: hposlim_core xref: UMLS:C1856231 "Thin calvarium" is_a: HP:0002683 ! Abnormality of the calvaria created_by: peter creation_date: 2009-09-21T10:21:29Z [Term] id: HP:0010540 name: Advanced pneumatization of cranial sinuses def: "A degree of pneumatization that is increased compared to age-related norms." [HPO:probinson] is_a: HP:0000245 ! Abnormality of the sinuses created_by: peter creation_date: 2009-09-23T10:04:21Z [Term] id: HP:0010541 name: Cutis gyrata of scalp def: "The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." [HPO:probinson] synonym: "Cutis verticis gyrata" EXACT [] xref: UMLS:C0263417 "Cutis verticis gyrata" is_a: HP:0001965 ! Abnormality of the scalp is_a: HP:0011356 ! Regional abnormality of skin property_value: HP:0040005 "The presence of convoluted folds and furrows formed from thickened skin of the `scalp` (FMA:46494), resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-09-23T10:15:33Z [Term] id: HP:0010542 name: Vestibular nystagmus def: "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components." [HPO:curators] xref: UMLS:C0155379 "Vestibular nystagmus" is_a: HP:0000639 ! Nystagmus is_a: HP:0009591 ! Abnormality of the vestibulocochlear nerve created_by: peter creation_date: 2009-09-23T10:38:28Z [Term] id: HP:0010543 name: Opsoclonus def: "Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude." [HPO:probinson] xref: UMLS:C0242567 "Opsoclonus" is_a: HP:0012547 ! Abnormal involuntary eye movements created_by: peter creation_date: 2009-09-23T10:40:51Z [Term] id: HP:0010544 name: Vertical nystagmus def: "Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus." [HPO:probinson] subset: hposlim_core xref: UMLS:C0271386 "Vertical Nystagmus" is_a: HP:0000639 ! Nystagmus created_by: peter creation_date: 2009-09-23T10:45:18Z [Term] id: HP:0010545 name: Downbeat nystagmus def: "Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone." [HPO:probinson, pmid:21505601] xref: UMLS:C0585544 "Downbeat nystagmus" is_a: HP:0010544 ! Vertical nystagmus created_by: peter creation_date: 2009-09-23T10:47:44Z [Term] id: HP:0010546 name: Muscle fibrillation def: "Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG." [HPO:probinson] xref: UMLS:C0231531 "Muscle fibrillation" is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2009-09-29T08:23:48Z [Term] id: HP:0010547 name: Muscle flaccidity def: "A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation." [HPO:curators] xref: UMLS:C0026825 "Muscle Flaccidity" is_a: HP:0001324 ! Muscle weakness created_by: peter creation_date: 2009-09-29T09:21:45Z [Term] id: HP:0010548 name: Percussion myotonia alt_id: HP:0004304 def: "A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object)." [HPO:curators] synonym: "Transient swelling of muscle induced by percussion" EXACT [] xref: UMLS:C0751359 "Percussion Myotonia" is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2009-10-01T08:15:50Z [Term] id: HP:0010549 name: Weakness due to upper motor neuron dysfunction def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons." [HPO:probinson] synonym: "Paralysis due to lesions of the principle motor tracts" EXACT [] is_a: HP:0002493 ! Upper motor neuron dysfunction created_by: peter creation_date: 2009-10-01T08:30:25Z [Term] id: HP:0010550 name: Paraplegia def: "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:probinson] xref: MeSH:D010264 "Paraplegia" xref: UMLS:C0030486 "Paraplegia" is_a: HP:0010551 ! Paraplegia/paraparesis created_by: peter creation_date: 2009-10-01T08:32:57Z [Term] id: HP:0010551 name: Paraplegia/paraparesis def: "Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength." [HPO:curators] is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction created_by: peter creation_date: 2009-10-01T08:36:05Z [Term] id: HP:0010553 name: Oculogyric crisis def: "An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications." [HPO:curators] xref: UMLS:C0085637 "Oculogyric crisis" is_a: HP:0001332 ! Dystonia created_by: peter creation_date: 2009-10-01T08:56:39Z [Term] id: HP:0010554 name: Cutaneous finger syndactyly alt_id: HP:0001214 alt_id: HP:0005637 alt_id: HP:0006054 alt_id: HP:0006220 def: "A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers." [pmid:19125433] comment: We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly. subset: hposlim_core synonym: "Cutaneous syndactyly (hands)" EXACT [] synonym: "Cutaneous syndactyly of fingers" EXACT [] xref: UMLS:C1846072 "Partial cutaneous syndactyly" is_a: HP:0006101 ! Finger syndactyly is_a: HP:0012725 ! Cutaneous syndactyly created_by: sandra1 creation_date: 2009-10-07T10:59:57Z [Term] id: HP:0010557 name: Overlapping fingers def: "A finger resting on the dorsal surface of an adjacent digit when the hand is at rest." [HPO:probinson, pmid:19125433] comment: Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly. subset: hposlim_core xref: UMLS:C1446712 "Overlapping fingers" is_a: HP:0004097 ! Deviation of finger is_a: HP:0005922 ! Abnormal hand morphology created_by: sandra1 creation_date: 2009-10-13T09:21:52Z [Term] id: HP:0010558 name: Abnormality of the clivus def: "An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum." [HPO:curators] is_a: HP:0000932 ! Abnormality of the posterior cranial fossa created_by: peter creation_date: 2009-10-14T09:37:19Z [Term] id: HP:0010559 name: Vertical clivus def: "An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum)." [HPO:curators] xref: UMLS:C1844702 "Vertical clivus" is_a: HP:0010558 ! Abnormality of the clivus created_by: peter creation_date: 2009-10-14T09:39:04Z [Term] id: HP:0010560 name: Undulate clavicles def: "An abnormally wavy surface or edge of the clavicles." [HPO:curators] synonym: "Wavy clavicles" EXACT [] is_a: HP:0000889 ! Abnormality of the clavicles created_by: peter creation_date: 2009-10-14T09:52:46Z [Term] id: HP:0010561 name: Undulate ribs def: "An abnormally wavy surface or edge of the ribs." [HPO:probinson] synonym: "Wavy ribs" EXACT [] xref: UMLS:C1969185 "Wavy ribs" is_a: HP:0000772 ! Abnormality of the ribs created_by: peter creation_date: 2009-10-14T09:56:07Z [Term] id: HP:0010562 name: Keloids def: "Presence of one or more keloids. A keloid is a sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair." [MeSH:D007627] subset: hposlim_core xref: MEDRA:10023330 "Keloid scar" xref: MeSH:D007627 "Keloid" xref: SNOMEDCT:58405006 "Keloid" xref: UMLS:C0022548 "Keloids" is_a: HP:0000987 ! Atypical scarring of skin created_by: peter creation_date: 2009-10-15T07:39:56Z [Term] id: HP:0010564 name: Bifid epiglottis def: "A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." [HPO:curators] xref: UMLS:C0339864 "Bifid epiglottis" is_a: HP:0005483 ! Abnormality of the epiglottis property_value: HP:0040005 "A midline anterior-posterior cleft of the `epiglottis` (FMA:55130) that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation." xsd:string {xref="HPO:curators"} created_by: sandra1 creation_date: 2009-10-16T02:20:48Z [Term] id: HP:0010565 name: Aplasia/Hypoplasia of the Epiglottis def: "This term applies if the Epiglottis is absent or hypoplastic." [HPO:curators] is_a: HP:0005483 ! Abnormality of the epiglottis created_by: sandra1 creation_date: 2009-10-16T02:27:31Z [Term] id: HP:0010566 name: Hamartoma def: "A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." [HPO:curators] xref: MeSH:D006222 "Hamartoma" xref: UMLS:C0018552 "Hamartomas" is_a: HP:0011792 ! Neoplasm by histology created_by: sandra1 creation_date: 2009-10-16T02:51:16Z [Term] id: HP:0010567 name: Y-shaped metatarsals def: "Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly." [HPO:curators] is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: sandra1 creation_date: 2009-10-16T06:50:11Z [Term] id: HP:0010568 name: Hamartoma of the eye def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye." [HPO:probinson] is_a: HP:0010566 ! Hamartoma is_a: HP:0012372 ! Abnormal eye morphology created_by: sandra1 creation_date: 2009-10-17T12:57:24Z [Term] id: HP:0010569 name: Elevated 7-dehydrocholesterol def: "Elevated 7-dehydrocholesterol levels." [HPO:probinson] comment: Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome. synonym: "Elevated levels of cholesta-5,7-dien-3beta-ol" EXACT [] is_a: HP:0003107 ! Abnormality of cholesterol metabolism property_value: HP:0040005 "Elevated `7-dehydrocholesterol` (CHEBI:17759) levels." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2009-10-19T08:49:58Z [Term] id: HP:0010570 name: Low maternal serum alpha-fetoprotein def: "An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [HPO:probinson] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2009-10-20T07:01:24Z [Term] id: HP:0010571 name: Elevated levels of phytanic acid def: "An abnormal elevation of phytanic acid." [HPO:curators] comment: Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things. is_a: HP:0010965 ! Abnormality of phytanic acid metabolism property_value: HP:0040005 "An abnormal elevation of `phytanic acid` (CHEBI:16285)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-10-20T07:19:29Z [Term] id: HP:0010574 name: Abnormality of the epiphysis of the femoral head alt_id: HP:0010589 def: "Any abnormality of the proximal epiphysis of the femur." [HPO:sdoelken] comment: Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head. synonym: "Abnormality of the proximal femoral epiphysis" EXACT [] is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0006499 ! Abnormality of femoral epiphyses property_value: HP:0040005 "Any abnormality of the `proximal epiphysis of the femur` (FMA:32841)." xsd:string {xref="HPO:sdoelken"} created_by: sandra1 creation_date: 2009-10-21T01:28:23Z [Term] id: HP:0010575 name: Dysplasia of the femoral head def: "The presence of developmental dysplasia of the femoral head." [HPO:probinson] synonym: "Dysplastic femoral head" EXACT [] is_a: HP:0003368 ! Abnormality of the femoral head property_value: HP:0040005 "The presence of `developmental dysplasia` (MPATH:64) of the `femoral head` (FMA:32851)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2009-10-21T01:30:40Z [Term] id: HP:0010576 name: Intracranial cystic lesion def: "A cystic lesion originating within the brain." [HPO:probinson] synonym: "Cerebral cystic malformation" EXACT [] is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: sandra1 creation_date: 2009-10-22T01:38:49Z [Term] id: HP:0010577 name: Absent epiphyses is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010578 name: Bracket epiphyses is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010579 name: Cone-shaped epiphysis alt_id: HP:0000937 alt_id: HP:0006078 def: "Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery." [HPO:probinson] synonym: "Cone-shaped epiphyses" EXACT [] xref: UMLS:C1865037 "Cone-shaped epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010580 name: Enlarged epiphyses alt_id: HP:0003018 alt_id: HP:0003055 alt_id: HP:0005082 def: "Increased size of epiphyses." [HPO:probinson] synonym: "Large epiphyses" EXACT [] synonym: "Widened, distorted epiphyses" EXACT [] xref: UMLS:C1848495 "Enlarged epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010582 name: Irregular epiphyses alt_id: HP:0002765 alt_id: HP:0003039 alt_id: HP:0005007 alt_id: HP:0005023 alt_id: HP:0005749 alt_id: HP:0010581 def: "An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance." [HPO:probinson] xref: UMLS:C1846449 "Irregular epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010583 name: Ivory epiphyses def: "Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:sdoelken] synonym: "Epiphyseal sclerosis" EXACT [] xref: UMLS:C1856911 "Ivory epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010584 name: Pseudoepiphyses xref: UMLS:C1841685 "Pseudoepiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010585 name: Small epiphyses alt_id: HP:0005730 def: "Reduction in the size or volume of epiphyses." [HPO:probinson] xref: UMLS:C1846803 "Small epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010587 name: Triangular epiphyses is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010588 name: Premature epimetaphyseal fusion def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson, pmid:12624140] comment: The epiphysis is the rounded end of a long bone, at its joint with adjacent bone. synonym: "Premature closure of epiphyses" EXACT [] is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010590 name: Abnormality of the distal femoral epiphysis def: "Any abnormality of the distal epiphysis of the femur." [HPO:probinson] is_a: HP:0006499 ! Abnormality of femoral epiphyses property_value: HP:0040005 "Any abnormality of the `distal epiphysis of the femur` (FMA:32844)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2009-10-22T03:00:23Z [Term] id: HP:0010591 name: Abnormality of the proximal tibial epiphysis def: "Any abnormality of the proximal epiphysis of the tibia." [HPO:curators] is_a: HP:0006508 ! Abnormality of tibial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010592 name: Abnormality of the distal tibial epiphysis is_a: HP:0006508 ! Abnormality of tibial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:03:04Z [Term] id: HP:0010593 name: Abnormality of fibular epiphyses is_a: HP:0006500 ! Abnormality involving the epiphyses of the lower limbs created_by: sandra1 creation_date: 2009-10-22T03:03:34Z [Term] id: HP:0010594 name: Abnormality of the proximal fibular epiphysis def: "Any abnormality of the proximal epiphysis of the fibula." [HPO:curators] is_a: HP:0010593 ! Abnormality of fibular epiphyses created_by: sandra1 creation_date: 2009-10-22T03:04:39Z [Term] id: HP:0010595 name: Abnormality of the distal fibular epiphysis def: "Any abnormality of the distal epiphysis of the fibula." [HPO:curators] is_a: HP:0010593 ! Abnormality of fibular epiphyses created_by: sandra1 creation_date: 2009-10-22T03:04:39Z [Term] id: HP:0010596 name: Abnormality of the proximal radial epiphysis def: "Any abnormality of the proximal epiphysis of the radius." [HPO:curators] is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow is_a: HP:0003999 ! Abnormality of radial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:06:29Z [Term] id: HP:0010597 name: Abnormality of the distal radial epiphysis def: "Any abnormality of the distal epiphysis of the radius." [HPO:curators] is_a: HP:0003999 ! Abnormality of radial epiphyses created_by: sandra1 creation_date: 2009-10-22T03:06:29Z [Term] id: HP:0010598 name: Abnormality of the proximal humeral epiphysis def: "Any abnormality of the proximal epiphysis of the humerus." [HPO:curators] is_a: HP:0003891 ! Abnormality of the humeral epiphysis created_by: sandra1 creation_date: 2009-10-22T06:40:29Z [Term] id: HP:0010599 name: Abnormality of the distal humeral epiphysis def: "Any abnormality of the distal epiphysis of the humerus." [HPO:curators] is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow created_by: sandra1 creation_date: 2009-10-22T06:40:29Z [Term] id: HP:0010600 name: Abnormality of the distal ulnar epiphysis def: "Any abnormality of the distal epiphysis of the ulna." [HPO:curators] is_a: HP:0004037 ! Abnormality of the ulnar epiphyses created_by: sandra1 creation_date: 2009-10-22T06:41:21Z [Term] id: HP:0010601 name: Abnormality of the proximal ulnar epiphysis def: "Any abnormality of the proximal epiphysis of the ulna." [HPO:curators] is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow is_a: HP:0004037 ! Abnormality of the ulnar epiphyses created_by: sandra1 creation_date: 2009-10-22T06:41:21Z [Term] id: HP:0010602 name: Type 2 muscle fiber predominance def: "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson] synonym: "Type II muscle fiber predominance" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers created_by: peter creation_date: 2009-10-25T09:56:24Z [Term] id: HP:0010603 name: Keratocystic odontogenic tumor def: "A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour." [HPO:curators, pmid:18353202] comment: Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla. synonym: "Keratocysts of the jaw" EXACT [] synonym: "Odontogenic keratocysts of the jaw" EXACT [HPO:curators] is_a: HP:0100612 ! Odontogenic neoplasm created_by: sandra1 creation_date: 2009-10-27T02:26:31Z [Term] id: HP:0010604 name: Cyst of the eyelid is_a: HP:0010732 ! Nodular changes affecting the eyelids is_a: HP:0200040 ! Epidermoid cyst created_by: sandra1 creation_date: 2009-10-27T10:57:50Z [Term] id: HP:0010605 name: Chalazion def: "A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes." [HPO:probinson] synonym: "Meibomian gland lipogranuloma" EXACT [HPO:curators] xref: MeSH:D017043 "Chalazion" xref: UMLS:C1034112 "Chalazion" is_a: HP:0010604 ! Cyst of the eyelid created_by: sandra1 creation_date: 2009-10-27T10:58:24Z [Term] id: HP:0010606 name: Hordeolum def: "An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling." [HPO:sdoelken] xref: MeSH:D006726 "Hordeolum" xref: UMLS:C0019917 "Hordeolum" is_a: HP:0010604 ! Cyst of the eyelid created_by: sandra1 creation_date: 2009-10-27T11:01:13Z [Term] id: HP:0010607 name: Hordeolum externum def: "Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling." [HPO:curators] xref: UMLS:C0019919 "Hordeolum externum" is_a: HP:0010606 ! Hordeolum created_by: sandra1 creation_date: 2009-10-27T11:33:07Z [Term] id: HP:0010608 name: Hordeolum internum def: "Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling." [HPO:curators] xref: UMLS:C0085690 "Hordeolum internum" is_a: HP:0010606 ! Hordeolum created_by: sandra1 creation_date: 2009-10-27T11:33:25Z [Term] id: HP:0010609 name: Skin tags def: "Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region." [HPO:sdoelken] synonym: "Acrochorda" EXACT [] xref: UMLS:C0037293 "Skin tags" is_a: HP:0011355 ! Localized skin lesion created_by: sandra1 creation_date: 2009-10-27T11:41:03Z [Term] id: HP:0010610 name: Palmar pits xref: UMLS:C0423776 "Palmar pits" is_a: HP:0005922 ! Abnormal hand morphology is_a: HP:0100276 ! Skin pit created_by: sandra1 creation_date: 2009-10-28T01:23:05Z [Term] id: HP:0010612 name: Plantar pits def: "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot." [HPO:probinson] xref: UMLS:C1852301 "Plantar pits" is_a: HP:0100276 ! Skin pit is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: HP:0040005 "The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the `skin of sole of foot` (FMA:37849)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2009-10-28T01:25:57Z [Term] id: HP:0010614 name: Fibroma def: "Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \"fibroblastic\" or \"fibromatous\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors." [HPO:curators] xref: MeSH:D005350 "Fibroma" xref: UMLS:C0016045 "fibroma" is_a: HP:0012316 ! Fibrous tissue neoplasm is_a: HP:0100242 ! Sarcoma created_by: sandra1 creation_date: 2009-10-28T05:52:39Z [Term] id: HP:0010615 name: Angiofibromas def: "Angiofibroma consist of many often dilated vessels." [HPO:curators] xref: MeSH:D018322 "Angiofibroma" xref: UMLS:C0206731 "Angiofibromas" is_a: HP:0010614 ! Fibroma created_by: sandra1 creation_date: 2009-10-28T06:00:14Z [Term] id: HP:0010616 name: Lung fibroma def: "The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule." [HPO:curators] xref: UMLS:C1334444 "Lung Fibroma" is_a: HP:0010614 ! Fibroma is_a: HP:0100526 ! Neoplasm of the lung created_by: sandra1 creation_date: 2009-10-28T06:04:01Z [Term] id: HP:0010617 name: Cardiac fibroma def: "A fibroma of the heart." [HPO:probinson] xref: UMLS:C1096654 "Cardiac fibroma" is_a: HP:0010614 ! Fibroma is_a: HP:0100544 ! Neoplasm of the heart property_value: HP:0040005 "A `fibroma` (MPATH:407) of the `heart` (FMA:7088)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010618 name: Ovarian fibroma def: "The presence of a fibroma of the ovary." [HPO:probinson] comment: Ovarian fibromas belong to the sex cord-stromal tumour group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan. xref: UMLS:C0149951 "Ovarian fibroma" is_a: HP:0010614 ! Fibroma is_a: HP:0100615 ! Ovarian neoplasm property_value: HP:0040005 "The presence of a `fibroma` (MPATH:407) of the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010619 name: Fibroma of the breast def: "The presence of a fibroma of the breast." [HPO:probinson] comment: A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman. is_a: HP:0010614 ! Fibroma is_a: HP:0100013 ! Neoplasm of the breast property_value: HP:0040005 "The presence of a `fibroma` (MPATH:407) of the `breast` (FMA:9601)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010620 name: Malar prominence alt_id: HP:0000310 def: "Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face." [DDD:jclayton-smith] comment: Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle. subset: hposlim_core synonym: "Malar hyperplasia" EXACT [] synonym: "Prominent malar region" EXACT [] synonym: "Prominent midface" EXACT [] xref: UMLS:C1858732 "Prominent midface" is_a: HP:0012369 ! Malar anomaly created_by: peter creation_date: 2009-11-02T07:53:02Z [Term] id: HP:0010621 name: Cutaneous syndactyly of toes alt_id: HP:0001990 alt_id: HP:0004707 alt_id: HP:0010555 def: "A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria." [HPO:probinson, pmid:19125433] subset: hposlim_core synonym: "Cutaneous syndactyly (feet)" EXACT [] synonym: "soft tissue syndactyly of toes" EXACT [] synonym: "Syndactyly, cutaneous (feet)" EXACT [] is_a: HP:0001770 ! Toe syndactyly is_a: HP:0012725 ! Cutaneous syndactyly created_by: doelkens creation_date: 2009-11-18T10:32:21Z [Term] id: HP:0010622 name: Neoplasm of the skeletal system def: "A tumor (abnormal growth of tissue) of the skeleton." [HPO:probinson] synonym: "Neoplasia of the skeletal system" NARROW [] is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: HP:0040005 "A benign or malignant `neoplasm` (MPATH:218) (tumour) originating in the `skeleton` (FMA:23875)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-06-25T08:54:46Z [Term] id: HP:0010624 name: Aplastic/hypoplastic toenail alt_id: HP:0008381 alt_id: HP:0008389 def: "Absence or underdevelopment of the toenail." [HPO:probinson] synonym: "Aplastic/hypoplastic toenails" EXACT [] synonym: "Hypoplastic-absent toenails" EXACT [] xref: UMLS:C1856749 "Hypoplastic-absent toenails" is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails is_a: HP:0008388 ! Abnormality of the toenails property_value: HP:0040005 "Absence or underdevelopment of the `toenail`(FMA:54328)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-11-20T05:55:11Z [Term] id: HP:0010625 name: Anterior pituitary dysgenesis def: "Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis." [DDD:spark, HPO:probinson] is_a: HP:0011747 ! Abnormality of the anterior pituitary property_value: HP:0040005 "Absence or underdevelopment of the anterior pituitary gland, also known as the `adenohypophysis` (FMA:74627)." xsd:string {xref="DDD:spark", xref="HPO:probinson"} created_by: peter creation_date: 2009-12-05T03:03:17Z [Term] id: HP:0010626 name: Anterior pituitary agenesis def: "Absence of the pituitary gland resulting from a developmental defect." [DDD:spark, HPO:probinson] synonym: "Aplasia of the pituitary gland" EXACT [] is_a: HP:0010625 ! Anterior pituitary dysgenesis created_by: peter creation_date: 2009-12-05T03:04:20Z [Term] id: HP:0010627 name: Anterior pituitary hypoplasia alt_id: HP:0008238 def: "Underdevelopment of the anterior pituitary gland." [DDD:spark, HPO:probinson] synonym: "Hypoplasia of the pituitary gland" RELATED [] xref: UMLS:C1859775 "Anterior pituitary hypoplasia" is_a: HP:0010625 ! Anterior pituitary dysgenesis created_by: peter creation_date: 2009-12-05T03:04:48Z [Term] id: HP:0010628 name: Facial palsy alt_id: HP:0000296 alt_id: HP:0000302 alt_id: HP:0000344 alt_id: HP:0000353 alt_id: HP:0002008 alt_id: HP:0002259 alt_id: HP:0002517 alt_id: HP:0004670 alt_id: HP:0007212 alt_id: HP:0200004 def: "Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form." [HPO:sdoelken] comment: Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis. subset: hposlim_core synonym: "Bell's palsy" EXACT [] synonym: "Cranial nerve VII palsy" EXACT [] synonym: "Facial muscle weakness" RELATED [] synonym: "Facial muscle weakness of muscles innervated by CN VII" RELATED [] synonym: "Facial nerve palsy" EXACT [] synonym: "Facial nerve paralysis" EXACT [] synonym: "Facial palsy, unilateral or bilateral" EXACT [] synonym: "Facial weakness" RELATED [] synonym: "Seventh cranial nerve palsy" EXACT [] synonym: "VII th cranial nerve palsy" EXACT [] xref: SNOMEDCT:280816001 "Facial palsy" xref: UMLS:C0015464 "Facial nerve palsy" is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001324 ! Muscle weakness is_a: HP:0006824 ! Cranial nerve paralysis is_a: HP:0010827 ! Abnormality of the seventh cranial nerve created_by: peter creation_date: 2009-12-06T05:08:30Z [Term] id: HP:0010629 name: Abnormality of the cortex of the humerus def: "Any abnormality affecting the cortex of the humerus." [HPO:curators] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003103 ! Abnormal cortical bone morphology created_by: peter creation_date: 2009-12-06T05:45:26Z [Term] id: HP:0010630 name: Abnormality of metatarsal epiphysis def: "Any abnormality of a metatarsal bone epiphysis." [HPO:curators] synonym: "Abnormality of the epiphyses of the metatarsals" EXACT [] is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0010631 ! Abnormality of the epiphyses of the feet property_value: HP:0040005 "Any abnormality of a `metatarsal bone epiphysis` (FMA:33814)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2009-12-06T05:58:36Z [Term] id: HP:0010631 name: Abnormality of the epiphyses of the feet def: "Any abnormality of the epiphyses of the feet." [HPO:curators] is_a: HP:0006500 ! Abnormality involving the epiphyses of the lower limbs created_by: peter creation_date: 2009-12-06T06:00:04Z [Term] id: HP:0010632 name: Total anosmia def: "Inability to detect any qualitative olfactory sensation." [HPO:curators] is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2009-12-06T07:51:50Z [Term] id: HP:0010633 name: Partial anosmia def: "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:curators] is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2009-12-06T07:52:37Z [Term] id: HP:0010634 name: Total hyposmia def: "Reduced ability to detect any qualitative olfactory sensation." [HPO:curators] is_a: HP:0004409 ! Hyposmia created_by: peter creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010635 name: Partial hyposmia def: "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:probinson] is_a: HP:0004409 ! Hyposmia created_by: peter creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010636 name: Schizencephaly def: "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [HPO:curators] xref: UMLS:C0266484 "Schizencephaly" is_a: HP:0002060 ! Abnormality of the cerebrum created_by: peter creation_date: 2009-12-06T08:05:54Z [Term] id: HP:0010637 name: Conjunctival amyloidosis def: "A form of amyloidosis that affects the conjunctiva." [HPO:probinson] comment: The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue. xref: UMLS:C0268402 "Conjunctival amyloidosis" is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0011034 ! Amyloidosis property_value: HP:0040005 "A form of `amyloidosis` (HP:0011034) that affects the `conjunctiva` (FMA:59011)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2009-12-07T03:20:51Z [Term] id: HP:0010638 name: Elevated alkaline phosphatase of hepatic origin def: "An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase property_value: HP:0040005 "An abnormally increased level of liver isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010639 name: Elevated alkaline phosphatase of bone origin alt_id: HP:0008266 def: "An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] comment: Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme. synonym: "Increased serum bone-specific alkaline phosphatase" EXACT [] xref: UMLS:C1833667 "Increased serum bone-specific alkaline phosphatase" is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase property_value: HP:0040005 "An abnormally increased level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010640 name: Abnormality of the nasal cavity def: "Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures)." [HPO:curators] is_a: HP:0000366 ! Abnormality of the nose created_by: doelkens creation_date: 2009-12-17T04:56:17Z [Term] id: HP:0010641 name: Abnormality of the midnasal cavity def: "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae." [HPO:curators] is_a: HP:0010640 ! Abnormality of the nasal cavity created_by: doelkens creation_date: 2009-12-17T04:58:21Z [Term] id: HP:0010643 name: Midnasal atresia def: "Absence or abnormal closure of the midnasal cavity." [HPO:curators] is_a: HP:0010644 ! Midnasal stenosis created_by: doelkens creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010644 name: Midnasal stenosis alt_id: HP:0010642 def: "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress." [HPO:probinson] synonym: "Midnasal atresia or stenosis" EXACT [] xref: UMLS:C1840238 "Midnasal stenosis" is_a: HP:0010641 ! Abnormality of the midnasal cavity property_value: HP:0040005 "Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the `middle nasal meatus` (FMA:53139), which in neonates can cause respiratory distress." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010645 name: Aplasia of the distal phalanges of the toes def: "Absence of the distal phalanges of the toes." [HPO:curators] is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: peter creation_date: 2010-02-17T02:41:47Z [Term] id: HP:0010646 name: Cervical spine instability def: "An abnormal lack of stability of the cervical spine." [HPO:curators] comment: The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability. xref: UMLS:C0410652 "Cervical spine instability" is_a: HP:0003319 ! Abnormality of the cervical spine created_by: doelkens creation_date: 2010-02-23T11:15:32Z [Term] id: HP:0010647 name: Abnormal elasticity of skin def: "Any abnormal increase or reduction in skin elasticity." [DDD:cmoss] is_a: HP:0011121 ! Abnormality of skin morphology created_by: doelkens creation_date: 2010-02-23T11:42:34Z [Term] id: HP:0010648 name: Dermal translucency def: "An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility." [HPO:probinson] subset: hposlim_core synonym: "Translucent skin" EXACT [] is_a: HP:0011121 ! Abnormality of skin morphology created_by: doelkens creation_date: 2010-02-23T11:50:37Z [Term] id: HP:0010649 name: Flat nasal alae def: "An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)." [HPO:probinson] is_a: HP:0000429 ! Abnormality of the nasal alae property_value: HP:0040005 "An abnormal degree of flatness of the `Ala of nose` (FMA:59519), which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-25T10:01:47Z [Term] id: HP:0010650 name: Premaxillary underdevelopment def: "Reduction in size of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla." [HPO:probinson, pmid:19125436] subset: hposlim_core synonym: "Hypoplasia of the premaxilla" RELATED [] synonym: "Hypoplastic_premaxilla" EXACT [] is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla property_value: HP:0040005 "Reduction in size of the `Premaxilla` (FMA:76869), which is the embryonic structure that forms the anterior part of the maxilla." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} created_by: peter creation_date: 2010-02-25T10:11:43Z [Term] id: HP:0010651 name: Abnormality of the meninges def: "An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater." [HPO:probinson] is_a: HP:0002011 ! Morphological abnormality of the central nervous system property_value: HP:0040005 "An abnormality of the `Meninges` (FMA:231572), including any abnormality of the `Dura mater` (FMA:9592), the `Arachnoid mater` (FMA:9591), and the `Pia mater` (FMA:9590)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-25T10:19:40Z [Term] id: HP:0010652 name: Abnormality of the dura mater def: "An abnormality of the Dura mater." [HPO:probinson] is_a: HP:0010651 ! Abnormality of the meninges property_value: HP:0040005 "An abnormality of the `Dura mater` (FMA:9592)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-25T10:29:40Z [Term] id: HP:0010653 name: Abnormality of the falx cerebri def: "An abnormality of the Falx cerebri." [HPO:probinson] comment: The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres. synonym: "Abnormality of the cerebral falx" EXACT [] is_a: HP:0010652 ! Abnormality of the dura mater property_value: HP:0040005 "An abnormality of the `Falx cerebri` (FMA:83967)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-25T10:32:52Z [Term] id: HP:0010654 name: Aplasia of the falx cerebri def: "A developmental defect characterized by aplasia of the Falx cerebri." [HPO:probinson] is_a: HP:0010653 ! Abnormality of the falx cerebri property_value: HP:0040005 "A developmental defect characterized by `aplasia` (MPATH:58) of the `Falx cerebri` (FMA:83967)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-25T10:35:26Z [Term] id: HP:0010655 name: Epiphyseal stippling alt_id: HP:0002658 alt_id: HP:0010586 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012)." [HPO:probinson] comment: Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality. synonym: "Epiphyseal punctate calcifications" EXACT [] synonym: "Stippled epiphyses" EXACT [] synonym: "Stippling of the epiphyses" EXACT [] xref: UMLS:C0008445 "Stippled Epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses is_a: HP:0010656 ! Abnormal epiphyseal ossification is_a: HP:0010766 ! Ectopic calcification created_by: doelkens creation_date: 2010-02-25T09:41:24Z [Term] id: HP:0010656 name: Abnormal epiphyseal ossification def: "An abnormality of the formation and mineralization of an epiphysis." [HPO:probinson] synonym: "Abnormality of the mineralisation or ossification of the epiphyses" EXACT [] is_a: HP:0003336 ! Abnormal enchondral ossification property_value: HP:0040005 "An abnormality of the formation and mineralization of an `epiphysis` (FMA:24012)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-02-25T09:43:04Z [Term] id: HP:0010657 name: Patchy reduction of bone mineral density def: "Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] is_a: HP:0002797 ! Osteolysis is_a: HP:0004349 ! Reduced bone mineral density is_a: HP:0010658 ! Patchy changes of bone mineral density created_by: doelkens creation_date: 2010-02-25T10:32:54Z [Term] id: HP:0010658 name: Patchy changes of bone mineral density def: "Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density)." [HPO:curators] is_a: HP:0004348 ! Abnormality of bone mineral density created_by: doelkens creation_date: 2010-02-25T10:42:39Z [Term] id: HP:0010659 name: Patchy variation in bone mineral density def: "Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays." [HPO:probinson] synonym: "Patchy increased and decreased bone mineral density" EXACT [] is_a: HP:0004349 ! Reduced bone mineral density is_a: HP:0010658 ! Patchy changes of bone mineral density created_by: doelkens creation_date: 2010-02-25T10:49:23Z [Term] id: HP:0010660 name: Abnormal hand bone ossification def: "An abnormality of the formation and mineralization of any bone of the skeleton of hand." [HPO:probinson] synonym: "Abnormality of the mineralisation and ossification of bones of the hand" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003336 ! Abnormal enchondral ossification property_value: HP:0040005 "An abnormality of the formation and mineralization of any bone of the `skeleton of hand` (FMA:24159)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-02-25T05:18:19Z [Term] id: HP:0010661 name: Absence of the third cerebral ventricle def: "A developmental defect characterized by the absence of the Third ventricle." [HPO:probinson] is_a: HP:0010951 ! Abnormality of the third ventricle property_value: HP:0040005 "A developmental defect characterized by the absence of the `Third ventricle` (FMA:78454)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:00:47Z [Term] id: HP:0010662 name: Abnormality of the diencephalon def: "An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain." [HPO:probinson] comment: The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum. is_a: HP:0100547 ! Abnormality of forebrain morphology property_value: HP:0040005 "An abnormality of the `Diencephalon` (FMA:62001), which together with the cerebrum (telencephalon) makes up the forebrain." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:02:38Z [Term] id: HP:0010663 name: Abnormality of thalamus morphology def: "An abnormality of the thalamus." [HPO:probinson] synonym: "Abnormality of the thalamus" EXACT [] is_a: HP:0010662 ! Abnormality of the diencephalon property_value: HP:0040005 "An abnormality of the `thalamus` (FMA:62007)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:03:50Z [Term] id: HP:0010664 name: Fusion of the left and right thalami def: "A developmental defect characterized by fusion of the left and right halves of the thalamus." [HPO:probinson] synonym: "Fused thalami" EXACT [] synonym: "Fusion of thamali" RELATED [] synonym: "Undivided thalami" EXACT [] xref: UMLS:C1834930 "Fused thalami" is_a: HP:0010663 ! Abnormality of thalamus morphology property_value: HP:0040005 "A developmental defect characterized by fusion of the left and right halves of the `thalamus` (FMA:62007)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:04:37Z [Term] id: HP:0010665 name: Bilateral coxa valga def: "The presence of bilateral coxa_valga." [HPO:probinson] is_a: HP:0002673 ! Coxa valga property_value: HP:0040005 "The presence of bilateral `coxa_valga` (HP:0002673)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:07:03Z [Term] id: HP:0010666 name: Hypoplasia of the anterior nasal spine def: "Underdevelopment of the anterior nasal spine of maxilla." [HPO:probinson] is_a: HP:0000327 ! Hypoplasia of the maxilla property_value: HP:0040005 "Underdevelopment of the `anterior nasal spine of maxilla` (FMA:75770)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:10:11Z [Term] id: HP:0010667 name: Aplasia of the maxilla def: "A congenital defect characterized by absence of the Maxilla." [HPO:probinson] is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla is_a: HP:0040008 ! Aplasia of facial bones property_value: HP:0040005 "A congenital defect characterized by absence of the `Maxilla` (FMA:9711)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:11:45Z [Term] id: HP:0010668 name: Abnormality of the zygomatic bone def: "An abnormality of the zygomatic bone." [HPO:curators] is_a: HP:0005557 ! Abnormality of the zygomatic arch property_value: HP:0040005 "An abnormality of the `zygomatic bone` (FMA:52747)." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2010-02-26T08:13:11Z [Term] id: HP:0010669 name: Cheekbone underdevelopment def: "Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin." [HPO:probinson, pmid:19125436] synonym: "Hypoplasia of the zygomatic bone" EXACT [] is_a: HP:0002692 ! Hypoplastic facial bones is_a: HP:0010668 ! Abnormality of the zygomatic bone property_value: HP:0040005 "Underdevelopment of the `zygomatic bone` (FMA:52747). That is, a reduction in size of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} created_by: peter creation_date: 2010-02-26T08:14:04Z [Term] id: HP:0010672 name: Abnormality of the third metatarsal bone def: "An abnormality of the third metatarsal bone." [HPO:probinson] is_a: HP:0001832 ! Abnormality of the metatarsal bones property_value: HP:0040005 "An abnormality of the `third metatarsal bone` (FMA:24504)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-02-26T08:22:51Z [Term] id: HP:0010674 name: Abnormality of the curvature of the vertebral column def: "The presence of an abnormal curvature of the vertebral column." [HPO:probinson] is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "The presence of an `abnormal` (PATO:0000460) `curvature` (PATO:0001591) of the `vertebral column` (FMA:13478)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2010-02-27T06:28:19Z [Term] id: HP:0010675 name: Abnormal foot bone ossification alt_id: HP:0008370 alt_id: HP:0009133 def: "An abnormality of the formation and mineralization of any bone of the skeleton of foot." [HPO:probinson] synonym: "Abnormal ossification involving bones of the feet" RELATED [] synonym: "Abnormality of the mineralisation and ossification of bones of the feet" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0003336 ! Abnormal enchondral ossification property_value: HP:0040005 "An abnormality of the formation and mineralization of any bone of the `skeleton of foot` (FMA:24222)." xsd:string {xref="HPO:probinson"} created_by: sandra1 creation_date: 2010-02-28T05:27:47Z [Term] id: HP:0010676 name: Mechanical ileus xref: UMLS:C0400843 "Mechanical ileus" is_a: HP:0002595 ! Ileus created_by: sandra1 creation_date: 2010-03-01T08:43:38Z [Term] id: HP:0010677 name: Enuresis nocturna def: "Enuresis occurring during sleeping hours." [HPO:sdoelken] synonym: "Nocturnal enuresis" EXACT [] xref: MeSH:D053206 "Nocturnal Enuresis" is_a: HP:0000805 ! Enuresis property_value: HP:0040005 "`Enuresis` (HP:0000805) occurring during sleeping hours." xsd:string {xref="HPO:sdoelken"} created_by: sandra1 creation_date: 2010-03-01T09:11:31Z [Term] id: HP:0010678 name: Enuresis diurna def: "Enuresis occurring during waking hours of the day." [HPO:sdoelken] is_a: HP:0000805 ! Enuresis property_value: HP:0040005 "`Enuresis` (HP:0000805) occurring during waking hours of the day." xsd:string {xref="HPO:sdoelken"} created_by: sandra1 creation_date: 2010-03-01T09:11:51Z [Term] id: HP:0010679 name: Elevated tissue non-specific alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] comment: Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL ). synonym: "Elevated alkaline phosphatase, liver/bone/kidney" EXACT [] is_a: HP:0003155 ! Elevated alkaline phosphatase property_value: HP:0040005 "An abnormally increased level of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:08:35Z [Term] id: HP:0010680 name: Elevated alkaline phosphatase of renal origin def: "An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase is_a: HP:0012211 ! Abnormal renal physiology property_value: HP:0040005 "An abnormally increased level of kidney isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:09:59Z [Term] id: HP:0010681 name: Elevated intestinal alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, intestinal type in the blood." [HPO:probinson] comment: Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN). is_a: HP:0003155 ! Elevated alkaline phosphatase property_value: HP:0040005 "An abnormally increased level of `alkaline phosphatase, intestinal type` (PRO:000003964) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:10:34Z [Term] id: HP:0010682 name: Elevated placental alkaline phosphatase def: "An abnormally increased level of alkaline phosphatase, placental type in the blood." [HPO:probinson] comment: Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN). is_a: HP:0003155 ! Elevated alkaline phosphatase property_value: HP:0040005 "An abnormally increased level of `alkaline phosphatase, placental type` (PRO:000003969) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:11:06Z [Term] id: HP:0010683 name: Low tissue non-specific alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] is_a: HP:0003282 ! Low alkaline phosphatase property_value: HP:0040005 "An abnormally reduced level of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:12:08Z [Term] id: HP:0010684 name: Low alkaline phosphatase of bone origin def: "An abnormally reduced level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] is_a: HP:0010683 ! Low tissue non-specific alkaline phosphatase property_value: HP:0040005 "An abnormally reduced level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010685 name: Low alkaline phosphatase of renal origin def: "An abnormally reduced level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] is_a: HP:0010683 ! Low tissue non-specific alkaline phosphatase is_a: HP:0012211 ! Abnormal renal physiology property_value: HP:0040005 "An abnormally reduced level of kidney isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010686 name: Low alkaline phosphatase of hepatic origin def: "An abnormally reduced level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood." [HPO:probinson] is_a: HP:0010683 ! Low tissue non-specific alkaline phosphatase property_value: HP:0040005 "An abnormally reduced level of liver isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010687 name: Low intestinal alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, intestinal type in the blood." [HPO:probinson] is_a: HP:0003282 ! Low alkaline phosphatase property_value: HP:0040005 "An abnormally reduced level of `alkaline phosphatase, intestinal type` (PRO:000003964) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:13:10Z [Term] id: HP:0010688 name: Low placental alkaline phosphatase def: "An abnormally reduced level of alkaline phosphatase, placental type in the blood." [HPO:probinson] is_a: HP:0003282 ! Low alkaline phosphatase property_value: HP:0040005 "An abnormally reduced level of `alkaline phosphatase, placental type` (PRO:000003969) in the blood." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-03-05T11:13:28Z [Term] id: HP:0010689 name: Mirror image polydactyly def: "A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes." [HPO:sdoelken, pmid:19125433] comment: Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA. synonym: "Mirror image duplication of digits" EXACT [] is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-03-05T05:03:16Z [Term] id: HP:0010690 name: Mirror image hand polydactyly def: "Mirror image duplication of digits affecting the hands only." [HPO:sdoelken] subset: hposlim_core synonym: "Mirror image dupliction of fingers" EXACT [] is_a: HP:0001161 ! Hand polydactyly is_a: HP:0010689 ! Mirror image polydactyly property_value: HP:0040005 "`Mirror image duplication of digits` (HP:0010689) affecting the hands only." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010691 name: Mirror image foot polydactyly def: "Mirror image duplication of digits affecting the feet." [HPO:sdoelken] synonym: "Mirror image dupliction of toes" EXACT [] is_a: HP:0001829 ! Foot polydactyly is_a: HP:0010689 ! Mirror image polydactyly property_value: HP:0040005 "`Mirror image duplication of digits` (HP:0010689) affecting the feet." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010692 name: 2-5 finger syndactyly def: "Syndactyly with fusion of fingers two to five." [HPO:sdoelken] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers two to five." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-03-05T06:41:50Z [Term] id: HP:0010693 name: Pulverulent Cataract def: "A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." [HPO:probinson, HPO:vkumar] comment: The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color. xref: UMLS:C1833118 "CATARACT, PULVERULENT" is_a: HP:0007648 ! Punctate cataract property_value: HP:0040005 "A kind of `congenital cataract` (HP:0000519) that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally." xsd:string {xref="HPO:probinson", xref="HPO:vkumar"} created_by: peter creation_date: 2010-03-11T02:49:53Z [Term] id: HP:0010694 name: Lamellar pulverulent cataract def: "A Lamellar cataract with a pulverulent (punctate, \"dust-like\" opacities) appearance." [HPO:probinson] comment: Opacities located in the perinuclear (lamellar) zones of the lens. xref: UMLS:C0266537 "Lamellar cataract" is_a: HP:0007971 ! Lamellar cataract property_value: HP:0040005 "A `Lamellar cataract` (HP:0007971) with a pulverulent (punctate, \"dust-like\" opacities) appearance." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-03-20T11:43:14Z [Term] id: HP:0010695 name: Sutural cataract def: "A type of congenital cataract in which the opacity follows the anterior or posterior Y suture." [HPO:probinson] comment: During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted. is_a: HP:0010920 ! Zonular cataract property_value: HP:0040005 "A type of `congenital cataract` (HP:0000519) in which the opacity follows the anterior or posterior Y suture." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-03-20T12:07:04Z [Term] id: HP:0010696 name: Polar cataract def: "A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens." [HPO:probinson] xref: UMLS:C2025392 "polar cataract" is_a: HP:0000518 ! Cataract property_value: HP:0040005 "A type of `Congenital cataract` (HP:0000519) in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-03-20T02:36:22Z [Term] id: HP:0010697 name: Anterior pyramidal cataract def: "A type of anterior polar cataract which projects as a conical opacity into the anterior chamber." [HPO:probinson] synonym: "Pyramidal cataract" RELATED [] xref: UMLS:C0086543 "Cataract" is_a: HP:0001134 ! Anterior polar cataract property_value: HP:0040005 "A type of `anterior polar cataract` (HP:0001134) which projects as a conical opacity into the anterior chamber." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-03-20T02:38:57Z [Term] id: HP:0010698 name: Nuclear pulverulent cataract def: "A type of nuclear cataract involving congenital pulverulent disc-like opacity of the embryonal and fetal nucleus." [HPO:probinson, pmid:10634616] synonym: "cataracta pulverulenta centralis" EXACT [] synonym: "Central pulverulent cataract" EXACT [] synonym: "Pulverulent nuclear cataract" EXACT [] is_a: HP:0010693 ! Pulverulent Cataract is_a: HP:0010925 ! Nuclear punctate cataract is_a: HP:0100018 ! Nuclear cataract property_value: HP:0040005 "A type of `nuclear cataract` (HP:0008024) involving congenital pulverulent disc-like opacity of the embryonal and fetal nucleus." xsd:string {xref="HPO:probinson", xref="pmid:10634616"} created_by: peter creation_date: 2010-03-20T02:53:02Z [Term] id: HP:0010699 name: Triangular nuclear cataract def: "A nuclear cataract with a triangular form." [HPO:probinson, pmid:18483562] is_a: HP:0100018 ! Nuclear cataract property_value: HP:0040005 "A `nuclear cataract` (HP:0008024) with a triangular form." xsd:string {xref="HPO:probinson", xref="pmid:18483562"} created_by: peter creation_date: 2010-03-20T02:58:26Z [Term] id: HP:0010700 name: Total cataract def: "A Congenital cataract characterized by an opacity of all the fibers of a lens." [HPO:probinson] subset: hposlim_core xref: UMLS:C0152257 "Total cataract" is_a: HP:0000518 ! Cataract property_value: HP:0040005 "A `Congenital cataract` (HP:0000519) characterized by an opacity of all the fibers of a lens." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-03-20T03:11:37Z [Term] id: HP:0010701 name: Abnormal immunoglobulin level alt_id: HP:0100032 def: "An abnormal deviation from normal levels of immunoglobulins in blood." [HPO:probinson] synonym: "abnormal immunoglobulin concentration" EXACT [] synonym: "abnormal serum immunoglobulin concentration" EXACT [] synonym: "Abnormal serum immunoglobulin levels" EXACT [HPO:skoehler] synonym: "abnormal serum level of immunoglobulin" EXACT [] synonym: "Immunoglobulin abnormality" EXACT [] is_a: HP:0005368 ! Abnormality of humoral immunity is_a: HP:0005372 ! Abnormality of B cell physiology created_by: peter creation_date: 2010-03-22T08:17:49Z [Term] id: HP:0010702 name: Hypergammaglobulinemia alt_id: HP:0002852 alt_id: HP:0004314 alt_id: HP:0004435 def: "An increased level of gamma globulin (immunoglobulin) in the blood." [HPO:probinson] comment: In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. synonym: "Elevated immunoglobulin levels" EXACT [] synonym: "Hypergammaglobulinaemia" EXACT [] synonym: "Hyperglobulinemia" EXACT [] synonym: "Increased gamma globulin" EXACT [] synonym: "Increased immunoglobulin level" EXACT [] synonym: "Increased serum gamma globulin" EXACT [] synonym: "Raised immunoglobulin levels" EXACT [] xref: MeSH:D006942 "Hypergammaglobulinemia" xref: UMLS:C0151669 "Gamma globulins increased" is_a: HP:0010701 ! Abnormal immunoglobulin level created_by: peter creation_date: 2010-03-22T08:20:07Z [Term] id: HP:0010704 name: 1-2 finger syndactyly def: "Syndactyly with fusion of fingers one and two." [HPO:sdoelken] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers one and two." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:07:14Z [Term] id: HP:0010705 name: 4-5 finger syndactyly def: "Syndactyly with fusion of fingers four and five." [HPO:sdoelken] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers four and five." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010706 name: 1-3 finger syndactyly def: "Syndactyly with fusion of fingers one to three." [HPO:sdoelken] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers one to three." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010707 name: 1-4 finger syndactyly def: "Syndactyly with fusion of fingers one to four." [HPO:sdoelken] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers one to four." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010708 name: 1-5 finger syndactyly def: "Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand)." [HPO:sdoelken] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers one to five (complete syndactyly of all fingers of the hand)." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010709 name: 2-4 finger syndactyly alt_id: HP:0005797 alt_id: HP:0006018 def: "Syndactyly with fusion of the fingers two to four." [HPO:sdoelken] synonym: "Syndactyly of second to fourth fingers" EXACT [] is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of the fingers two to four." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010710 name: 3-5 finger syndactyly def: "Syndactyly with fusion of fingers three to five." [HPO:sdoelken] xref: UMLS:C0221352 "Finger syndactyly" is_a: HP:0006101 ! Finger syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of fingers three to five." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010711 name: 1-2 toe syndactyly def: "Syndactyly with fusion of toes one and two." [HPO:sdoelken] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes one and two." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010712 name: 1-4 toe syndactyly def: "Syndactyly with fusion of toes one to four." [HPO:sdoelken] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes one to four." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010713 name: 1-5 toe syndactyly alt_id: HP:0005812 def: "Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot)." [HPO:sdoelken] synonym: "Syndactyly of all toes" EXACT [] is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes one to five (complete syndactyly of all toes of the foot)." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010714 name: 2-4 toe syndactyly alt_id: HP:0005642 alt_id: HP:0005708 def: "Syndactyly with fusion of toes two to four." [HPO:sdoelken] synonym: "Syndactyly of toes 2, 3 and 4" EXACT [] synonym: "Syndactyly toes 2-4" EXACT [] is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes two to four." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010715 name: 2-5 toe syndactyly def: "Syndactyly with fusion of toes two to five." [HPO:sdoelken] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes two to five." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010716 name: 3-5 toe syndactyly def: "Syndactyly with fusion of toes three to five." [HPO:sdoelken] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001770 ! Toe syndactyly property_value: HP:0040005 "`Syndactyly` (HP:0001159) with fusion of toes three to five." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010717 name: Osseous syndactyly of toes def: "Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:sdoelken] subset: hposlim_core synonym: "Osseous syndactyly of the toes" EXACT [] is_a: HP:0001770 ! Toe syndactyly created_by: sdoelken creation_date: 2010-03-26T05:31:50Z [Term] id: HP:0010719 name: Abnormality of hair texture alt_id: HP:0002295 alt_id: HP:0003776 def: "An abnormality of the texture of the hair." [HPO:probinson] is_a: HP:0001595 ! Abnormality of the hair property_value: HP:0040005 "An abnormality of the texture of the `hair` (FMA:53667)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-20T09:41:53Z [Term] id: HP:0010720 name: Abnormal hair pattern def: "An abnormality of the distribution of hair growth." [HPO:probinson] is_a: HP:0001595 ! Abnormality of the hair created_by: sdoelken creation_date: 2010-04-20T09:53:15Z [Term] id: HP:0010721 name: Abnormal hair whorl def: "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [HPO:probinson] synonym: "ABNORMAL HAIR WHORLS" EXACT [HPO:skoehler] is_a: HP:0011361 ! Congenital abnormal hair pattern created_by: sdoelken creation_date: 2010-04-20T10:05:04Z [Term] id: HP:0010722 name: Asymmetry of the ears def: "An asymmetriy, i.e., difference in size, shape or position between the left and right ear." [HPO:probinson] subset: hposlim_core synonym: "Asymmetric ears" EXACT [] xref: UMLS:C1168239 "Asymmetric ears" is_a: HP:0000357 ! Abnormal location of ears is_a: HP:0000377 ! Abnormality of the pinna property_value: HP:0040005 "An `asymmetriy` (PATO:0000616), i.e., difference in size or shape between the left and right `ear` (FMA:52780 )." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-20T10:11:45Z [Term] id: HP:0010723 name: Cystic lesions of the pinnae alt_id: HP:0008557 is_a: HP:0000377 ! Abnormality of the pinna created_by: sdoelken creation_date: 2010-04-20T10:17:01Z [Term] id: HP:0010724 name: Advanced pneumatization of the mastoid process def: "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms." [HPO:probinson] subset: hposlim_core is_a: HP:0000264 ! Abnormality of the mastoid property_value: HP:0040005 "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the `mastoid process` (FMA:52872) with respect to age-dependent norms." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-20T10:38:57Z [Term] id: HP:0010726 name: Prominent corneal nerve fibers def: "Abnormal prominence of the corneal nerve fibers." [DDD:ncarter, HPO:probinson] synonym: "Visible corneal nerve fibers" EXACT [] is_a: HP:0011492 ! Abnormality of corneal stroma created_by: sdoelken creation_date: 2010-04-20T10:52:24Z [Term] id: HP:0010727 name: Spontaneous rupture of the globe def: "Rupture of the eyeball not due to trauma." [HPO:probinson] subset: hposlim_core is_a: HP:0012374 ! Abnormality of the globe created_by: sdoelken creation_date: 2010-04-20T11:05:28Z [Term] id: HP:0010728 name: Aplasia of the retina def: "A developmental defect characterized by absence of the retina." [HPO:probinson] is_a: HP:0008061 ! Aplasia/Hypoplasia affecting the retina property_value: HP:0040005 "A developmental defect characterized by absence of the `retina` (FMA:58301)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-20T11:09:59Z [Term] id: HP:0010729 name: Cherry red spot of the macula def: "Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula." [HPO:probinson] synonym: "Macular cherry red spot" EXACT [] xref: SNOMEDCT:49473001 "Cherry red spot" xref: UMLS:C0278234 "Cherry red spot" is_a: HP:0001103 ! Abnormality of the macula created_by: sdoelken creation_date: 2010-04-20T11:14:11Z [Term] id: HP:0010730 name: Double eyebrow def: "This may present as a partial or complete duplication of the eyebrows." [HPO:sdoelken] comment: Double eyebrow is commonly a feature of Mowat Wilson syndrome. subset: hposlim_core xref: UMLS:C0431449 "Double eyebrow" is_a: HP:0000534 ! Abnormality of the eyebrow created_by: doelkens creation_date: 2010-04-21T04:16:59Z [Term] id: HP:0010731 name: Extension of eyebrows towards upper eyelid def: "The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid." [HPO:sdoelken] comment: This is commonly a feature of Jacobson syndrome. is_a: HP:0011229 ! Broad eyebrow created_by: doelkens creation_date: 2010-04-21T04:46:32Z [Term] id: HP:0010732 name: Nodular changes affecting the eyelids def: "Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more." [HPO:sdoelken] is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0200036 ! Skin nodule created_by: doelkens creation_date: 2010-04-21T05:11:04Z [Term] id: HP:0010733 name: Naevus flammeus of the eyelid def: "Naevus flammeus localised in the skin of the eyelid." [HPO:sdoelken] is_a: HP:0001052 ! Nevus flammeus property_value: HP:0040005 "`Naevus flammeus` (HP:0001052) localised in the skin of the eyelid." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-04-21T05:18:41Z [Term] id: HP:0010734 name: Fibrous dysplasia of the bones def: "Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia)." [HPO:sdoelken] is_a: HP:0003330 ! Abnormal bone structure created_by: doelkens creation_date: 2010-04-21T06:27:42Z [Term] id: HP:0010735 name: Polyostotic fibrous dysplasia def: "Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome." [HPO:sdoelken] xref: MeSH:D005359 "Fibrous Dysplasia, Polyostotic" xref: UMLS:C0242292 "POLYOSTOTIC FIBROUS DYSPLASIA" is_a: HP:0010734 ! Fibrous dysplasia of the bones property_value: HP:0040005 "`Fibrous dysplasia of the bones` (HP:0010734) were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010736 name: Monostotic fibrous dysplasia def: "Fibrous dysplasia of the bones were lesions are localized in only one bone." [HPO:sdoelken] xref: MeSH:D005358 "Fibrous Dysplasia, Monostotic" xref: UMLS:C0016064 "Fibrous Dysplasia, Monostotic" is_a: HP:0010734 ! Fibrous dysplasia of the bones property_value: HP:0040005 "`Fibrous dysplasia of the bones` (HP:0010734) were lesions are localized in only one bone." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010739 name: Osteopoikilosis def: "Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake." [HPO:sdoelken] xref: MeSH:D010023 "Osteopoikilosis" xref: UMLS:C0029455 "Osteopoikilosis" is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2010-04-21T07:19:11Z [Term] id: HP:0010740 name: Osteopathia striata def: "A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance." [HPO:sdoelken] xref: UMLS:C0265513 "Osteopathia striata" is_a: HP:0000944 ! Abnormality of the metaphyses is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0010766 ! Ectopic calcification is_a: HP:0011314 ! Abnormality of long bone morphology created_by: doelkens creation_date: 2010-04-21T07:30:24Z [Term] id: HP:0010741 name: Edema of the lower limbs def: "An abnormal accumulation of fluid beneath the skin of the legs." [HPO:probinson] synonym: "Leg edema" EXACT [] synonym: "Peripheral edema of lower extremity" EXACT [] is_a: HP:0000969 ! Edema is_a: HP:0002814 ! Abnormality of the lower limb created_by: doelkens creation_date: 2010-04-22T02:16:54Z [Term] id: HP:0010742 name: Edema of the upper limbs def: "An abnormal accumulation of fluid beneath the skin of the arms." [HPO:probinson] is_a: HP:0000969 ! Edema is_a: HP:0002817 ! Abnormality of the upper limb created_by: doelkens creation_date: 2010-04-22T02:17:15Z [Term] id: HP:0010743 name: Short metatarsal alt_id: HP:0001779 alt_id: HP:0001865 alt_id: HP:0003092 alt_id: HP:0004706 alt_id: HP:0005754 def: "Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe." [HPO:probinson, pmid:19125433] comment: This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified. subset: hposlim_core synonym: "Hypoplasia of the metatarsal bones" EXACT [] synonym: "Hypoplastic metatarsals" EXACT [] synonym: "Short metatarsal bone" EXACT [] synonym: "SHORT METATARSAL BONES" RELATED [HPO:skoehler] synonym: "Short metatarsals" EXACT [] synonym: "Shortened metatarsals" EXACT [] xref: UMLS:C1844714 "Hypoplastic metatarsals" is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones is_a: HP:0003026 ! Short long bones is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs property_value: HP:0040005 "Diminished length of a `metatarsal bone`(FMA:24492), with resultant proximal displacement of the associated toe." xsd:string {xref="HPO:probinson", xref="pmid:19125433"} created_by: doelkens creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010744 name: Absent metatarsal bone def: "A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone." [HPO:probinson] synonym: "Aplasia of the metatarsal bones" EXACT [] is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones property_value: HP:0040005 "A developmental abnormality characterized by the absence (aplasia) of a `metatarsal bone` (FMA:24492)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010745 name: Aplasia of the phalanges of the toes def: "Absence of a digit or of one or more phalanges of a toe." [HPO:probinson] synonym: "Aphalangia of the toes" EXACT [] is_a: HP:0009817 ! Aplasia involving bones of the lower limbs is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-04-22T04:33:06Z [Term] id: HP:0010746 name: Hypoplasia of the phalanges of the toes is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-04-22T04:33:06Z [Term] id: HP:0010747 name: Medial flaring of the eyebrow def: "An abnormal distribution of eyebrow hair growth in the medial direction." [HPO:probinson] subset: hposlim_core is_a: HP:0000534 ! Abnormality of the eyebrow created_by: sdoelken creation_date: 2010-04-23T09:29:58Z [Term] id: HP:0010748 name: Ectopic lacrimal punctum def: "Positioning of a lacrimal punctum other than at the medial margins of the eyelid." [pmid:19125427] comment: The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid. subset: hposlim_core synonym: "Abnormal position of the lacrimal punctum" EXACT [] is_a: HP:0011479 ! Abnormality of the lacrimal punctum created_by: sdoelken creation_date: 2010-04-23T09:35:56Z [Term] id: HP:0010749 name: Blepharochalasis def: "Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads." [PMID:3207663] comment: Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis. subset: hposlim_core xref: UMLS:C0005742 "Blepharochalasis" is_a: HP:0100540 ! Palpebral edema created_by: sdoelken creation_date: 2010-04-23T09:53:13Z [Term] id: HP:0010750 name: Dermatochalasis def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [HPO:probinson] xref: UMLS:C0010495 "Dermatochalasis" is_a: HP:0000492 ! Abnormality of the eyelid created_by: sdoelken creation_date: 2010-04-23T10:07:56Z [Term] id: HP:0010751 name: Chin dimple def: "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436] subset: hposlim_core synonym: "CHIN DIMPLES" RELATED [HPO:skoehler] xref: UMLS:C1866963 "Chin dimples" is_a: HP:0000306 ! Abnormality of the chin property_value: HP:0040005 "A persistent midline depression of the skin over the fat pad of the `chin` (FMA:46495)." xsd:string {xref="pmid:19125436"} created_by: sdoelken creation_date: 2010-04-23T10:29:03Z [Term] id: HP:0010752 name: Cleft mandible def: "Midline deficiency of the mandible and some or all overlying tissues." [pmid:19125436] subset: hposlim_core xref: SNOMEDCT:92822004 "Cleft mandible" xref: UMLS:C0685786 "Cleft mandible" is_a: HP:0010753 ! Midline defect of mandible created_by: sdoelken creation_date: 2010-04-23T10:32:09Z [Term] id: HP:0010753 name: Midline defect of mandible is_a: HP:0000277 ! Abnormality of the mandible created_by: sdoelken creation_date: 2010-04-23T10:32:46Z [Term] id: HP:0010754 name: Abnormality of the temporomandibular joint def: "An anomaly of the temporomandibular joint." [HPO:probinson] is_a: HP:0000277 ! Abnormality of the mandible property_value: HP:0040005 "An anomaly of the `temporomandibular joint` (FMA:54832)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-23T10:36:28Z [Term] id: HP:0010755 name: Asymmetry of the maxilla def: "Asymmetry between the left and right portions of the maxilla." [HPO:probinson] subset: hposlim_core is_a: HP:0000326 ! Abnormality of the maxilla created_by: sdoelken creation_date: 2010-04-23T10:38:44Z [Term] id: HP:0010756 name: Aplasia/Hypoplasia of the premaxilla def: "Absence or underdevelopment of the premaxilla." [HPO:probinson] is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla is_a: HP:0010758 ! Abnormality of the premaxilla property_value: HP:0040005 "Absence or underdevelopment of the `premaxilla` (FMA:76869)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-23T10:40:40Z [Term] id: HP:0010757 name: Aplasia of the premaxilla def: "Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla." [HPO:probinson] is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla is_a: HP:0040008 ! Aplasia of facial bones property_value: HP:0040005 "Absence of the `Premaxilla` (FMA:76869), which is the embryonic structure that forms the anterior part of the maxilla." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-23T10:42:17Z [Term] id: HP:0010758 name: Abnormality of the premaxilla def: "An abnormality of the premaxilla." [HPO:sdoelken] is_a: HP:0000326 ! Abnormality of the maxilla property_value: HP:0040005 "An abnormality of the `premaxilla` (FMA:76869)." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-04-23T10:59:07Z [Term] id: HP:0010759 name: Premaxillary Prominence def: "Prominent aspect of the premaxilla." [HPO:sdoelken, pmid:19125436] comment: As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated. subset: hposlim_core synonym: "Prominent premaxilla" EXACT [] is_a: HP:0010758 ! Abnormality of the premaxilla property_value: HP:0040005 "Prominent aspect of the `premaxilla` (FMA:76869)." xsd:string {xref="HPO:sdoelken", xref="pmid:19125436"} created_by: sdoelken creation_date: 2010-04-23T11:01:23Z [Term] id: HP:0010760 name: Absent toe alt_id: HP:0008084 alt_id: HP:0010108 alt_id: HP:0011306 def: "Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues." [HPO:probinson] comment: This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux. subset: hposlim_core synonym: "ABSENT TOES" RELATED [HPO:skoehler] synonym: "Aplasia of the toes" RELATED [] synonym: "Aplasia of toe" EXACT [] is_a: HP:0001991 ! Aplasia/Hypoplasia of toe property_value: HP:0040005 "Aplasia of a `toe` (FMA:25046). That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-04-23T03:58:25Z [Term] id: HP:0010761 name: Broad columella def: "Increased width of the columella." [pmid:19152422] subset: hposlim_core synonym: "Columella, broad" EXACT [] synonym: "Columella, wide" EXACT [] is_a: HP:0009929 ! Abnormality of the columella created_by: peter creation_date: 2010-04-24T11:52:54Z [Term] id: HP:0010762 name: Chordoma def: "A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." [HPO:probinson] comment: The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervetebral disks. xref: MeSH:D002817 "Chordoma" is_a: HP:0010622 ! Neoplasm of the skeletal system property_value: HP:0040005 "A chordoma is a tumors that arises from embryonic remnants of the `notochord` (FMA:85521) along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-06-25T09:00:39Z [Term] id: HP:0010763 name: Low insertion of columella def: "Insertion of the posterior columella below the nasal base." [pmid:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core synonym: "Columella, low insertion" EXACT [] is_a: HP:0009929 ! Abnormality of the columella created_by: peter creation_date: 2010-04-24T12:12:25Z [Term] id: HP:0010764 name: Short eyelashes def: "Decreased length of the eyelashes (subjective)." [HPO:probinson] comment: Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. is_a: HP:0000499 ! Abnormality of the eyelashes created_by: peter creation_date: 2010-04-24T03:31:00Z [Term] id: HP:0010765 name: Palmar hyperkeratosis def: "Hyperkeratosis affecting the palm of the hand." [HPO:probinson] is_a: HP:0000962 ! Hyperkeratosis property_value: HP:0040005 "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-04-24T03:53:19Z [Term] id: HP:0010766 name: Ectopic calcification def: "Deposition of calcium salts in a tissue or location in which calcification does not normally occur." [HPO:probinson] is_a: HP:0000924 ! Abnormality of the skeletal system created_by: doelkens creation_date: 2010-04-27T09:52:59Z [Term] id: HP:0010767 name: Sacrococcygeal pilonidal abnormality def: "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds." [HPO:probinson] is_a: HP:0005107 ! Abnormality of the sacrum created_by: sdoelken creation_date: 2010-04-29T09:45:21Z [Term] id: HP:0010769 name: Pilonidal sinus alt_id: HP:0010768 def: "A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris." [HPO:probinson] subset: hposlim_core synonym: "Pilonidal cyst" EXACT [] xref: MeSH:D010864 "Pilonidal Sinus" xref: SNOMEDCT:47639008 "Cyst - pilonidal" xref: UMLS:C0031925 "Pilonidal Cyst" is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: sdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010770 name: Pilonidal fistula xref: UMLS:C0031925 "Pilonidal Cyst" is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: sdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010771 name: Pilonidal abscess def: "A hair-containing cyst or sinus usually in the coccygeal region." [HPO:probinson] synonym: "Sacrococcygeal fistula" EXACT [] xref: UMLS:C0342988 "Pilonidal abscess" is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0100838 ! Recurrent cutaneous abscess formation created_by: sdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010772 name: Anomalous pulmonary venous return def: "A developmental defect characterized by abnormal connection of or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood." [HPO:probinson] xref: UMLS:C0036400 "ANOMALOUS PULMONARY VENOUS RETURN" is_a: HP:0011718 ! Abnormality of the pulmonary veins created_by: sdoelken creation_date: 2010-04-29T10:02:26Z [Term] id: HP:0010773 name: Partial anomalous pulmonary venous return def: "A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung." [HPO:probinson] xref: UMLS:C0158634 "Partial anomalous pulmonary venous return" is_a: HP:0010772 ! Anomalous pulmonary venous return property_value: HP:0040005 "A form of `anomalous pulmonary venous return` (HP:0010772) in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-04-29T10:03:02Z [Term] id: HP:0010774 name: Cor triatriatrum def: "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)." [DDD:dbrown, HPO:probinson] xref: ICD-10:Q24.2 is_a: HP:0005120 ! Abnormality of cardiac atrium created_by: sdoelken creation_date: 2010-04-29T10:07:24Z [Term] id: HP:0010775 name: Vascular ring def: "A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails." [HPO:probinson] synonym: "Vascular ring of aorta" EXACT [] xref: UMLS:C0221214 "Vascular ring" is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: sdoelken creation_date: 2010-04-29T10:18:47Z [Term] id: HP:0010776 name: Tracheobronchmegaly def: "Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection." [HPO:probinson] comment: Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi. is_a: HP:0010777 ! Bronchomegaly is_a: HP:0010778 ! Tracheomegaly created_by: sdoelken creation_date: 2010-04-29T10:22:55Z [Term] id: HP:0010777 name: Bronchomegaly def: "Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection." [HPO:probinson] is_a: HP:0002109 ! Abnormality of the bronchi created_by: sdoelken creation_date: 2010-04-29T10:25:22Z [Term] id: HP:0010778 name: Tracheomegaly def: "Marked widening of the trachea." [HPO:probinson] is_a: HP:0002778 ! Abnormality of the trachea created_by: sdoelken creation_date: 2010-04-29T10:28:51Z [Term] id: HP:0010779 name: Large pelvis def: "The presence of an abnormally large pelvis." [HPO:probinson] subset: hposlim_core xref: UMLS:C0230276 "Large pelvis" is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology created_by: sdoelken creation_date: 2010-04-29T11:03:39Z [Term] id: HP:0010780 name: Hyperacusis def: "Over-sensitivity to certain frequency ranges of sound." [HPO:probinson] subset: hposlim_core xref: MeSH:D012001 "Hyperacusis" xref: SNOMEDCT:25289003 "Hyperacusis" xref: UMLS:C0034880 "Hyperacusis" is_a: HP:0000364 ! Hearing abnormality created_by: doelkens creation_date: 2010-04-29T04:42:44Z [Term] id: HP:0010781 name: Skin dimples def: "Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation." [HPO:probinson] xref: UMLS:C0578531 "Skin dimple" is_a: HP:0011355 ! Localized skin lesion created_by: peter creation_date: 2010-04-30T11:34:41Z [Term] id: HP:0010782 name: Shoulder dimples def: "A subtype of skin dimples occurring in the shoulder region." [HPO:probinson] is_a: HP:0010781 ! Skin dimples property_value: HP:0040005 "A subtype of `skin dimples` (HP:0010781) occurring in the shoulder region." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-04-30T11:36:51Z [Term] id: HP:0010783 name: Erythema def: "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] subset: hposlim_core xref: MeSH:D004890 "Erythema" xref: SNOMEDCT:70819003 "Erythema" xref: UMLS:C0041834 "Erythema" is_a: HP:0011276 ! Vascular skin abnormality created_by: peter creation_date: 2010-04-30T11:40:43Z [Term] id: HP:0010784 name: Uterine neoplasm def: "A tumor (abnormal growth of tissue) of the uterus." [HPO:probinson] synonym: "Uterine neoplasia" RELATED [] xref: MeSH:D014594 "Uterine Neoplasms" xref: UMLS:C0042138 "Neoplasm, Uterine" is_a: HP:0000130 ! Abnormality of the uterus is_a: HP:0010787 ! Genital neoplasm property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `uterus` (FMA:17558)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-05-04T09:35:15Z [Term] id: HP:0010785 name: Gonadal neoplasm def: "A tumor (abnormal growth of tissue) of a gonad." [HPO:probinson] synonym: "Gonadal neoplasia" EXACT [] is_a: HP:0010787 ! Genital neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of a `gonad` (FMA:18250)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-05-04T09:44:41Z [Term] id: HP:0010786 name: Urinary tract neoplasm def: "The presence of a neoplasm of the urinary system." [HPO:probinson] synonym: "Urinary tract neoplasia" RELATED [] xref: UMLS:C0042076 "Urinary Tract Neoplasms" is_a: HP:0007379 ! Neoplasm of the genitourinary tract property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `urinary system` (FMA:7159)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-05-04T09:45:25Z [Term] id: HP:0010787 name: Genital neoplasm def: "A tumor (abnormal growth of tissue) of the genital system." [HPO:probinson] synonym: "Genital neoplasia" RELATED [] xref: UMLS:C0679347 "genital neoplasm" is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0007379 ! Neoplasm of the genitourinary tract property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `genital system` (7160)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-05-04T09:47:50Z [Term] id: HP:0010788 name: Testicular neoplasm def: "The presence of a neoplasm of the testis." [HPO:probinson] synonym: "Testicular neoplasia" RELATED [] xref: MeSH:D013736 "Testicular Neoplasms" xref: UMLS:C0039590 "Neoplasm, Testicular" is_a: HP:0000035 ! Abnormality of the testis is_a: HP:0010785 ! Gonadal neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210)." xsd:string {xref="HPO:probinson"} created_by: sdoelken creation_date: 2010-05-04T09:48:35Z [Term] id: HP:0010789 name: Abnormality of the Leydig cells is_a: HP:0000035 ! Abnormality of the testis created_by: sdoelken creation_date: 2010-05-04T09:50:45Z [Term] id: HP:0010790 name: Hyoplasia of the Leydig cells def: "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson] xref: UMLS:C0023602 "Leydig Cells" is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: sdoelken creation_date: 2010-05-04T09:51:03Z [Term] id: HP:0010791 name: Hyperplasia of the Leydig cells def: "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson] is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: sdoelken creation_date: 2010-05-04T09:51:26Z [Term] id: HP:0010793 name: Bifid nail def: "A digit with two nails, with at least some soft tissue between them." [pmid:19125433] subset: hposlim_core synonym: "duplicated nail" EXACT [] is_a: HP:0002164 ! Nail dysplasia created_by: sdoelken creation_date: 2010-05-04T10:34:02Z [Term] id: HP:0010794 name: Impaired visuospatial constructive cognition def: "Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities)." [HPO:sdoelken, pmid:10521286] comment: The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome. is_a: HP:0001328 ! Specific learning disability created_by: sandra1 creation_date: 2010-05-10T01:43:01Z [Term] id: HP:0010795 name: Cerebellar glioma def: "A glioma affecting the cerebellum." [HPO:probinson] is_a: HP:0009733 ! Glioma property_value: HP:0040005 "A `glioma` (HP:0009733) affecting the `cerebellum` (FMA:67944)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-06-25T09:08:32Z [Term] id: HP:0010796 name: Brainstem glioma def: "A glioma affecting the brainstem." [HPO:probinson] is_a: HP:0009733 ! Glioma property_value: HP:0040005 "A `glioma` (HP:0009733) affecting the `brainstem` (FMA:79876)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-06-25T09:10:45Z [Term] id: HP:0010797 name: Hemangioblastoma def: "A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter." [HPO:probinson] synonym: "Haemangioblastoma" EXACT [] xref: MeSH:D018325 "Hemangioblastoma" is_a: HP:0100835 ! Benign neoplasm of the central nervous system property_value: HP:0040005 "A `hemangioblastoma` (MPATH:238) is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-06-25T09:18:32Z [Term] id: HP:0010798 name: Lip freckle def: "Increased focal pigmentation of the vermilion of the lips." [pmid:19125428] comment: Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin. subset: hposlim_core synonym: "Labial lentigo" EXACT [] synonym: "Lip lentigo" EXACT [] xref: SNOMEDCT:239136007 "Labial lentigo" xref: UMLS:C0406814 "Labial lentigo" is_a: HP:0000159 ! Abnormality of the lip created_by: peter creation_date: 2010-06-26T01:59:19Z [Term] id: HP:0010799 name: Pinealoma def: "A neoplasm of the pineal gland." [HPO:probinson] xref: MeSH:D010871 "Pinealoma" is_a: HP:0030063 ! Neuroepithelial neoplasm is_a: HP:0100568 ! Neoplasm of the endocrine system is_a: HP:0100835 ! Benign neoplasm of the central nervous system is_a: HP:0100836 ! Malignant neoplasm of the central nervous system property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `pineal gland` (FMA:62033)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-06-25T09:27:58Z [Term] id: HP:0010800 name: Absent cupid's bow def: "Lack of paramedian peaks and median notch of the upper lip vermilion." [pmid:19125428] comment: This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately. subset: hposlim_core is_a: HP:0011339 ! Abnormality of upper lip vermillion created_by: peter creation_date: 2010-06-26T02:01:31Z [Term] id: HP:0010801 name: Underdeveloped nasolabial fold def: "Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure)." [pmid:19125428] subset: hposlim_core synonym: "Nasolabial crease, hypoplastic" EXACT [] synonym: "Nasolabial crease, underdeveloped" EXACT [] synonym: "Nasolabial fold, hypoplastic" EXACT [] is_a: HP:0005289 ! Abnormality of the nasolabial region created_by: peter creation_date: 2010-06-26T02:10:51Z [Term] id: HP:0010802 name: Perioral hyperpigmentation def: "Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips." [pmid:19125428] comment: Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately. is_a: HP:0000153 ! Abnormality of the mouth is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: peter creation_date: 2010-06-26T02:22:18Z [Term] id: HP:0010803 name: Everted upper lip vermilion def: "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip." [HPO:probinson, pmid:19125428] comment: In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately. subset: hposlim_core is_a: HP:0011339 ! Abnormality of upper lip vermillion is_a: HP:0012472 ! Eclabion property_value: HP:0040005 "Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an `everted` (PATO:0001597) `upper lip` (FMA:59817)." xsd:string {xref="HPO:probinson", xref="pmid:19125428"} created_by: peter creation_date: 2010-06-26T02:30:13Z [Term] id: HP:0010804 name: Tented upper lip vermilion alt_id: HP:0100895 def: "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428] comment: This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. subset: hposlim_core synonym: "Inverted V-shaped upper lip" EXACT [] synonym: "Tented mouth" RELATED [] synonym: "TENTED UPPER LIP" RELATED [HPO:skoehler] is_a: HP:0011339 ! Abnormality of upper lip vermillion created_by: peter creation_date: 2010-06-26T02:32:35Z [Term] id: HP:0010805 name: Upturned corners of mouth def: "Oral commissures positioned superior to the midline labial fissure." [pmid:19125428] comment: This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged. subset: hposlim_core is_a: HP:0011338 ! Abnormality of mouth shape created_by: peter creation_date: 2010-06-26T03:17:08Z [Term] id: HP:0010806 name: U-Shaped upper lip vermilion alt_id: HP:0000186 def: "Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures." [pmid:19125428] comment: The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms). synonym: "Carp-like mouth" EXACT [] synonym: "Carp-shaped mouth" EXACT [] synonym: "Large, carp-shaped mouth" EXACT [] synonym: "Wide, carp-shaped mouth" EXACT [] xref: UMLS:C1853245 "Carp-shaped mouth" is_a: HP:0011339 ! Abnormality of upper lip vermillion created_by: peter creation_date: 2010-06-26T03:25:01Z [Term] id: HP:0010807 name: Open bite def: "Visible space between the dental arches in occlusion." [pmid:19125428] comment: An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion. subset: hposlim_core xref: MeSH:D024343 "Open Bite" is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2010-07-02T09:30:43Z [Term] id: HP:0010808 name: Protruding tongue def: "Tongue extending beyond the alveolar ridges or teeth at rest." [pmid:19125428] comment: Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately. subset: hposlim_core synonym: "Tongue protrusion" EXACT [] xref: SNOMEDCT:249872000 "Protrusion of tongue" xref: UMLS:C0241442 "Protrusion of tongue" is_a: HP:0000157 ! Abnormality of the tongue created_by: peter creation_date: 2010-07-02T09:38:37Z [Term] id: HP:0010809 name: Broad uvula def: "Increased width of the uvula (subjective finding)." [pmid:19125428] comment: This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula. subset: hposlim_core synonym: "Wide uvula" EXACT [] is_a: HP:0000172 ! Abnormality of the uvula property_value: HP:0040005 "Increased width of the `uvula` (FMA:55022) (subjective finding)." xsd:string {xref="pmid:19125428"} created_by: peter creation_date: 2010-07-05T10:22:01Z [Term] id: HP:0010810 name: Long uvula def: "Increased length of the uvula." [pmid:19125428] comment: In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. subset: hposlim_core is_a: HP:0000172 ! Abnormality of the uvula property_value: HP:0040005 "Increased length of the `uvula` (FMA:55022)." xsd:string {xref="pmid:19125428"} created_by: peter creation_date: 2010-07-05T10:23:52Z [Term] id: HP:0010811 name: Narrow uvula def: "Decreased width of the uvula." [pmid:19125428] subset: hposlim_core is_a: HP:0000172 ! Abnormality of the uvula property_value: HP:0040005 "Decreased width of the `uvula` (FMA:55022)." xsd:string {xref="pmid:19125428"} created_by: peter creation_date: 2010-07-05T10:25:14Z [Term] id: HP:0010812 name: Short uvula def: "Decreased length of the uvula." [pmid:19125428] comment: Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer. synonym: "Hypoplastic uvula" EXACT [] is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula created_by: peter creation_date: 2010-07-05T10:26:47Z [Term] id: HP:0010813 name: Abnormal number of hair whorls def: "More than two clockwise hair whorls." [pmid:19125436] comment: Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise. subset: hposlim_core is_a: HP:0010721 ! Abnormal hair whorl created_by: peter creation_date: 2010-07-05T11:12:26Z [Term] id: HP:0010814 name: Abnormal position of hair whorl def: "Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull." [pmid:19125436] comment: Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls. subset: hposlim_core is_a: HP:0010721 ! Abnormal hair whorl created_by: peter creation_date: 2010-07-05T11:13:42Z [Term] id: HP:0010815 name: Nevus sebaceous def: "A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly." [HPO:probinson] synonym: "Naevus sebaceous" EXACT [] synonym: "Organoid nevus" EXACT [] synonym: "Sebaceous naevus" EXACT [] synonym: "Sebaceous nevus" EXACT [] is_a: HP:0010816 ! Epidermal nevus created_by: peter creation_date: 2010-07-10T12:07:03Z [Term] id: HP:0010816 name: Epidermal nevus def: "Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood." [HPO:probinson] comment: Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus. is_a: HP:0003764 ! Nevus created_by: peter creation_date: 2010-07-10T12:12:32Z [Term] id: HP:0010817 name: Linear nevus sebaceous def: "A type of nevus sebaceous with a linear form, raised borders and yellowish color." [HPO:probinson] is_a: HP:0010815 ! Nevus sebaceous property_value: HP:0040005 "A type of `nevus sebaceous` (HP:0010815) with a linear form, raised borders and yellowish color." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T12:17:17Z [Term] id: HP:0010818 name: Generalized tonic seizures alt_id: HP:0002184 def: "Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes." [HPO:jalbers, HPO:probinson] comment: Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started. synonym: "Hypertonic seizures" RELATED [] xref: UMLS:C1836508 "Hypertonic seizures" is_a: HP:0002197 ! Generalized seizures created_by: peter creation_date: 2010-07-10T03:03:51Z [Term] id: HP:0010819 name: Atonic seizures alt_id: HP:0002124 def: "Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground ." [HPO:jalbers, HPO:probinson] synonym: "astatic seizures" EXACT [] synonym: "drop attacks" EXACT [] synonym: "drop seizures" EXACT [] synonym: "Hypotonic seizures" RELATED [] xref: UMLS:C1836509 "Hypotonic seizures" is_a: HP:0002197 ! Generalized seizures created_by: peter creation_date: 2010-07-10T03:13:06Z [Term] id: HP:0010820 name: Dacrystic seizures def: "A type of seizure characterized by crying or an outburst of crying as a major feature." [HPO:probinson, pmid:993803] comment: The word dacrystic is derived from the Greek word dakryon (tear). is_a: HP:0011153 ! Focal motor seizures property_value: HP:0040005 "A type of `seizure` (HP:0001250) characterized by crying or an outburst of crying as a major feature." xsd:string {xref="HPO:probinson", xref="pmid:993803"} created_by: peter creation_date: 2010-07-10T03:23:32Z [Term] id: HP:0010821 name: Gelastic seizures def: "A type of seizure characterized by laughing or an outburst of laughing as a major feature." [HPO:probinson] comment: Laughter is usually lasts briefly, about 30s. Laughing can also be a component of several other kinds of seizures such as partial seizures with motor symptoms, myoclonic seizures, axial tonic seizures, flexor spasms, generalized convulsive seizures, and petit mal absences. is_a: HP:0011153 ! Focal motor seizures property_value: HP:0040005 "A type of `seizure` (HP:0001250) characterized by laughing or an outburst of laughing as a major feature." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T03:27:12Z [Term] id: HP:0010822 name: Scintillating scotoma def: "A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights." [HPO:probinson] is_a: HP:0000575 ! Scotoma created_by: peter creation_date: 2010-07-10T03:35:29Z [Term] id: HP:0010823 name: Ridged cranial sutures def: "An overlap of the bony plates of the skull in an infant, with or without early closure." [HPO:probinson] subset: hposlim_core is_a: HP:0011329 ! Abnormality of cranial sutures created_by: peter creation_date: 2010-07-10T03:46:25Z [Term] id: HP:0010824 name: Abnormality of the fifth cranial nerve def: "An abormality of the fifth cranial nerve." [HPO:probinson] synonym: "Abnormality of the nervus trigeminus" EXACT [] synonym: "Abnormality of the trigeminal nerve" EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves property_value: HP:0040005 "An abormality of the `fifth cranial nerve` (FMA:50866)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T03:51:21Z [Term] id: HP:0010825 name: Abnormality of the eleventh cranial nerve def: "Abnormality of the eleventh cranial nerve." [HPO:probinson] synonym: "Abnormality of the accessory nerve" EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves property_value: HP:0040005 "Abnormality of the `eleventh cranial nerve` (FMA:6720)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T03:54:53Z [Term] id: HP:0010826 name: Abnormality of the twelfth cranial nerve def: "Abnormality of the twelfth cranial nerve." [HPO:probinson] synonym: "Abnormality of the hypoglossal nerve" EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves property_value: HP:0040005 "Abnormality of the `twelfth cranial nerve` (FMA:50871)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T03:58:00Z [Term] id: HP:0010827 name: Abnormality of the seventh cranial nerve def: "Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve." [HPO:probinson] synonym: "Abnormality of the facial nerve" EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves property_value: HP:0040005 "Abnormality of the `seventh cranial nerve` (FMA:50868) sometimes also referred to as the facial nerve." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T04:04:55Z [Term] id: HP:0010828 name: Hemifacial spasm def: "A segmental myoclonus of muscles innervated by the facial nerve." [HPO:probinson] comment: Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus. synonym: "HEMIFACIAL SPASMS" RELATED [HPO:skoehler] xref: MeSH:D019569 "Hemifacial Spasm" is_a: HP:0003739 ! Myoclonic spasms created_by: peter creation_date: 2010-07-10T04:15:33Z [Term] id: HP:0010829 name: Impaired temperature sensation alt_id: HP:0100772 def: "A reduced ability to discriminate between different temperatures." [HPO:probinson] comment: Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C. synonym: "Abnormality of temperature sensation" EXACT [] synonym: "Loss of temperature sensation" EXACT [] is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:08:10Z [Term] id: HP:0010830 name: Impaired tactile sensation def: "A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus." [HPO:probinson] synonym: "Impaired touch sensation" EXACT [] synonym: "Loss of tactile sensation" EXACT [] is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:09:54Z [Term] id: HP:0010831 name: Impaired proprioception alt_id: HP:0010870 def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson] synonym: "Abnormality of proprioception" EXACT [] is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:12:53Z [Term] id: HP:0010832 name: Abnormality of pain sensation def: "Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain." [HPO:probinson] is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:15:58Z [Term] id: HP:0010833 name: Spontaneous pain sensation def: "Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger." [HPO:probinson] is_a: HP:0010832 ! Abnormality of pain sensation created_by: peter creation_date: 2010-07-10T07:19:19Z [Term] id: HP:0010834 name: Trophic changes related to pain def: "Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails." [HPO:probinson] synonym: "Trophic changes" EXACT [] is_a: HP:0010832 ! Abnormality of pain sensation created_by: peter creation_date: 2010-07-10T07:23:26Z [Term] id: HP:0010835 name: Dissociated sensory loss def: "A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa." [HPO:probinson] comment: Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem. is_a: HP:0003474 ! Sensory impairment created_by: peter creation_date: 2010-07-10T07:28:04Z [Term] id: HP:0010836 name: Abnormality of copper homeostasis def: "An abnormal concentration of copper." [HPO:probinson] comment: An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins. synonym: "Abnormal copper levels" RELATED [] is_a: HP:0011030 ! Abnormality of transition element cation homeostasis property_value: HP:0040005 "An `abnormal` ( PATO:0000460) `concentration` (PATO:0000033) of `copper` (CHEBI:28694)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T07:39:09Z [Term] id: HP:0010837 name: Decreased serum ceruloplasmin def: "A kind of Abnormality of copper homeostasis related to a decreased concentration of ceruloplasmin in the blood." [HPO:probinson] comment: Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism. is_a: HP:0010836 ! Abnormality of copper homeostasis property_value: HP:0040005 "A kind of `Abnormality of copper homeostasis` (HP:0010836) related to a `decreased concentration` (PATO:0001163) of `ceruloplasmin` (PR:000005794) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T07:39:36Z [Term] id: HP:0010838 name: High nonceruloplasmin-bound serum copper def: "An increased concentration of non ceruloplasmin bound copper in the blood." [HPO:probinson] is_a: HP:0010836 ! Abnormality of copper homeostasis property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of non `ceruloplasmin` (PR:000005794) bound `copper` (CHEBI:28694) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T07:43:39Z [Term] id: HP:0010839 name: Increased urinary copper concentration def: "An increased concentration of copper in the urine." [HPO:probinson] is_a: HP:0010836 ! Abnormality of copper homeostasis property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `copper` (CHEBI:28694) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-07-10T07:44:50Z [Term] id: HP:0010841 name: Multifocal epileptiform discharges def: "A abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [HPO:probinson] synonym: "Multifocal EEG abnormality" EXACT [] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: peter creation_date: 2010-07-10T08:01:28Z [Term] id: HP:0010843 name: EEG with focal slow activity def: "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)." [HPO:probinson] synonym: "EEG: focal slow activity" EXACT [] synonym: "EEG: localised slow activity" EXACT [] synonym: "EEG: localized slow activity" EXACT [] is_a: HP:0011203 ! EEG with abnormally slow frequencies created_by: peter creation_date: 2010-07-10T08:10:59Z [Term] id: HP:0010844 name: EEG with multifocal slow activity def: "Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] is_a: HP:0011203 ! EEG with abnormally slow frequencies created_by: peter creation_date: 2010-07-10T08:13:54Z [Term] id: HP:0010845 name: EEG with generalized slow activity def: "Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] comment: Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain. synonym: "EEG: generalised slow activity" EXACT [] synonym: "EEG: generalized slow activity" EXACT [] is_a: HP:0011203 ! EEG with abnormally slow frequencies created_by: peter creation_date: 2010-07-10T08:15:05Z [Term] id: HP:0010846 name: EEG with persistent abnormal rhythmic activity synonym: "EEG: persistent abnormal rhythmic activity" EXACT [] is_a: HP:0011176 ! EEG with constitutional variants created_by: peter creation_date: 2010-07-10T08:18:01Z [Term] id: HP:0010847 name: EEG with spike-wave complexes (<2.5 Hz) def: "The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG)." [HPO:probinson] comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. is_a: HP:0010850 ! EEG with spike-wave complexes created_by: peter creation_date: 2010-07-10T08:18:25Z [Term] id: HP:0010848 name: EEG with spike-wave complexes (2.5-3.5 Hz) def: "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)." [HPO:probinson] is_a: HP:0010850 ! EEG with spike-wave complexes created_by: peter creation_date: 2010-07-10T08:21:13Z [Term] id: HP:0010849 name: EEG with spike-wave complexes (>3.5 Hz) alt_id: HP:0007261 def: "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)." [HPO:probinson] synonym: "EEG with 3-4-Hz spike waves" RELATED [] is_a: HP:0010850 ! EEG with spike-wave complexes created_by: peter creation_date: 2010-07-10T08:22:40Z [Term] id: HP:0010850 name: EEG with spike-wave complexes def: "Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: peter creation_date: 2010-07-10T08:23:28Z [Term] id: HP:0010851 name: EEG with burst suppression def: "The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes." [HPO:probinson] comment: Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: peter creation_date: 2010-07-11T08:02:41Z [Term] id: HP:0010852 name: EEG with photoparoxysmal response alt_id: HP:0001330 def: "EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns." [HPO:probinson] comment: In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses. synonym: "Photoparoxysmal response on EEG" EXACT [] is_a: HP:0002353 ! EEG abnormality created_by: peter creation_date: 2010-07-11T08:10:17Z [Term] id: HP:0010853 name: EEG with periodic lateralized epileptiform discharges def: "Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds)." [HPO:probinson] comment: The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance. synonym: "EEG: periodic lateralized epileptiform discharges" EXACT [] is_a: HP:0011186 ! Focal epileptiform discharges with limited propagation to contralateral hemisphere created_by: peter creation_date: 2010-07-11T08:25:02Z [Term] id: HP:0010854 name: EEG with generalized low amplitude activity def: "An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] synonym: "EEG: generalised low amplitude activity" EXACT [] is_a: HP:0011201 ! EEG with changes in voltage created_by: peter creation_date: 2010-07-11T08:34:13Z [Term] id: HP:0010855 name: EEG with localized low amplitude activity def: "An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] synonym: "EEG: localised low amplitude activity" EXACT [] is_a: HP:0011201 ! EEG with changes in voltage created_by: peter creation_date: 2010-07-11T08:36:03Z [Term] id: HP:0010856 name: EEG with periodic complexes def: "Periodically occurring generalized periodic complexes." [HPO:jalbers] synonym: "EEG: periodic complexes" EXACT [] synonym: "Radmecker complexes" EXACT [] is_a: HP:0010857 ! EEG with periodic abnormalities created_by: peter creation_date: 2010-07-11T08:38:52Z [Term] id: HP:0010857 name: EEG with periodic abnormalities def: "Periodically recurring abnormalities in the EEG." [HPO:probinson] synonym: "EEG: periodic abnormalities" EXACT [] is_a: HP:0011200 ! EEG with generalized polymorphic epileptiform discharges created_by: peter creation_date: 2010-07-11T08:39:39Z [Term] id: HP:0010858 name: EEG with hyperventilation-induced epileptiform discharges def: "Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] comment: Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges. is_a: HP:0011182 ! Epileptiform EEG discharges created_by: peter creation_date: 2010-07-11T08:44:38Z [Term] id: HP:0010859 name: Frank breech presentation def: "A kind of breech presentation in which the hips are flexed and the knees are extended." [HPO:curators] is_a: HP:0001623 ! Breech presentation property_value: HP:0040005 "A kind of `breech presentation` (HP:0001623) in which the hips are flexed and the knees are extended." xsd:string {xref="HPO:curators"} created_by: peter creation_date: 2010-08-03T12:33:15Z [Term] id: HP:0010860 name: Complete breech presentation def: "A kind of breech presentation in which the hips are flexed and the knees are flexed." [HPO:probinson] is_a: HP:0001623 ! Breech presentation property_value: HP:0040005 "A kind of `breech presentation` (HP:0001623) in which the hips are flexed and the knees are flexed." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-08-03T12:34:30Z [Term] id: HP:0010861 name: Incomplete breech presentation def: "A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal." [HPO:probinson] is_a: HP:0001623 ! Breech presentation property_value: HP:0040005 "A kind of `breech presentation` (HP:0001623) in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-08-03T12:34:57Z [Term] id: HP:0010862 name: Delayed fine motor development def: "A type of motor delay characterized by an delay in acquiring the ability to control the fingers and hands." [HPO:probinson] is_a: HP:0001270 ! Motor delay property_value: HP:0040005 "A type of `motor delay` (HP:0001270) characterized by an delay in acquiring the ability to control the fingers and hands." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-08-03T05:44:08Z [Term] id: HP:0010863 name: Receptive language delay def: "A delay in the acquisition of the ability to understand the speech of others." [HPO:probinson] is_a: HP:0000750 ! Delayed speech and language development created_by: peter creation_date: 2010-08-03T06:02:52Z [Term] id: HP:0010864 name: Intellectual disability, severe alt_id: HP:0007196 def: "Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] comment: Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. synonym: "Early and severe mental retardation" EXACT [] synonym: "Mental retardation, severe" EXACT [] synonym: "Severe mental retardation" EXACT [] xref: UMLS:C0036857 "Severe Mental Retardation" is_a: HP:0001249 ! Intellectual disability created_by: peter creation_date: 2010-08-03T06:29:35Z [Term] id: HP:0010865 name: Oppositional defiant disorder def: "An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents." [DSM:313.81, HPO:probinson] comment: Oppositional defiant disorder is basically a persistent pattern of tantrums, arguing, and angry or disruptive behavior that goes beyond what can be considered normal. is_a: HP:0000708 ! Behavioral abnormality created_by: peter creation_date: 2010-08-03T07:09:09Z [Term] id: HP:0010866 name: Abdominal wall defect def: "An incomplete closure of the abdominal wall." [HPO:probinson] synonym: "Congenital anterior abdominal wall defect" EXACT [] is_a: HP:0004298 ! Abnormality of the abdominal wall property_value: HP:0040005 "An `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-08-03T09:55:15Z [Term] id: HP:0010867 name: Dyssynergia def: "A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts." [HPO:probinson] is_a: HP:0001251 ! Ataxia property_value: HP:0040005 "A type of `ataxia` (HP:0001251) characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-08-18T01:17:10Z [Term] id: HP:0010868 name: Ocular dyssynergia def: "A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field." [HPO:probinson] is_a: HP:0010867 ! Dyssynergia property_value: HP:0040005 "A type of `dyssynergia` (HP:0010867) affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-08-18T01:20:05Z [Term] id: HP:0010869 name: Asynergia def: "A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed." [HPO:probinson] is_a: HP:0010867 ! Dyssynergia property_value: HP:0040005 "A type of `dyssynergy` (HP:0010867) characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-08-18T01:39:38Z [Term] id: HP:0010871 name: Sensory ataxia def: "Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms." [HPO:probinson] comment: Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits. synonym: "Afferent ataxia" EXACT [] synonym: "Ataxia, sensory" EXACT [HPO:skoehler] synonym: "Spinal ataxia" EXACT [] is_a: HP:0010831 ! Impaired proprioception created_by: peter creation_date: 2010-08-18T01:57:54Z [Term] id: HP:0010872 name: EKG: T-wave inversion def: "An inversion of the T-wave (which is normally positive)." [HPO:probinson] is_a: HP:0005135 ! EKG: T-wave abnormalities created_by: peter creation_date: 2010-08-25T03:29:13Z [Term] id: HP:0010873 name: Cervical spinal cord atrophy def: "Atrophy of the cervical segment of the spinal cord." [HPO:probinson] is_a: HP:0006827 ! Atrophy of the spinal cord created_by: peter creation_date: 2010-08-25T03:41:38Z [Term] id: HP:0010874 name: Tendon xanthomatosis def: "The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows)." [HPO:probinson] synonym: "Tendon xanthomas" EXACT [] is_a: HP:0000991 ! Xanthomatosis is_a: HP:0100261 ! Abnormal tendon morphology created_by: peter creation_date: 2010-08-30T11:01:16Z [Term] id: HP:0010875 name: Chaddock reflex def: "A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract." [HPO:probinson] is_a: HP:0007256 ! Abnormal pyramidal signs created_by: peter creation_date: 2010-09-07T12:11:07Z [Term] id: HP:0010876 name: Abnormality of circulating protein level def: "An abnormal level of a circulating protein in the blood." [HPO:probinson] synonym: "Blood protein disease" RELATED [] synonym: "Serum protein abnormality" RELATED [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormal level of a circulating `protein` (CHEBI:16541) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-09-07T01:51:12Z [Term] id: HP:0010877 name: Unilateral strabismus def: "A type of strabismus in which only one eye is affected. Unilateral strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times." [HPO:probinson] is_a: HP:0000486 ! Strabismus property_value: HP:0040005 "A type of strabismus`(HP:0000486) in which only one eye is affected. Unilateral strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-09-08T10:47:57Z [Term] id: HP:0010878 name: Fetal cystic hygroma def: "The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm." [emedicine:402757, HPO:probinson] comment: Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm. is_a: HP:0000476 ! Cystic hygroma is_a: HP:0010880 ! Increased nuchal translucency created_by: peter creation_date: 2010-09-13T08:02:26Z [Term] id: HP:0010879 name: Postnatal cystic hygroma is_a: HP:0000476 ! Cystic hygroma created_by: peter creation_date: 2010-09-13T08:08:47Z [Term] id: HP:0010880 name: Increased nuchal translucency def: "The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination)." [HPO:probinson, pmid:12751779] comment: Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency. is_a: HP:0000969 ! Edema is_a: HP:0001197 ! Abnormality of prenatal development or birth created_by: peter creation_date: 2010-09-13T08:15:19Z [Term] id: HP:0010881 name: Abnormality of the umbilical cord def: "An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta." [HPO:probinson] is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord property_value: HP:0040005 "An abnormality of the `umbilical cord` (FMA:85541), which is the cord connecting the developing embryo or fetus to the placenta." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-09-13T08:24:04Z [Term] id: HP:0010882 name: Pulmonary valve atresia def: "A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop." [HPO:probinson] is_a: HP:0001641 ! Abnormality of the pulmonary valve created_by: peter creation_date: 2010-09-20T11:08:09Z [Term] id: HP:0010883 name: Aortic valve atresia def: "A congenital disorder of the aortic valve in which the orifice of the valve fails to develop." [HPO:probinson] synonym: "Aortic atresia" EXACT [] is_a: HP:0001646 ! Abnormality of the aortic valve created_by: peter creation_date: 2010-09-20T11:09:46Z [Term] id: HP:0010884 name: Acromelia def: "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs." [HPO:probinson] subset: hposlim_core is_a: HP:0009815 ! Aplasia/hypoplasia of the extremities created_by: peter creation_date: 2010-09-20T11:17:40Z [Term] id: HP:0010885 name: Aseptic necrosis def: "A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply." [HPO:sdoelken] comment: The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. synonym: "Aseptic bone necrosis" EXACT [] synonym: "Avascular necrosis" EXACT [] synonym: "Bone infarction" EXACT [] synonym: "Ischemic bone necrosis" EXACT [] synonym: "Osteochondronecrosis" EXACT [] synonym: "Osteochondrosis" EXACT [] synonym: "Osteonecrosis" EXACT [] is_a: HP:0011843 ! Abnormality of skeletal physiology created_by: sdoelken creation_date: 2010-09-24T10:11:05Z [Term] id: HP:0010886 name: Osteochondrosis dissecans def: "A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage." [HPO:sdoelken] comment: Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints. synonym: "Osteochondritis dissecans" EXACT [] xref: MeSH:D010008 is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: sdoelken creation_date: 2010-09-24T10:15:07Z [Term] id: HP:0010888 name: Morbus Koehler def: "Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis." [HPO:sdoelken] is_a: HP:0100323 ! Juvenile aseptic necrosis is_a: HP:0100339 ! Abnormality of the os naviculare pedis property_value: HP:0040005 "Morbus Koehler is a `Juvenile aseptic necrosis` (HP:0100323) affecting the Os naviculare pedis." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010889 name: Morbus Kienboeck def: "Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum." [HPO:sdoelken] comment: Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum. synonym: "Kienbock's disease" EXACT [] synonym: "Lunatomalacia" EXACT [] is_a: HP:0004248 ! Abnormality of the lunate bone is_a: HP:0100323 ! Juvenile aseptic necrosis property_value: HP:0040005 "Morbus Kienboeck is a `Juvenile aseptic necrosis` (HP:0100323) affecting the Os lunatum." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010890 name: Morbus Osgood-Schlatter def: "Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae." [HPO:sdoelken] comment: Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where tha patellar tendon inserts. synonym: "Osgood Schlatter disease" EXACT [] is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0100323 ! Juvenile aseptic necrosis property_value: HP:0040005 "Morbus Osgood-Schlatter is a `Juvenile aseptic necrosis` (HP:0100323) affecting the Tuberositas tibiae." xsd:string {xref="HPO:sdoelken"} created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010891 name: Morbus Scheuermann def: "A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays)." [HPO:sdoelken] comment: Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum. synonym: "Calve disease" EXACT [] synonym: "Juvenile Osteochondrosis of the spine" EXACT [] synonym: "Scheuermann disease" EXACT [] synonym: "Scheuermann kyphosis" EXACT [] synonym: "Sherman's Disease" EXACT [] xref: MeSH:D012544 "Scheuermann Disease" is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: sdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010892 name: Abnormality of branched chain family amino acid metabolism def: "Abnormality of a branched chain family amino acid metabolic process." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "Abnormality of a `branched chain family amino acid metabolic process` (GO:0009081)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-11-11T02:53:04Z [Term] id: HP:0010893 name: Abnormality of phenylalanine metabolism def: "An abnormality of L-phenylalanine metabolic process." [HPO:probinson] is_a: HP:0004338 ! Abnormality of aromatic amino acid family metabolism property_value: HP:0040005 "An abnormality of `L-phenylalanine metabolic process` (GO:0006558)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-11-11T03:23:30Z [Term] id: HP:0010894 name: Abnormality of serine family amino acid metabolism def: "An abnormality of a serine family amino acid metabolic process." [HPO:probinson] is_a: HP:0100508 ! Abnormality of vitamin metabolism property_value: HP:0040005 "An abnormality of a `serine family amino acid metabolic process` (GO:0009069)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-11-30T05:21:41Z [Term] id: HP:0010895 name: Abnormality of glycine metabolism def: "An abnormality of a glycine metabolic process." [HPO:gcarletti] is_a: HP:0010894 ! Abnormality of serine family amino acid metabolism property_value: HP:0040005 "An abnormality of a `glycine metabolic process` (GO:0006544)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-11-30T05:27:24Z [Term] id: HP:0010896 name: Hypersarcosinemia def: "An elevated plasma concentration of sarcosine." [HPO:gcarletti] comment: Sarcosine is the N-methyl derivative of glycine. is_a: HP:0010898 ! Abnormality of sarcosine metabolism property_value: HP:0040005 "An elevated plasma concentration of `sarcosine` (CHEBI:15611)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-11-30T05:38:24Z [Term] id: HP:0010897 name: Hypersarcosinuria def: "An elevated urinary concentration of sarcosine." [HPO:gcarletti] is_a: HP:0010898 ! Abnormality of sarcosine metabolism property_value: HP:0040005 "An elevated urinary concentration of `sarcosine` (CHEBI:15611)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-11-30T05:43:45Z [Term] id: HP:0010898 name: Abnormality of sarcosine metabolism def: "An abnormality of the metabolism of sarcosine." [HPO:probinson] is_a: HP:0010895 ! Abnormality of glycine metabolism property_value: HP:0040005 "An abnormality of the metabolism of `sarcosine` (CHEBI:15611)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-11-30T05:44:10Z [Term] id: HP:0010899 name: Abnormality of aspartate family amino acid metabolism def: "Abnormality of a aspartate family amino acid metabolic process." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "Abnormality of a `aspartate family amino acid metabolic process` (GO:0009066)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-02T04:40:57Z [Term] id: HP:0010900 name: Abnormality of threonine metabolism def: "Abnormality of a threonine metabolic process." [HPO:probinson] is_a: HP:0010899 ! Abnormality of aspartate family amino acid metabolism property_value: HP:0040005 "Abnormality of a `threonine metabolic process` (GO:0006566)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-02T04:42:19Z [Term] id: HP:0010901 name: Abnormality of methionine metabolism def: "An abnormality of methionine metabolic process." [HPO:probinson] is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism is_a: HP:0010899 ! Abnormality of aspartate family amino acid metabolism property_value: HP:0040005 "An abnormality of `methionine metabolic process` (GO:0006555)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-02T05:15:22Z [Term] id: HP:0010902 name: Abnormality of glutamine family amino acid metabolism def: "An abnormality of a glutamine family amino acid metabolic process." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "An abnormality of a `glutamine family amino acid metabolic process` (GO:0009064)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-03T04:30:22Z [Term] id: HP:0010903 name: Abnormality of glutamine metabolism def: "An abnormality of a glutamine metabolic process." [HPO:probinson] is_a: HP:0010902 ! Abnormality of glutamine family amino acid metabolism property_value: HP:0040005 "An abnormality of a `glutamine metabolic process` (GO:0006541)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-03T04:31:22Z [Term] id: HP:0010904 name: Abnormality of histidine metabolism def: "An abnormality of a histidine metabolic process." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2010-12-08T07:13:56Z [Term] id: HP:0010905 name: obsolete Abnormality of histidine metabolism def: "An abnormality of histidine metabolic process." [HPO:probinson] property_value: HP:0040005 "An abnormality of `histidine metabolic process` (GO:0006547)." xsd:string {xref="HPO:probinson"} is_obsolete: true replaced_by: HP:0010904 created_by: peter creation_date: 2010-12-08T07:15:34Z [Term] id: HP:0010906 name: Hyperhistidinemia def: "An increased concentration of histidine in the blood." [HPO:gcarletti] comment: Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter. synonym: "Histidinemia" EXACT [] is_a: HP:0010904 ! Abnormality of histidine metabolism property_value: HP:0040005 "An increased concentration of `histidine` (CHEBI:27570) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-12-08T07:27:47Z [Term] id: HP:0010907 name: Abnormality of proline metabolism def: "An abnormality of a proline metabolic process." [HPO:gcarletti] is_a: HP:0010902 ! Abnormality of glutamine family amino acid metabolism property_value: HP:0040005 "An abnormality of a `proline metabolic process` (GO:0006560)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-12-08T07:50:08Z [Term] id: HP:0010908 name: Abnormality of lysine metabolism def: "An abnormality of a lysine metabolic process." [HPO:gcarletti] is_a: HP:0010899 ! Abnormality of aspartate family amino acid metabolism property_value: HP:0040005 "An abnormality of a `lysine metabolic process` (GO:0006553)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-12-08T08:05:55Z [Term] id: HP:0010909 name: Abnormality of arginine metabolism def: "An abnormality of a arginine metabolic process." [HPO:probinson] is_a: HP:0010902 ! Abnormality of glutamine family amino acid metabolism property_value: HP:0040005 "An abnormality of a `arginine metabolic process` (GO:0006525)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-08T08:25:05Z [Term] id: HP:0010910 name: Hypervalinemia def: "An increased concentration of valine in the blood." [HPO:gcarletti] is_a: HP:0010914 ! Abnormality of valine metabolism property_value: HP:0040005 "An increased concentration of `valine` (CHEBI:27266) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-12-08T08:44:27Z [Term] id: HP:0010911 name: Hyperleucinemia def: "An increased concentration of leucine in the blood." [HPO:gcarletti] comment: Normal leucine blood levels are around 120-160 micromole per liter. is_a: HP:0004357 ! Abnormality of leucine metabolism property_value: HP:0040005 "An increased concentration of `leucine` (CHEBI:25017) in the blood." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-12-08T08:45:56Z [Term] id: HP:0010912 name: Abnormality of isoleucine metabolism def: "An abnormality of a isoleucine metabolic process." [HPO:probinson] is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism property_value: HP:0040005 "An abnormality of a `isoleucine metabolic process` (GO:0006549)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-08T08:47:47Z [Term] id: HP:0010913 name: Hyperisoleucinemia def: "An increased concentration of isoleucine in the blood." [HPO:gcarletti] comment: Normal isoleucine blood levels are around 60-80 micromole per liter. is_a: HP:0010912 ! Abnormality of isoleucine metabolism property_value: HP:0040005 "An increased concentration of `isoleucine` (CHEBI:24898) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-12-08T08:49:42Z [Term] id: HP:0010914 name: Abnormality of valine metabolism def: "An abnormality of a valine metabolic process." [HPO:probinson] is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism property_value: HP:0040005 "An abnormality of a `valine metabolic process` (GO:0006573)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-08T08:51:14Z [Term] id: HP:0010915 name: Abnormality of pyruvate family amino acid metabolism def: "An abnormality of a pyruvate family amino acid metabolic process." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "An abnormality of a `pyruvate family amino acid metabolic process` (GO:0009078)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-08T08:55:53Z [Term] id: HP:0010916 name: Abnormality of alanine metabolism def: "An abnormality of an alanine metabolic process." [HPO:gcarletti] is_a: HP:0010915 ! Abnormality of pyruvate family amino acid metabolism property_value: HP:0040005 "An abnormality of an `alanine metabolic process` (GO:0006522)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2010-12-08T08:57:53Z [Term] id: HP:0010917 name: Abnormality of tyrosine metabolism def: "An abnormality of a tyrosine metabolic process." [HPO:probinson] is_a: HP:0004338 ! Abnormality of aromatic amino acid family metabolism property_value: HP:0040005 "An abnormality of a `tyrosine metabolic process` (GO:0006570)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-08T09:13:53Z [Term] id: HP:0010918 name: Abnormality of cysteine metabolism def: "An abnormality of a cysteine metabolic process." [HPO:probinson] is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism property_value: HP:0040005 "An abnormality of a `cysteine metabolic process` (GO:0006534)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-11T11:45:39Z [Term] id: HP:0010919 name: Abnormality of homocysteine metabolism def: "An abnormality of a homocysteine metabolic process." [HPO:probinson] is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism property_value: HP:0040005 "An abnormality of a `homocysteine metabolic process` (GO:0050667)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-11T11:48:52Z [Term] id: HP:0010920 name: Zonular cataract def: "Zonular cataracts are defined to be cataracts that affect specific regions of the lens." [HPO:probinson, HPO:vkumar, pmid:18035564] comment: Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders. is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2010-12-12T12:00:37Z [Term] id: HP:0010921 name: Coralliform cataract def: "A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form." [HPO:probinson, HPO:vkumar] is_a: HP:0010920 ! Zonular cataract created_by: peter creation_date: 2010-12-12T12:16:28Z [Term] id: HP:0010922 name: Membranous cataract def: "A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens." [HPO:probinson, pmid:17539799] is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2010-12-12T12:31:45Z [Term] id: HP:0010923 name: Anterior subcapsular cataract def: "A type of cataract affecting the Anterior pole of lens immediately adjacent to ('beneath') the Lens capsule." [HPO:probinson] is_a: HP:0000523 ! Subcapsular cataract property_value: HP:0040005 "A type of cataract affecting the `Anterior pole of lens` (FMA:58897) immediately adjacent to ('beneath') the `Lens capsule` (FMA:58881)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-12T12:51:55Z [Term] id: HP:0010924 name: Posterior cortical cataract def: "A cataract that affects the posterior part of the cortex of the lens." [HPO:probinson] is_a: HP:0100019 ! Cortical cataract property_value: HP:0040005 "A `cataract` (HP:0000518) that affects the posterior part of the `cortex of the lens` (FMA:58970)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2010-12-12T12:55:36Z [Term] id: HP:0010925 name: Nuclear punctate cataract is_a: HP:0007648 ! Punctate cataract is_a: HP:0100018 ! Nuclear cataract created_by: peter creation_date: 2010-12-12T04:26:25Z [Term] id: HP:0010926 name: Aculeiform cataract def: "A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens." [HPO:probinson, pmid:9718335] comment: This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any. synonym: "Fasciculiform cataract" EXACT [] synonym: "Frosted cataract" EXACT [] synonym: "Needle-shaped cataract" EXACT [] is_a: HP:0100018 ! Nuclear cataract created_by: peter creation_date: 2010-12-19T03:47:35Z [Term] id: HP:0010927 name: Abnormality of divalent inorganic cation homeostasis def: "An abnormality of divalent inorganic cation homeostasis." [HPO:probinson] is_a: HP:0010929 ! Abnormality of cation homeostasis property_value: HP:0040005 "An abnormality of `divalent inorganic cation homeostasis` (GO:0072507)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-06T07:47:18Z [Term] id: HP:0010928 name: Abnormality of orotic acid metabolism alt_id: HP:0000810 def: "An abnormality of the metabolism of orotic acid." [HPO:probinson] comment: Note that orotic acid (and its salt orotate) are intermediates in the biosynthesis of pyramidines. is_a: HP:0004353 ! Abnormality of pyrimidine metabolism is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism property_value: HP:0040005 "An abnormality of the metabolism of `orotic acid` (CHEBI:16742)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-06T10:06:46Z [Term] id: HP:0010929 name: Abnormality of cation homeostasis def: "An abnormality of cation homeostasis." [HPO:probinson] is_a: HP:0003111 ! Abnormality of ion homeostasis property_value: HP:0040005 "An abnormality of `cation homeostasis` (GO:0055080)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-06T10:36:04Z [Term] id: HP:0010930 name: Abnormality of monovalent inorganic cation homeostasis def: "An abnormality of monovalent inorganic cation homeostasis." [HPO:probinson] is_a: HP:0010929 ! Abnormality of cation homeostasis property_value: HP:0040005 "An abnormality of `monovalent inorganic cation homeostasis` (GO:0055067)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-06T10:38:38Z [Term] id: HP:0010931 name: Abnormality of sodium homeostasis def: "An abnormal concentration of sodium." [HPO:probinson] is_a: HP:0010930 ! Abnormality of monovalent inorganic cation homeostasis property_value: HP:0040005 "An abnormal concentration of `sodium` (CHEBI:29101)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-06T10:40:20Z [Term] id: HP:0010932 name: Abnormality of nucleobase metabolism def: "An abnormality of a nucleobase metabolic process." [HPO:probinson] comment: This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. synonym: "Abnormal nucleoside levels" RELATED [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality of a `nucleobase metabolic process` (GO:0009112)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-06T10:46:17Z [Term] id: HP:0010933 name: Abnormality of xanthine metabolism def: "An abnormality of a xanthine metabolic process." [HPO:probinson] is_a: HP:0004352 ! Abnormality of purine metabolism property_value: HP:0040005 "An abnormality of a `xanthine metabolic process` (GO:0046110)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-10T07:53:26Z [Term] id: HP:0010934 name: Xanthinuria def: "An increased concentration of xanthine in the urine." [HPO:gcarletti] comment: Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality. synonym: "Increased urinary xanthine" EXACT [] is_a: HP:0010933 ! Abnormality of xanthine metabolism property_value: HP:0040005 "An increased concentration of `xanthine` (CHEBI:15318) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2011-01-10T07:55:12Z [Term] id: HP:0010935 name: Abnormality of the upper urinary tract def: "An abnormality of the upper urinary tract." [HPO:probinson] comment: The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. is_a: HP:0000079 ! Abnormality of the urinary system property_value: HP:0040005 "An abnormality of the `upper urinary tract` (FMA:45658)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T11:37:29Z [Term] id: HP:0010936 name: Abnormality of the lower urinary tract def: "An abnormality of the lower urinary tract." [HPO:probinson] comment: The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. is_a: HP:0000079 ! Abnormality of the urinary system property_value: HP:0040005 "An abnormality of the `lower urinary tract` (FMA:45659)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T11:39:17Z [Term] id: HP:0010937 name: Abnormality of the nasal skeleton def: "An abnormality of the nasal skeleton." [HPO:probinson] is_a: HP:0000366 ! Abnormality of the nose property_value: HP:0040005 "An abnormality of the `nasal skeleton` (FMA:60116)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T02:19:38Z [Term] id: HP:0010938 name: Abnormality of the external nose def: "An abnormality of the external nose." [HPO:probinson] is_a: HP:0000366 ! Abnormality of the nose property_value: HP:0040005 "An abnormality of the `external nose` (FMA:59515)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T02:21:10Z [Term] id: HP:0010939 name: Abnormality of the nasal bone def: "An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone." [HPO:probinson] is_a: HP:0010937 ! Abnormality of the nasal skeleton property_value: HP:0040005 "An abnormality of the `nasal bone` (FMA:52745), comprising the `left nasal bone` (FMA:53648) and the `right nasal bone` (FMA:53647)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T02:28:45Z [Term] id: HP:0010940 name: Aplasia/Hypoplasia of the nasal bone def: "Absence or underdevelopment of the nasal bone." [HPO:probinson] is_a: HP:0010939 ! Abnormality of the nasal bone property_value: HP:0040005 "Absence or underdevelopment of the `nasal bone` (FMA:52745)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T02:31:16Z [Term] id: HP:0010941 name: Aplasia of the nasal bone def: "Absence of the nasal bone." [HPO:probinson] is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone property_value: HP:0040005 "Absence of the `nasal bone` (FMA:52745)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T02:32:39Z [Term] id: HP:0010942 name: Echogenic intracardiac focus def: "A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart." [HPO:probinson, pmid:16100637, pmid:9527573] comment: An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF. is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-16T02:52:26Z [Term] id: HP:0010943 name: Echogenic fetal bowel def: "Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone." [HPO:probinson, pmid:16100637, pmid:20175047] comment: Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater. synonym: "Echogenic bowel" EXACT [] is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-16T03:04:36Z [Term] id: HP:0010944 name: Abnormality of the renal pelvis def: "An abnormality of the renal pelvis." [HPO:probinson] is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "An abnormality of the `renal pelvis` (FMA:15575)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T03:33:55Z [Term] id: HP:0010945 name: Fetal pyelectasis def: "Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement." [HPO:probinson, pmid:16100637] comment: The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (pmid:16100637). synonym: "Fetal renal pelvic dilatation" EXACT [] synonym: "Mild fetal hydronephrosis" EXACT [] is_a: HP:0010946 ! Dilatation of the renal pelvis is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-16T03:36:31Z [Term] id: HP:0010946 name: Dilatation of the renal pelvis def: "The presence of dilatation of the renal pelvis." [HPO:probinson] is_a: HP:0010944 ! Abnormality of the renal pelvis property_value: HP:0040005 "The presence of `dilatation` (MPATH:66) of the `renal pelvis` (FMA:15575)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-16T03:39:20Z [Term] id: HP:0010947 name: Abnormality of ductus venosus blood flow def: "An first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus." [HPO:probinson, pmid:16449256, pmid:21048453] comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave. is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2011-01-16T03:50:45Z [Term] id: HP:0010948 name: Abnormality of the fetal cardiovascular system def: "An abnormality of the fetal circulation system or fetal echocardiogram." [DDD:dbrown, HPO:probinson] synonym: "Abnormality of the fetal circulation system" EXACT [] is_a: HP:0001626 ! Abnormality of the cardiovascular system created_by: peter creation_date: 2011-01-16T03:53:44Z [Term] id: HP:0010949 name: Abnormality of umbilical vein blood flow def: "An first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein." [HPO:probinson] comment: Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus. is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system is_a: HP:0011403 ! Abnormal umbilical cord blood vessels created_by: peter creation_date: 2011-01-16T04:15:43Z [Term] id: HP:0010950 name: Abnormality of the fourth ventricle def: "An abnormality of the fourth ventricle." [HPO:probinson] comment: The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. is_a: HP:0002118 ! Abnormality of the cerebral ventricles property_value: HP:0040005 "An abnormality of the `fourth ventricle` (FMA:78469)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-17T12:58:00Z [Term] id: HP:0010951 name: Abnormality of the third ventricle def: "An abnormality of the third ventricle." [HPO:probinson] comment: The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles. is_a: HP:0002118 ! Abnormality of the cerebral ventricles property_value: HP:0040005 "An abnormality of the `third ventricle` (FMA:78454 )." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-17T01:00:31Z [Term] id: HP:0010952 name: Mild fetal ventriculomegaly def: "A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (pmid:16100637)." [HPO:probinson, pmid:16100637] comment: A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue. is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0011425 ! Fetal ultrasound soft marker property_value: HP:0040005 "A kind of `ventriculomegaly` (HP:0002119) occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (pmid:16100637)." xsd:string {xref="HPO:probinson", xref="pmid:16100637"} created_by: peter creation_date: 2011-01-17T01:36:57Z [Term] id: HP:0010953 name: Noncommunicating hydrocephalus def: "A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed." [eMedicine:1135286, HPO:probinson] comment: The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy. is_a: HP:0000238 ! Hydrocephalus property_value: HP:0040005 "A form of `hydrocephalus` (HP:0000238) in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed." xsd:string {xref="HPO:probinson", xref="eMedicine:1135286"} created_by: peter creation_date: 2011-01-17T02:22:26Z [Term] id: HP:0010954 name: Hypoplastic right heart def: "Underdevelopment of the right-sided structures of the heart." [HPO:probinson] comment: Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill. is_a: HP:0001961 ! Hypoplastic heart is_a: HP:0011723 ! Congenital malformation of the right heart created_by: peter creation_date: 2011-01-17T03:31:37Z [Term] id: HP:0010955 name: Dilatation of the bladder def: "The presence of a dilated urinary bladder." [HPO:probinson] is_a: HP:0000014 ! Abnormality of the bladder property_value: HP:0040005 "The presence of a `dilated` (PATO:0001571) `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-18T10:42:26Z [Term] id: HP:0010956 name: Fetal megacystis def: "Fetal megacystis is an abnormally enlarged bladder identified at any gestational age." [HPO:probinson, pmid:20837325] comment: Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction. is_a: HP:0010955 ! Dilatation of the bladder created_by: peter creation_date: 2011-01-18T10:43:58Z [Term] id: HP:0010957 name: Congenital posterior urethral valve def: "A developmental defect resulting in an obstructing membrane in the posterior male urethra." [eMedicine:1016086, HPO:probinson] comment: Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi). synonym: "Posterior urethral valve" EXACT [] synonym: "POSTERIOR URETHRAL VALVES" RELATED [HPO:skoehler] xref: UMLS_CUI:C0238506 is_a: HP:0010481 ! Urethral valve created_by: peter creation_date: 2011-01-18T10:51:22Z [Term] id: HP:0010958 name: Bilateral renal agenesis def: "A bilateral form of agenesis of the kidney." [HPO:probinson] is_a: HP:0000104 ! Renal agenesis property_value: HP:0040005 "A `bilateral` (PATO:0000618) form of `agenesis` (MPATH:57) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-18T11:42:58Z [Term] id: HP:0010959 name: Congenital cystic adenomatoid malformation of the lung alt_id: HP:0006540 alt_id: HP:0006545 def: "Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis." [HPO:probinson] comment: Congenital cystic adenomatoid malformation (CCAM) results in a multicystic mass that replaces the normal lung structure. CCAM is usually unilateral and confined to a single lobe of the lung. synonym: "CCAM" RELATED [] synonym: "Congenital cystic disease of the lung" EXACT [] synonym: "Cystic adenomatoid lung disease" EXACT [] xref: MeSH:D015615 "Cystic Adenomatoid Malformation of Lung, Congenital" is_a: HP:0005948 ! Cystic lung disease created_by: peter creation_date: 2011-01-18T11:56:02Z [Term] id: HP:0010960 name: Bronchopulmonary sequestration def: "The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree." [HPO:probinson, pmid:20610189] comment: Typically, the lung tissue in BPS receives all or most of its blood supply from an anomalous systemic artery, with the origin of this artery being variable. xref: MeSH:D001998 "Bronchopulmonary Sequestration" is_a: HP:0002088 ! Abnormality of the lung created_by: peter creation_date: 2011-01-18T12:28:51Z [Term] id: HP:0010961 name: Intralobar sequestration def: "A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung." [HPO:probinson, pmid:20610189] comment: Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung. is_a: HP:0010960 ! Bronchopulmonary sequestration property_value: HP:0040005 "A kind of `bronchopulmonary sequestration` that is incorporated into the normal surrounding lung." xsd:string {xref="HPO:probinson", xref="pmid:20610189"} created_by: peter creation_date: 2011-01-18T12:34:14Z [Term] id: HP:0010962 name: Extralobar sequestration def: "A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura." [HPO:probinson, pmid:20610189] comment: Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure. is_a: HP:0010960 ! Bronchopulmonary sequestration property_value: HP:0040005 "A kind of `bronchopulmonary sequestration` that is completely discrete from the normal lung and is surrounded by separate pleura." xsd:string {xref="HPO:probinson", xref="pmid:20610189"} created_by: peter creation_date: 2011-01-18T12:36:55Z [Term] id: HP:0010963 name: Absence of stomach bubble on fetal sonography def: "By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation." [HPO:probinson] comment: The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios. is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2011-01-18T12:45:41Z [Term] id: HP:0010964 name: Abnormality of long-chain fatty-acid metabolism def: "An abnormality of long-chain fatty acid metabolism." [HPO:probinson] comment: A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18. is_a: HP:0004359 ! Abnormality of fatty-acid metabolism property_value: HP:0040005 "An abnormality of `long-chain fatty acid` (CHEBI:15904) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-27T08:05:00Z [Term] id: HP:0010965 name: Abnormality of phytanic acid metabolism def: "An abnormality of phytanic acid metabolism." [HPO:probinson] comment: Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15. is_a: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism property_value: HP:0040005 "An abnormality of `phytanic acid` (CHEBI:16285) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-27T08:07:48Z [Term] id: HP:0010966 name: Abnormality of fatty-acid anion metabolism def: "An abnormality of fatty acid anion metabolism." [HPO:probinson] comment: A fatty acid anion is the conjugate base of a fatty acid. synonym: "abnormality of fatty acid anion" EXACT [] is_a: HP:0004359 ! Abnormality of fatty-acid metabolism property_value: HP:0040005 "An abnormality of `fatty acid anion` (CHEBI:28868) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-27T09:17:48Z [Term] id: HP:0010967 name: Abnormality of carnitine metabolism def: "An abnormality of carnitine metabolism." [HPO:gcarletti] comment: Carnitine is required for the transport of fatty acids from the cytosol into the mitochondria. synonym: "Carnitine levels abnormal" RELATED [] is_a: HP:0010966 ! Abnormality of fatty-acid anion metabolism property_value: HP:0040005 "An abnormality of `carnitine` (CHEBI:17126) metabolism." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2011-01-27T09:19:42Z [Term] id: HP:0010968 name: Abnormality of liposaccharide metabolism def: "An abnormality of liposaccharide metabolism." [HPO:probinson] is_a: HP:0003119 ! Abnormality of lipid metabolism property_value: HP:0040005 "An abnormality of `liposaccharide` (CHEBI:35740) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-27T09:22:56Z [Term] id: HP:0010969 name: Abnormality of glycolipid metabolism def: "An abnormality of glycolipid metabolism." [HPO:probinson] is_a: HP:0010968 ! Abnormality of liposaccharide metabolism property_value: HP:0040005 "An abnormality of `glycolipid` (CHEBI:33563) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-01-27T09:25:31Z [Term] id: HP:0010970 name: Blood group antigen abnormality def: "An abnormality of an erythrocyte cell surface molecule." [HPO:probinson] comment: During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them. is_a: HP:0001877 ! Abnormality of erythrocytes created_by: peter creation_date: 2011-02-06T12:37:33Z [Term] id: HP:0010971 name: Absence of Lutheran antigen on erythrocytes def: "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells." [HPO:probinson] is_a: HP:0010970 ! Blood group antigen abnormality created_by: peter creation_date: 2011-02-06T12:40:21Z [Term] id: HP:0010972 name: Anemia of inadequate production alt_id: HP:0005501 alt_id: HP:0005504 alt_id: HP:0005553 def: "A kind of anemia characterized by inadequate production of erythrocytes." [HPO:probinson] synonym: "Anemia, dyserythropoietic" EXACT [] synonym: "Defective erythropoiesis" EXACT [] synonym: "Dyserythropoietic anemia" EXACT [] synonym: "Ineffective erythropoiesis" EXACT [] xref: UMLS:C0392708 "Ineffective erythropoiesis" is_a: HP:0001903 ! Anemia property_value: HP:0040005 "A kind of `anemia` (HP:0001903) characterized by inadequate production of erythrocytes." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-06T02:24:54Z [Term] id: HP:0010974 name: Abnormality of myeloid leukocytes def: "An abnormality of myeloid leukocytes." [HPO:probinson] comment: A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. is_a: HP:0001881 ! Abnormality of leukocytes property_value: HP:0040005 "An abnormality of `myeloid leukocytes` (CL:0000766)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-06T09:24:46Z [Term] id: HP:0010975 name: Abnormality of B cell number def: "A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells." [HPO:probinson, MP:0002458] synonym: "Abnormal number of b cells" EXACT [HPO:skoehler] synonym: "Abnormal numbers of B cells" EXACT [HPO:skoehler] is_a: HP:0002846 ! Abnormality of B cells is_a: HP:0011893 ! Abnormal leukocyte count is_a: HP:0040088 ! Abnormal lymphocyte count property_value: HP:0040005 "A deviation from the normal count of `B cells` (CL:0000236), i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells." xsd:string {xref="HPO:probinson", xref="MP:0002458"} created_by: peter creation_date: 2011-02-06T09:38:18Z [Term] id: HP:0010976 name: B lymphocytopenia alt_id: HP:0002956 def: "An abnormal decrease from the normal count of B cells." [HPO:probinson] comment: Plasma B cells differentiate from B cells and secrete large amounts of antibodies. synonym: "Low B cell count" EXACT [] synonym: "Reduction in B cell number" EXACT [] is_a: HP:0010975 ! Abnormality of B cell number property_value: HP:0040005 "An abnormal decrease from the normal count of `B cells` (CL:0000236)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-06T09:44:11Z [Term] id: HP:0010977 name: Abnormality of phagocytes def: "An abnormality of phagocytes." [HPO:probinson] is_a: HP:0010974 ! Abnormality of myeloid leukocytes property_value: HP:0040005 "An abnormality of `phagocytes` (CL:0000518)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-06T10:31:46Z [Term] id: HP:0010978 name: Abnormality of immune system physiology def: "A functional abnormality of the immune system." [HPO:probinson, MP:0001790] is_a: HP:0002715 ! Abnormality of the immune system property_value: HP:0040005 "A functional abnormality of the `immune system` (FMA:9825)." xsd:string {xref="HPO:probinson", xref="MP:0001790"} created_by: peter creation_date: 2011-02-07T04:28:55Z [Term] id: HP:0010979 name: Abnormality of the level of lipoprotein cholesterol def: "An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood." [HPO:probinson] comment: Cholesterol esters and free cholesterol which are contained in or bound to lipoproteins. is_a: HP:0003107 ! Abnormality of cholesterol metabolism property_value: HP:0040005 "An abnormal increase or decrease in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-07T09:47:29Z [Term] id: HP:0010980 name: Hyperlipoproteinemia def: "An abnormal increase in the level of lipoprotein cholesterol in the blood." [HPO:probinson] xref: UMLS:C0020476 "Hyperlipoproteinemia" is_a: HP:0010979 ! Abnormality of the level of lipoprotein cholesterol property_value: HP:0040005 "An abnormal increase in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-07T10:56:30Z [Term] id: HP:0010981 name: Hypolipoproteinemia def: "An abnormal decrease in the level of lipoprotein cholesterol in the blood." [HPO:proteinemia] is_a: HP:0010979 ! Abnormality of the level of lipoprotein cholesterol property_value: HP:0040005 "An abnormal decrease in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670)." xsd:string {xref="HPO:proteinemia"} created_by: peter creation_date: 2011-02-07T11:01:50Z [Term] id: HP:0010982 name: Polygenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci." [HPO:probinson, ISBN:978-0192628961] is_a: HP:0001426 ! Multifactorial inheritance created_by: peter creation_date: 2011-02-08T10:12:39Z [Term] id: HP:0010983 name: Oligogenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform." [HPO:probinson, ISBN:978-0192628961] is_a: HP:0001426 ! Multifactorial inheritance created_by: peter creation_date: 2011-02-08T10:13:16Z [Term] id: HP:0010984 name: Digenic inheritance def: "A type of multifactorial inheritance governed by the simultaneous action of two gene loci." [HPO:probinson, ISBN:978-0192628961] is_a: HP:0001426 ! Multifactorial inheritance created_by: peter creation_date: 2011-02-08T10:13:54Z [Term] id: HP:0010985 name: Gonosomal inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes." [HPO:probinson] is_a: HP:0000005 ! Mode of inheritance created_by: peter creation_date: 2011-02-08T10:16:28Z [Term] id: HP:0010987 name: Abnormality of cellular immune system def: "An abnormality of the morphology or counts of the cells that make up the immune system." [HPO:probinson] is_a: HP:0002715 ! Abnormality of the immune system property_value: HP:0040005 "An abnormality of the morphology or counts of the cells that make up the `immune system` (FMA:9825)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-08T12:49:47Z [Term] id: HP:0010988 name: Abnormality of the extrinsic pathway def: "An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade." [HPO:probinson] comment: The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: HP:0040005 "An abnormality of the `extrinsic pathway` (GO:0007598) (also known as the tissue factor pathway) of the coagulation cascade." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-08T01:59:22Z [Term] id: HP:0010989 name: Abnormality of the intrinsic pathway def: "An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade." [HPO:probinson] comment: The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: HP:0040005 "An abnormality of the `intrinsic pathway` (GO:0007597) (also known as the contact activation pathway) of the coagulation cascade." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-08T04:26:55Z [Term] id: HP:0010990 name: Abnormality of the common coagulation pathway def: "An abnormality of blood coagulation, common pathway." [HPO:probinson] comment: The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: HP:0040005 "An abnormality of `blood coagulation, common pathway` (GO:0072377)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-08T04:31:53Z [Term] id: HP:0010991 name: Abnormality of the abdominal musculature def: "An abnormality of the abdominal musculature." [HPO:probinson] is_a: HP:0004298 ! Abnormality of the abdominal wall property_value: HP:0040005 "An abnormality of the `abdominal musculature` (FMA:86917)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-09T08:05:11Z [Term] id: HP:0010992 name: Stress urinary incontinence def: "In voluntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." [HPO:probinson, pmid:12559262] xref: MeSH:D014550 "Urinary Incontinence, Stress" is_a: HP:0000020 ! Urinary incontinence created_by: peter creation_date: 2011-02-09T12:13:46Z [Term] id: HP:0010993 name: Abnormality of the cerebral subcortex def: "An abnormality of the cerebral subcortex." [HPO:probinson] comment: The cerebral subcortex contains the basal ganglia and the cerebral white matter. synonym: "Abnormality of the cerebral medulla" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum property_value: HP:0040005 "An abnormality of the `cerebral subcortex` (FMA:242188)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-09T10:32:54Z [Term] id: HP:0010994 name: Abnormality of the striatum def: "Abnormality of the striatum (FMA:77618)." [HPO:probinson] comment: The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: peter creation_date: 2011-02-10T08:31:42Z [Term] id: HP:0010995 name: Abnormality of dicarboxylic acid metabolism def: "An abnormality of dicarboxylic acid metabolism." [HPO:probinson] comment: A dicarboxylic acid is an oxoacid containing two carboxy groups. is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism property_value: HP:0040005 "An abnormality of `dicarboxylic acid` (CHEBI:35692) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-10T02:01:02Z [Term] id: HP:0010996 name: Abnormality of monocarboxylic acid metabolism def: "An abnormality of monocarboxylic acid metabolism." [HPO:gcarletti] is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism property_value: HP:0040005 "An abnormality of `monocarboxylic acid` (CHEBI:25384) metabolism." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2011-02-10T02:20:42Z [Term] id: HP:0010997 name: Chromosomal breakage induced by ionizing radiation def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation." [HPO:sdoelken, pmid:16814619] comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome. synonym: "Radiation-induced chromosome instability" EXACT [] is_a: HP:0040012 ! Chromsome breakage created_by: peter creation_date: 2011-02-10T06:10:33Z [Term] id: HP:0010998 name: Increased susceptibility to spontaneous sister chromatid exchange def: "An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells." [HPO:sdoelken] comment: Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome. is_a: HP:0003220 ! Abnormality of chromosome stability created_by: peter creation_date: 2011-02-10T06:14:16Z [Term] id: HP:0010999 is_anonymous: true name: Aplasia of the optic tract is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract created_by: sdoelken creation_date: 2011-02-13T11:28:03Z [Term] id: HP:0011000 name: Aplasia/Hypoplasia of the optic tract is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: sdoelken creation_date: 2011-02-13T11:28:43Z [Term] id: HP:0011001 name: Increased bone mineral density alt_id: HP:0002796 alt_id: HP:0004350 alt_id: HP:0005711 alt_id: HP:0005741 alt_id: HP:0010738 def: "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often refered to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones." [HPO:probinson] comment: This term may be merged with Increased bone density in the future or made obsolete. synonym: "Increased bone density" EXACT [] synonym: "Osteosclerosis" EXACT [] synonym: "Osteosclerosis of bones" EXACT [] xref: MeSH:D010026 "Osteosclerosis" xref: UMLS:C1865344 "Increased bone mineral density" is_a: HP:0004348 ! Abnormality of bone mineral density created_by: sdoelken creation_date: 2011-02-13T11:57:32Z [Term] id: HP:0011002 name: Osteopetrosis def: "Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal." [HPO:probinson] synonym: "Albers-Schonberg disease" RELATED [] synonym: "Marble bone disease" RELATED [] xref: MeSH:D010022 "Osteopetrosis" is_a: HP:0011001 ! Increased bone mineral density created_by: sdoelken creation_date: 2011-02-13T11:58:36Z [Term] id: HP:0011003 name: Severe Myopia alt_id: HP:0000569 def: "A severe form of myopia with greater than -6.00 diopters." [DDD:ncarter] subset: hposlim_core synonym: "High myopia" EXACT [] synonym: "Severe myopia (> -6.00 diopters)" EXACT [] xref: UMLS:C0271183 "Severe myopia" is_a: HP:0000545 ! Myopia created_by: sdoelken creation_date: 2011-02-13T12:56:48Z [Term] id: HP:0011004 name: Abnormality of the systemic arterial tree alt_id: HP:0002620 def: "An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries." [HPO:probinson] synonym: "Arterial abnormalities" RELATED [] synonym: "Systemic artery abnormality" EXACT [] xref: UMLS:C0151489 "ARTERIAL ABNORMALITY" is_a: HP:0002597 ! Abnormality of the vasculature property_value: HP:0040005 "An abnormality of the `systemic arterial tree` (FMA:49894), which consists of the aorta and other systemic arteries." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-16T08:46:49Z [Term] id: HP:0011005 name: Mixed cirrhosis def: "A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes." [HPO:probinson] comment: In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size. is_a: HP:0001394 ! Cirrhosis property_value: HP:0040005 "A type of `cirrhosis` (HP:0001394) characterized by the presence of regenerative nodules of a variety of sizes." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-17T09:01:14Z [Term] id: HP:0011006 name: Abnormality of the musculature of the neck def: "An abnormality of the neck musculature." [HPO:probinson] is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0003011 ! Abnormality of the musculature property_value: HP:0040005 "An abnormality of the `neck musculature` (FMA:71290)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-19T11:15:01Z [Term] id: HP:0011008 name: Termporal pattern def: "The speed at which disease manifestations appear and develop." [HPO:probinson] synonym: "Speed of onset" EXACT [] is_a: HP:0012823 ! Clinical modifier created_by: peter creation_date: 2011-02-20T10:22:32Z [Term] id: HP:0011009 name: Acute def: "Sudden appearance of disease manifestations over a short period of time." [HPO:probinson] synonym: "Acute onset" EXACT [] is_a: HP:0011008 ! Termporal pattern created_by: peter creation_date: 2011-02-20T10:23:18Z [Term] id: HP:0011010 name: Chronic def: "Slow, creeping onset, slow progress and long continuance of disease manifestations." [HPO:probinson] comment: According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more. is_a: HP:0011008 ! Termporal pattern created_by: peter creation_date: 2011-02-20T10:25:55Z [Term] id: HP:0011011 name: Subacute def: "Somewhat rapid onset and change of disease manifestations." [HPO:probinson] comment: Subacute is between acute and chronic. is_a: HP:0011008 ! Termporal pattern created_by: peter creation_date: 2011-02-20T10:27:54Z [Term] id: HP:0011012 name: Abnormality of polysaccharide metabolism def: "An abnormality of the metabolism of polysaccharide." [HPO:probinson] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "An abnormality of the metabolism of `polysaccharide` (CHEBI:18154)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-21T09:46:11Z [Term] id: HP:0011013 name: Abnormality of carbohydrate metabolism/homeostasis def: "An abnormality of the metabolism/homeostasis of a carbohydrate." [HPO:probinson] comment: An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality of the metabolism/homeostasis of a `carbohydrate` (CHEBI:23008)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-21T09:47:27Z [Term] id: HP:0011014 name: Abnormal glucose homeostasis def: "Abnormality of glucose homeostasis." [HPO:probinson] comment: An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "Abnormality of `glucose homeostasis` (GO:0042593)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-21T10:37:21Z [Term] id: HP:0011015 name: Abnormality of blood glucose concentration def: "An abnormality of the concentration of glucose in the blood." [HPO:probinson] is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: HP:0040005 "An abnormality of the concentration of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-21T10:41:13Z [Term] id: HP:0011016 name: Abnormality of urine glucose concentration def: "An abnormality of the concentration of glucose in the urine." [HPO:gcarletti] is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0011014 ! Abnormal glucose homeostasis property_value: HP:0040005 "An abnormality of the concentration of `glucose` (CHEBI:17234) in the `urine` (FMA:12274)." xsd:string {xref="HPO:gcarletti"} created_by: peter creation_date: 2011-02-21T11:09:32Z [Term] id: HP:0011017 name: Abnormality of cell physiology def: "An abnormality in a cellular process." [HPO:probinson] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality in a `cellular process` (GO:0009987)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-22T07:05:50Z [Term] id: HP:0011018 name: Abnormality of the cell cycle def: "An abnormality of the cell cycle." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology property_value: HP:0040005 "An abnormality of the `cell cycle` (GO:0007049)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-22T07:09:31Z [Term] id: HP:0011019 name: Abnormality of chromosome condensation def: "An abnormality of chromosome condensation." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology property_value: HP:0040005 "An abnormality of `chromosome condensation` (GO:0030261)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-22T07:19:30Z [Term] id: HP:0011020 name: Abnormality of mucopolysaccharide metabolism def: "An abnormality of the metabolism of mucopolysaccharide." [HPO:probinson] is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism property_value: HP:0040005 "An abnormality of the metabolism of `mucopolysaccharide` (CHEBI:37395)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-23T07:58:02Z [Term] id: HP:0011021 name: Abnormality of circulating enzyme level is_a: HP:0010876 ! Abnormality of circulating protein level created_by: peter creation_date: 2011-02-28T08:46:34Z [Term] id: HP:0011022 name: Abnormality of unsaturated fatty acid metabolism def: "An abnormality of unsaturated fatty acid metabolism." [HPO:probinson] is_a: HP:0004359 ! Abnormality of fatty-acid metabolism property_value: HP:0040005 "An abnormality of `unsaturated fatty acid` (CHEBI:27208) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-28T09:04:58Z [Term] id: HP:0011023 name: Abnormality of prostaglandin metabolism def: "An abnormality of prostaglandin metabolism." [HPO:probinson] is_a: HP:0011022 ! Abnormality of unsaturated fatty acid metabolism property_value: HP:0040005 "An abnormality of `prostaglandin` (CHEBI:26333) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-02-28T09:19:20Z [Term] id: HP:0011024 name: Abnormality of the gastrointestinal tract def: "An abnormality of the gastrointestinal tract." [HPO:probinson] synonym: "Digestive system disease" RELATED [] synonym: "Gastrointestinal disease" RELATED [] is_a: HP:0002012 ! Abnormality of the abdominal organs property_value: HP:0040005 "An abnormality of the `gastrointestinal tract` (FMA:71132)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-01T07:52:06Z [Term] id: HP:0011025 name: Abnormality of cardiovascular system physiology def: "Abnormal functionality of the cardiovascular system." [HPO:probinson] is_a: HP:0001626 ! Abnormality of the cardiovascular system property_value: HP:0040005 "`Abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cardiovascular system` (FMA:7161)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-03T10:23:19Z [Term] id: HP:0011026 name: Aplasia/Hypoplasia of the vagina def: "Aplasia or developmental hypoplasia of the vagina." [HPO:probinson] is_a: HP:0000142 ! Abnormality of the vagina property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-02T06:17:46Z [Term] id: HP:0011027 name: Abnormality of the fallopian tube def: "An abnormality of the fallopian tube." [HPO:probinson] comment: The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus. is_a: HP:0000008 ! Abnormality of female internal genitalia property_value: HP:0040005 "An abnormality of the `fallopian tube` (FMA:18245)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-02T06:36:01Z [Term] id: HP:0011028 name: Abnormality of blood circulation def: "An abnormality of blood circulation." [HPO:probinson] synonym: "Blood circulation disorder" RELATED [] is_a: HP:0011025 ! Abnormality of cardiovascular system physiology property_value: HP:0040005 "An abnormality of `blood circulation` (GO:0008015)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-03T10:25:21Z [Term] id: HP:0011029 name: Internal hemorrhage def: "The presence of hemorrhage within the body." [HPO:probinson] is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011028 ! Abnormality of blood circulation property_value: HP:0040005 "The presence of `hemorrhage` (MPATH:119) within the `body` (FMA:20394)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-03T10:26:26Z [Term] id: HP:0011030 name: Abnormality of transition element cation homeostasis def: "An abnormality of the homeostasis (concentration) of transition element cation." [HPO:probinson] is_a: HP:0010929 ! Abnormality of cation homeostasis property_value: HP:0040005 "An abnormality of the homeostasis (concentration) of `transition element cation` (CHEBI:33515)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-04T07:59:31Z [Term] id: HP:0011031 name: Abnormality of iron homeostasis def: "An abnormality of the homeostasis (concentration) of iron cation." [HPO:probinson] is_a: HP:0011030 ! Abnormality of transition element cation homeostasis property_value: HP:0040005 "An abnormality of the homeostasis (concentration) of `iron cation` (CHEBI:24875)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-04T08:01:07Z [Term] id: HP:0011032 name: Abnormality of fluid regulation def: "An abnormality of the regulation of body fluids." [HPO:probinson] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "An abnormality of the `regulation of body fluids` (GO:0050878)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-05T09:09:27Z [Term] id: HP:0011033 name: Impairment of fructose metabolism def: "An impairment of a fructose metabolic process." [HPO:probinson] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "An impairment of a `fructose metabolic process` (GO:0006000)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-05T10:06:29Z [Term] id: HP:0011034 name: Amyloidosis def: "The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." [HPO:probinson, pmid:21039326] comment: The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy. xref: MeSH:D000686 "Amyloidosis" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis property_value: HP:0040005 "The presence of `amyloid deposition` (MPATH:34) in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body." xsd:string {xref="HPO:probinson", xref="pmid:21039326"} created_by: peter creation_date: 2011-03-06T10:56:39Z [Term] id: HP:0011035 name: Abnormality of the renal cortex def: "An abnormality of the cortex of the kidney." [HPO:probinson] is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "An abnormality of the `cortex of the kidney` (FMA:15581)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-06T11:31:39Z [Term] id: HP:0011036 name: Abnormality of renal excretion def: "An altered ability of the kidneys to void urine and/or specific substances." [HPO:probinson] xref: MP:0005555 is_a: HP:0012211 ! Abnormal renal physiology created_by: peter creation_date: 2011-03-06T12:28:55Z [Term] id: HP:0011037 name: Decreased urine output def: "A decreased rate of urine production." [HPO:probinson] comment: A reduction in the overall amount of urine output. is_a: HP:0012590 ! Abnormal urine output property_value: HP:0040005 "A `decreased rate` (PATO:0000911) of urine production." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-06T12:33:12Z [Term] id: HP:0011038 name: Abnormality of renal resorption def: "An abnormality of renal absorption." [HPO:probinson] is_a: HP:0012211 ! Abnormal renal physiology property_value: HP:0040005 "An abnormality of `renal absorption` (GO:0070293)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-06T12:38:04Z [Term] id: HP:0011039 name: Abnormality of the helix alt_id: HP:0000380 def: "An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe." [HPO:probinson] subset: hposlim_core synonym: "Abnormal helices" EXACT [] synonym: "Helix abnormal" EXACT [] xref: UMLS:C1856660 "Abnormal helices" is_a: HP:0000377 ! Abnormality of the pinna property_value: HP:0040005 "An abnormality of the `helix` (FMA:60992). The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-06T04:41:34Z [Term] id: HP:0011040 name: Abnormality of the intrahepatic bile duct def: "An abnormality of the intrahepatic bile duct." [HPO:probinson] is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: HP:0040005 "An abnormality of the `intrahepatic bile duct` (FMA:15766)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-07T07:54:11Z [Term] id: HP:0011041 name: Aplasia/Hypoplasia of the cervical spine def: "Aplasia or developmental hypoplasia of the cervical vertebral column." [HPO:probinson] is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column property_value: HP:0040005 "`Aplasia` (MPATH:58) or developmental hypoplasia of the `cervical vertebral column` (FMA:24138)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-09T08:29:34Z [Term] id: HP:0011042 name: Abnormality of potassium homeostasis def: "An abnormal concentration of potassium." [HPO:probinson] is_a: HP:0010930 ! Abnormality of monovalent inorganic cation homeostasis property_value: HP:0040005 "An abnormal concentration of `potassium` (CHEBI:29103)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-09T11:00:32Z [Term] id: HP:0011043 name: Abnormality of circulating adrenocorticotropin level def: "An abnormal concentration of corticotropin in the blood." [HPO:probinson] comment: Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. is_a: HP:0003117 ! Abnormality of circulating hormone level property_value: HP:0040005 "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of `corticotropin` (CHEBI:3892) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-03-10T07:46:59Z [Term] id: HP:0011044 name: Abnormal number of permanent teeth def: "The presence of an altered number of of permanent teeth." [HPO:ibailleulforestier] is_a: HP:0006483 ! Abnormal number of teeth property_value: HP:0040005 "The presence of an `altered number of`(PATO:0002083) of `permanent teeth` (FMA:55654)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T10:43:37Z [Term] id: HP:0011045 name: Agenesis of permanent maxillary central incisor def: "Agenesis of upper secondary incisor." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. is_a: HP:0006293 ! Agenesis of maxillary central incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of `upper secondary incisor` (FMA:55712)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:20:25Z [Term] id: HP:0011046 name: Agenesis of primary maxillary central incisor def: "Agenesis of upper central primary incisor." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. is_a: HP:0006293 ! Agenesis of maxillary central incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of `upper central primary incisor` (FMA:84216)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:21:41Z [Term] id: HP:0011047 name: Agenesis of primary mandibular central incisor def: "Agenesis of lower primary incisor." [HPO:ibailleulforestier] is_a: HP:0006355 ! Agenesis of mandibular central incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of `lower primary incisor` (FMA:84215)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:14:55Z [Term] id: HP:0011048 name: Agenesis of permanent mandibular central incisor def: "Agenesis of lower secondary incisor." [HPO:ibailleulforestier] is_a: HP:0006355 ! Agenesis of mandibular central incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of `lower secondary incisor` (FMA:55713)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:16:08Z [Term] id: HP:0011049 name: Agenesis of primary maxillary lateral incisor def: "Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor." [HPO:ibailleulforestier] is_a: HP:0000690 ! Agenesis of maxillary lateral incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of one or more maxillary lateral incisor, comprising the `maxillary lateral primary incisor` (FMA84217)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:31:10Z [Term] id: HP:0011050 name: Agenesis of permanent maxillary lateral incisor def: "Agenesis of one or more upper lateral secondary incisor." [HPO:ibailleulforestier] is_a: HP:0000690 ! Agenesis of maxillary lateral incisor property_value: HP:0040005 "`Agenesis` (MPATH:57) of one or more `upper lateral secondary incisor` (FMA:55724)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:32:17Z [Term] id: HP:0011051 name: Agenesis of premolar def: "Agenesis of premolar tooth." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011076 ! Abnormality of premolar property_value: HP:0040005 "`Agenesis` (MPATH:57) of `premolar tooth` (FMA:55637)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:36:44Z [Term] id: HP:0011052 name: Agenesis of maxillary premolar def: "Agenesis of maxillary premolar." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. is_a: HP:0011051 ! Agenesis of premolar property_value: HP:0040005 "`Agenesis` (MPATH:57) of `maxillary premolar` (FMA:55716)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:39:06Z [Term] id: HP:0011053 name: Agenesis of mandibular premolar def: "Agenesis of mandibular premolar." [HPO:ibailleulforestier] is_a: HP:0011051 ! Agenesis of premolar property_value: HP:0040005 "`Agenesis` (MPATH:57) of `mandibular premolar` (FMA:55717)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:40:37Z [Term] id: HP:0011054 name: Agenesis of molar def: "Agenesis of molar tooth." [HPO:ibailleulforestier] synonym: "Absent molars" EXACT [] is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011077 ! Abnormality of molar property_value: HP:0040005 "`Agenesis` (MPATH:57) of `molar tooth` (FMA:55638)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:41:46Z [Term] id: HP:0011055 name: Agenesis of permanent molar def: "Agenesis of secondary molar tooth." [HPO:ibailleulforestier] is_a: HP:0011054 ! Agenesis of molar property_value: HP:0040005 "`Agenesis` (MPATH:57) of `secondary molar tooth` (FMA:84207)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:44:27Z [Term] id: HP:0011056 name: Agenesis of first permanent molar tooth def: "Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both." [HPO:ibailleulforestier] is_a: HP:0011055 ! Agenesis of permanent molar property_value: HP:0040005 "`Agenesis` (MPATH:57) of either `maxillary first permanent molar` (FMA:55811) or `mandibular first permanent molar` (FMA:55814) or both." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:45:27Z [Term] id: HP:0011057 name: Agenesis of second permanent molar def: "Agenesis of either mandibular second permanent molar or maxillary second permanent molar." [HPO:ibailleulforestier] is_a: HP:0011055 ! Agenesis of permanent molar property_value: HP:0040005 "`Agenesis` (MPATH:57) of either `mandibular second permanent molar` (FMA:55815) or `maxillary second permanent molar` (FMA:55812)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T11:47:58Z [Term] id: HP:0011058 name: Generalized periodontitis def: "A generalized form of periodontitis." [HPO:ibailleulforestier] is_a: HP:0000704 ! Periodontitis property_value: HP:0040005 "A generalized form of `periodontitis` (HP:0000165)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T12:23:22Z [Term] id: HP:0011059 name: Localized periodontitis def: "A localized form of periodontitis." [HPO:ibailleulforestier] is_a: HP:0000704 ! Periodontitis property_value: HP:0040005 "A `localized` (PATO:0000627) form of `periodontitis` (HP:0000165)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T12:26:35Z [Term] id: HP:0011060 name: Dentinogenesis imperfecta limited to primary teeth def: "Developmental dysplasia of dentin affecting only the primary dentition." [HPO:ibailleulforestier] synonym: "Dentin dysplasia" RELATED [] is_a: HP:0000703 ! Dentinogenesis imperfecta property_value: HP:0040005 "`Developmental dysplasia` of `dentin` (FMA:55628) affecting only the `primary dentition` (FMA:55655)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T12:26:32Z [Term] id: HP:0011061 name: Abnormality of dental structure def: "An abnormality of the structure or composition of the teeth." [HPO:ibailleulforestier] is_a: HP:0000164 ! Abnormality of the teeth created_by: peter creation_date: 2011-03-10T01:44:04Z [Term] id: HP:0011062 name: Misalignment of incisors def: "Misaligned incisor." [HPO:ibailleulforestier] is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0000692 ! Misalignment of teeth property_value: HP:0040005 "`Misaligned` (PATO:0001654) `incisor` (FMA:12823)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T01:57:43Z [Term] id: HP:0011063 name: Abnormality of incisor morphology def: "An abnormality of morphology of the incisor tooth." [HPO:ibailleulforestier] is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0006482 ! Abnormality of dental morphology property_value: HP:0040005 "An abnormality of `morphology` (PATO:0000051) of the `incisor tooth` (FMA:12823)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T02:06:54Z [Term] id: HP:0011064 name: Abnormal number of incisors def: "The presence of an altered number of of the incisor teeth.." [HPO:ibailleulforestier] is_a: HP:0000676 ! Abnormality of the incisor is_a: HP:0006483 ! Abnormal number of teeth property_value: HP:0040005 "The presence of an `altered number of`(PATO:0002083) of the `incisor teeth` (FMA:12823).." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T02:09:16Z [Term] id: HP:0011065 name: Conical incisor alt_id: HP:0000673 alt_id: HP:0006345 alt_id: HP:0011066 def: "An abnormal conical morphology of the incisor tooth." [HPO:ibailleulforestier] comment: Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are. synonym: "Conoid incisor" EXACT [] synonym: "Peg-shaped incisors" EXACT [] synonym: "Pointed incisor" RELATED [] xref: UMLS:C1856136 "Peg-shaped incisors" is_a: HP:0000698 ! Conical tooth is_a: HP:0011063 ! Abnormality of incisor morphology property_value: HP:0040005 "An abnormal `conical` (PATO:0002021) morphology of the `incisor tooth` (FMA:12823)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T02:14:34Z [Term] id: HP:0011067 name: Mesiodens def: "The presence of a supernumerary tooth in the midline between the maxillary central incisors." [HPO:ibailleulforestier, pmid:18262485] comment: A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors. synonym: "Extra tooth" BROAD [] is_a: HP:0011069 ! Increased number of teeth created_by: peter creation_date: 2011-03-10T02:38:59Z [Term] id: HP:0011068 name: Odontoma def: "The presence of an odontoma." [HPO:ibailleulforestier] comment: MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma). synonym: "Odontomas" RELATED [HPO:skoehler] xref: MeSH:D009810 "Odontoma" is_a: HP:0010566 ! Hamartoma is_a: HP:0100612 ! Odontogenic neoplasm property_value: HP:0040005 "The presence of an `odontoma` (MPATH:387)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T02:40:52Z [Term] id: HP:0011069 name: Increased number of teeth alt_id: HP:0000672 def: "The presence of a supernumerary, i.e., extra, tooth or teeth." [HPO:ibailleulforestier] comment: The most frequent supernumerary tooth is a mesiodens, which occurs between the two maxillary central incisors. Often it fails to erupt, but creates a large anterior diastema, and would not be detected on physical examination (requires X-ray evaluation). This designation excludes coexistence of primary and permanent dentition due to delayed loss of the former. Note that this term does not refer to the situation in which two rows of teeth are seen at the time of eruption of permanent dentition before exfoliation of primary teeth, which can be a normal finding. subset: hposlim_core synonym: "Supernumerary teeth" EXACT [] synonym: "Supernumerary tooth" EXACT [] xref: MeSH:D014096 "Tooth, Supernumerary" xref: SNOMEDCT:266414008 "Supernumerary tooth" xref: SNOMEDCT:367534004 "Supernumerary tooth" xref: UMLS:C0040457 "Supernumerary teeth" is_a: HP:0006483 ! Abnormal number of teeth property_value: HP:0040005 "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T02:52:19Z [Term] id: HP:0011070 name: Abnormality of molar morphology def: "An abnormality of morphology of molar tooth." [HPO:ibailleulforestier] is_a: HP:0006482 ! Abnormality of dental morphology is_a: HP:0011077 ! Abnormality of molar property_value: HP:0040005 "An abnormality of `morphology` (PATO:0000051) of `molar tooth` (FMA:55638)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T03:45:51Z [Term] id: HP:0011071 name: Abnormality of permanent molar morphology def: "An abnormality of morphology of permanent molar." [HPO:ibailleulforestier] is_a: HP:0011070 ! Abnormality of molar morphology property_value: HP:0040005 "An abnormality of `morphology` (PATO:0000051) of `permanent molar` (FMA:84207)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T03:48:43Z [Term] id: HP:0011072 name: Rootless teeth is_a: HP:0006486 ! Abnormality of the dental root created_by: peter creation_date: 2011-03-10T03:56:41Z [Term] id: HP:0011073 name: Abnormality of dental color def: "A developmental defect of tooth color." [HPO:ibailleulforestier] xref: SNOMEDCT:278679009 "Tooth discolored" xref: UMLS:C0040434 "Tooth Discoloration" is_a: HP:0011061 ! Abnormality of dental structure created_by: peter creation_date: 2011-03-10T05:20:03Z [Term] id: HP:0011074 name: Localized hypoplasia of dental enamel def: "A localized form of developmental hypoplasia of the dental enamel." [HPO:ibailleulforestier] is_a: HP:0006297 ! Hypoplasia of dental enamel property_value: HP:0040005 "A `localized` (PATO:0000627) form of developmental hypoplasia of the `dental enamel` (FMA:55629)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-10T05:13:09Z [Term] id: HP:0011075 name: Green teeth def: "A green staining of teeth." [pmid:12686928] comment: Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis. is_a: HP:0011073 ! Abnormality of dental color created_by: peter creation_date: 2011-03-10T05:23:18Z [Term] id: HP:0011076 name: Abnormality of premolar def: "An abnormality of premolar tooth." [HPO:ibailleulforestier] is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "An abnormality of `premolar tooth` (FMA:55637)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T09:56:17Z [Term] id: HP:0011077 name: Abnormality of molar def: "An abnormality of molar tooth." [HPO:ibailleulforestier] is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "An abnormality of `molar tooth` (FMA:55638 )." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T09:57:49Z [Term] id: HP:0011078 name: Abnormality of canine def: "An abnormality of canine tooth." [HPO:ibailleulforestier] is_a: HP:0000164 ! Abnormality of the teeth property_value: HP:0040005 "An abnormality of `canine tooth` (FMA:55636)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T09:58:41Z [Term] id: HP:0011079 name: Impacted tooth def: "A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth)." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Retained tooth" EXACT [] xref: MeSH:D014095 "Tooth, Impacted" xref: SNOMEDCT:129263008 "Impacted tooth" xref: SNOMEDCT:235104008 "Impacted tooth" xref: UMLS:C0040456 "Impacted tooth" is_a: HP:0000706 ! Unerupted tooth created_by: peter creation_date: 2011-03-11T10:18:55Z [Term] id: HP:0011080 name: Abnormality of premolar morphology def: "An abnormality of morphology of premolar tooth." [HPO:ibailleulforestier] is_a: HP:0006482 ! Abnormality of dental morphology is_a: HP:0011076 ! Abnormality of premolar property_value: HP:0040005 "An abnormality of `morphology` (PATO:0000051) of `premolar tooth` (FMA:55637)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T10:33:42Z [Term] id: HP:0011081 name: Incisor macrodontia def: "Increased size of the incisor tooth." [HPO:ibailleulforestier] is_a: HP:0001572 ! Macrodontia is_a: HP:0011063 ! Abnormality of incisor morphology property_value: HP:0040005 "`Increased size` (PATO:0000586) of the `incisor tooth` (FMA:12823)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T10:39:44Z [Term] id: HP:0011082 name: Conical primary incisor def: "An abnormal conical morphology of the primary incisor." [HPO:ibailleulforestier] synonym: "Pointed primary incisor" RELATED [] is_a: HP:0011065 ! Conical incisor property_value: HP:0040005 "An abnormal `conical` (PATO:0002021) morphology of the primary incisor." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T11:06:57Z [Term] id: HP:0011083 name: Conical maxillary incisor def: "An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both." [HPO:ibailleulforestier] is_a: HP:0011065 ! Conical incisor property_value: HP:0040005 "An abnormal `conical` (PATO:0002021) morphology of either `maxillary primary incisor tooth` (FMA:84214) or `maxillary permanent incisor tooth` (FMA:55712) or both." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T11:36:11Z [Term] id: HP:0011084 name: Hypocalcification of dental enamel def: "A form of hypomineralization of enamel characterized by reduced calcification." [pmid:18499550] is_a: HP:0006285 ! Hypomineralization of enamel property_value: HP:0040005 "A form of `hypomineralization of enamel` (HP:0006285) characterized by reduced calcification." xsd:string {xref="pmid:18499550"} created_by: peter creation_date: 2011-03-11T12:08:46Z [Term] id: HP:0011085 name: Hypomature dental enamel def: "A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color." [HPO:ibailleulforestier] comment: Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin. is_a: HP:0006285 ! Hypomineralization of enamel property_value: HP:0040005 "A form of `hypomineralization of enamel` (HP:0006285) characterized by a chalky appearance of the enamel with orange, brown, or white color." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T12:10:33Z [Term] id: HP:0011086 name: Dentinogenesis imperfecta of primary and permanent teeth def: "Developmental dysplasia of dentin or both the primary dentition and the permanent dentition." [HPO:ibailleulforestier] is_a: HP:0000703 ! Dentinogenesis imperfecta property_value: HP:0040005 "`Developmental dysplasia` of `dentin` (FMA:55628) or both the `primary dentition` (FMA:55655) and the `permanent dentition` (FMA:55654)." xsd:string {xref="HPO:ibailleulforestier"} created_by: peter creation_date: 2011-03-11T12:28:37Z [Term] id: HP:0011087 name: Talon cusp def: "Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown)." [HPO:ibailleulforestier] subset: hposlim_core synonym: "Talon cusps" EXACT [HPO:skoehler] xref: SNOMEDCT:234955005 "Talon cusp" xref: UMLS:C0399357 "Talon cusp" is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-11T02:00:28Z [Term] id: HP:0011088 name: Dens in dente def: "An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth." [HPO:ibailleulforestier] comment: Dens in dente is Latin for tooth inside of tooth. xref: MeSH:D003719 "Dens in dente" is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-11T02:07:28Z [Term] id: HP:0011089 name: Double tooth def: "A dental anomaly characterized by the presence of a two fused teeth." [HPO:ibailleulforestier] is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter creation_date: 2011-03-11T02:13:26Z [Term] id: HP:0011090 name: Fused teeth def: "The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch." [pmid:18167487] subset: hposlim_core synonym: "Joined teeth" EXACT [] xref: MeSH:D005671 "Fused Teeth" xref: SNOMEDCT:1744008 "Fusion of teeth" xref: UMLS:C0016873 "Fused Teeth" is_a: HP:0011089 ! Double tooth created_by: peter creation_date: 2011-03-11T02:17:04Z [Term] id: HP:0011091 name: Gemination def: "The development of two teeth from a single tooth bud, leading to a larger fused tooth." [pmid:18167487] comment: If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal. is_a: HP:0011089 ! Double tooth created_by: peter creation_date: 2011-03-11T02:19:11Z [Term] id: HP:0011092 name: Mulberry molar def: "Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry." [HPO:19179952] is_a: HP:0011070 ! Abnormality of molar morphology created_by: peter creation_date: 2011-03-11T02:25:56Z [Term] id: HP:0011093 name: Molarization of premolar def: "Increased size and molar morphology of premolar tooth." [HPO:ibailleulforestier, pmid:15587104] is_a: HP:0011080 ! Abnormality of premolar morphology property_value: HP:0040005 "Increased size and molar morphology of `premolar tooth` (FMA:55637)." xsd:string {xref="HPO:ibailleulforestier", xref="pmid:15587104"} created_by: peter creation_date: 2011-03-11T02:32:39Z [Term] id: HP:0011094 name: Overbite def: "Maxillary teeth cover the mandibular teeth when biting to an increased degree." [HPO:ibailleulforestier] xref: MeSH:D057887 "Overbite" is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2011-03-11T05:13:34Z [Term] id: HP:0011095 name: Overjet def: "An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure." [HPO:ibailleulforestier] is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2011-03-11T05:15:43Z [Term] id: HP:0011096 name: Peripheral demyelination alt_id: HP:0003381 alt_id: HP:0006939 alt_id: HP:0007282 def: "A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system." [HPO:probinson] comment: This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block. synonym: "Demyelination" EXACT [] xref: UMLS:C0011304 "Demyelination" is_a: HP:0003130 ! Abnormal peripheral myelination created_by: peter creation_date: 2011-03-28T09:01:02Z [Term] id: HP:0011097 name: Epileptic spasms def: "A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure." [HPO:jalbers] comment: The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography). synonym: "Salaam convulsions" EXACT [] synonym: "Salaam seizures" EXACT [] synonym: "West syndrome" RELATED [] is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2011-05-04T01:56:31Z [Term] id: HP:0011098 name: Speech apraxia def: "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [HPO:probinson] comment: Speech apraxia may co-occur with oral apraxia and limb apraxia. synonym: "Apraxia of speech" EXACT [] synonym: "Verbal dyspraxia" EXACT [] is_a: HP:0002186 ! Apraxia created_by: peter creation_date: 2011-05-15T08:57:11Z [Term] id: HP:0011099 name: Spastic hemiparesis def: "Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes." [HPO:probinson] synonym: "Spastic hemiplegia" EXACT [] is_a: HP:0001257 ! Spasticity created_by: peter creation_date: 2011-06-04T09:10:40Z [Term] id: HP:0011100 name: Intestinal atresia def: "An abnormal closure, or atresia of the tubular structure of the intestine." [HPO:probinson] comment: Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen. xref: MeSH:D007409 "Intestinal Atresia" is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0002589 ! Gastrointestinal atresia property_value: HP:0040005 "An abnormal closure, or `atresia` (PATO:0001819) of the tubular structure of the `intestine` (FMA:7199)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-04T09:16:25Z [Term] id: HP:0011102 name: Ileal atresia def: "An abnormal closure, or atresia of the tubular structure of the ileum." [HPO:probinson] is_a: HP:0001549 ! Abnormality of the ileum is_a: HP:0011100 ! Intestinal atresia property_value: HP:0040005 "An abnormal closure, or `atresia` (PATO:0001819) of the tubular structure of the `ileum` (FMA:7208)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-04T09:22:34Z [Term] id: HP:0011103 name: Abnormality of the left ventricular outflow tract def: "An abnormality of the outflow tract of the left ventricle." [HPO:probinson] is_a: HP:0001711 ! Abnormality of the left ventricle property_value: HP:0040005 "An abnormality of the `outflow tract of the left ventricle` (FMA:9473)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-05T04:15:50Z [Term] id: HP:0011104 name: Abnormality of blood volume homeostasis def: "An abnormality in the amount of volume occupied by intravascular blood." [HPO:probinson] is_a: HP:0011028 ! Abnormality of blood circulation created_by: peter creation_date: 2011-06-07T11:16:33Z [Term] id: HP:0011105 name: Hypervolemia def: "An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] is_a: HP:0011104 ! Abnormality of blood volume homeostasis created_by: peter creation_date: 2011-06-07T11:17:32Z [Term] id: HP:0011106 name: Hypovolemia def: "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson] xref: MeSH:D020896 "Hypovolemia" is_a: HP:0011104 ! Abnormality of blood volume homeostasis created_by: peter creation_date: 2011-06-07T11:18:54Z [Term] id: HP:0011107 name: Recurrent aphthous stomatitis def: "Recurrent episodes of ulceration of the oral mucosa." [HPO:probinson] comment: Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. synonym: "Aphthous stomatitis" RELATED [] synonym: "aphthous ulcers" RELATED [] synonym: "Buccal aphthous ulcers" RELATED [] synonym: "Canker sore" RELATED [] is_a: HP:0010280 ! Stomatitis created_by: peter creation_date: 2011-06-08T07:11:09Z [Term] id: HP:0011108 name: Recurrent sinusitis def: "A recurrent form of sinusitis." [HPO:probinson] comment: Recurring inflammation of the paranasal sinuses. synonym: "Sinusitis, recurrent" EXACT [HPO:skoehler] is_a: HP:0000246 ! Sinusitis is_a: HP:0002788 ! Recurrent upper respiratory tract infections property_value: HP:0040005 "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-10T07:31:22Z [Term] id: HP:0011109 name: Chronic sinusitis def: "A chronic form of sinusitis." [HPO:probinson] synonym: "SINUSITIS, CHRONIC" RELATED [HPO:skoehler] is_a: HP:0000246 ! Sinusitis property_value: HP:0040005 "A chronic form of `sinusitis` (HP:0000246)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-10T07:33:14Z [Term] id: HP:0011110 name: Tonsillitis def: "An inflammation of the tonsils." [HPO:probinson] xref: MeSH:D014069 "Tonsillitis" xref: UMLS:C0040425 "Tonsillitis" is_a: HP:0100765 ! Abnormality of the tonsils property_value: HP:0040005 "An inflammation of the `tonsils` (FMA:9609)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-10T07:46:38Z [Term] id: HP:0011111 name: Abnormality of immune serum protein physiology def: "An abnormality of the concentration or function of circulating immune proteins." [HPO:probinson] is_a: HP:0010978 ! Abnormality of immune system physiology created_by: peter creation_date: 2011-06-12T08:58:47Z [Term] id: HP:0011112 name: Abnormality of serum cytokine level def: "Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells." [HPO:probinson] xref: MP:0010210 is_a: HP:0011111 ! Abnormality of immune serum protein physiology created_by: peter creation_date: 2011-06-12T09:03:40Z [Term] id: HP:0011113 name: Abnormality of cytokine secretion def: "An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells)." [HPO:probinson] xref: MP:0003009 is_a: HP:0011111 ! Abnormality of immune serum protein physiology created_by: peter creation_date: 2011-06-12T09:07:24Z [Term] id: HP:0011114 name: Defective production of NFKB1-dependent cytokines def: "An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha." [HPO:probinson] is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:12:15Z [Term] id: HP:0011115 name: Abnormality of chemokine secretion is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:14:25Z [Term] id: HP:0011116 name: Abnormality of interferon secretion is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:14:43Z [Term] id: HP:0011117 name: Abnormality of interleukin secretion is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:16:10Z [Term] id: HP:0011118 name: Abnormality of tumor necrosis factor secretion xref: MP:0008556 is_a: HP:0011113 ! Abnormality of cytokine secretion created_by: peter creation_date: 2011-06-12T09:16:58Z [Term] id: HP:0011119 name: Abnormality of the nasal dorsum def: "An abnormality of the nasal dorsum, also known as the nasal ridge." [HPO:probinson, pmid:19152422] comment: The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip. synonym: "Anomaly of the nasal ridge" EXACT [] is_a: HP:0010938 ! Abnormality of the external nose property_value: HP:0040005 "An abnormality of the `nasal dorsum` (FMA:59517), also known as the nasal ridge." xsd:string {xref="HPO:probinson", xref="pmid:19152422"} created_by: peter creation_date: 2011-06-12T09:37:47Z [Term] id: HP:0011120 name: Concave nasal ridge def: "Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip." [HPO:probinson, pmid:19152422] comment: A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum. subset: hposlim_core synonym: "Saddle nose" EXACT [] synonym: "SADDLE NOSE DEFORMITY" RELATED [HPO:skoehler] synonym: "Ski jump nose" EXACT [] is_a: HP:0011119 ! Abnormality of the nasal dorsum created_by: peter creation_date: 2011-06-12T09:39:55Z [Term] id: HP:0011121 name: Abnormality of skin morphology def: "Any morphological abnormality of the skin." [HPO:probinson] is_a: HP:0011354 ! Generalized abnormality of skin property_value: HP:0040005 "Any morphological abnormality of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-12T10:03:23Z [Term] id: HP:0011122 name: Abnormality of skin physiology def: "Any abnormality of the physiological function of the skin." [HPO:probinson] is_a: HP:0011354 ! Generalized abnormality of skin property_value: HP:0040005 "Any abnormality of the physiological function of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-12T10:05:14Z [Term] id: HP:0011123 name: Inflammatory abnormality of the skin alt_id: HP:0002727 alt_id: HP:0007423 def: "The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." [HPO:probinson] synonym: "Abnormal tendency to infections of the skin" EXACT [] synonym: "Inflammatory skin disease" RELATED [] synonym: "Skin inflammation" EXACT [] xref: MP:0004947 is_a: HP:0011122 ! Abnormality of skin physiology property_value: HP:0040005 "The presence of `inflammation` (MPATH:212) of the `skin` (FMA:7163). That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-12T10:06:04Z [Term] id: HP:0011124 name: Abnormality of epidermal morphology def: "An abnormality of the morphology of the epidermis." [HPO:probinson] is_a: HP:0011121 ! Abnormality of skin morphology property_value: HP:0040005 "An abnormality of the morphology of the `epidermis` (FMA:70596)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-12T10:11:28Z [Term] id: HP:0011125 name: Abnormality of dermal melanosomes def: "An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis)." [HPO:probinson] is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: peter creation_date: 2011-06-12T10:19:27Z [Term] id: HP:0011126 name: Nephroptosis def: "A significant descent of the kidney as the patient moves from the supine to the erect position." [HPO:probinson, pmid:18990154] comment: Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery. is_a: HP:0100542 ! Abnormal localization of kidney created_by: peter creation_date: 2011-06-16T07:34:25Z [Term] id: HP:0011127 name: Perioral eczema def: "A type of eczema that occurs in the lips and perioral area." [HPO:probinson] comment: Perioral eczema mainly affects children. is_a: HP:0000964 ! Eczema property_value: HP:0040005 "A type of `eczema` (HP:0000964) that occurs in the lips and perioral area." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-16T07:41:19Z [Term] id: HP:0011128 name: Acute esophageal necrosis def: "A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction." [HPO:probinson, pmid:17322991] is_a: HP:0002031 ! Abnormality of the esophagus created_by: peter creation_date: 2011-06-18T08:48:53Z [Term] id: HP:0011129 name: Bilateral fetal pyelectasis def: "A bilateral form of fetal pyelectasis." [HPO:probinson] is_a: HP:0010945 ! Fetal pyelectasis property_value: HP:0040005 "A `bilateral` (PATO:0000618) form of `fetal pyelectasis` (HP:0010945)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-19T10:00:34Z [Term] id: HP:0011130 name: Abnormality of renal calyx morphology def: "Any abnormality of the morphology of the major calices or minor calices of the kidney." [HPO:probinson] is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "Any abnormality of the morphology of the `major calices` (FMA:15613) or `minor calices` (FMA:15614) of the kidney." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-19T10:06:45Z [Term] id: HP:0011131 name: Perianal rash def: "The presence of a rash (change of color and texture) of the perianal skin." [HPO:probinson] is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2011-06-19T12:16:41Z [Term] id: HP:0011132 name: Chronic furunculosis def: "A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection." [HPO:probinson] comment: Note that a confluence of several furuncles results in a carbuncle. is_a: HP:0005406 ! Recurrent bacterial skin infections created_by: peter creation_date: 2011-06-19T10:25:47Z [Term] id: HP:0011133 name: Increased sensitivity to ionizing radiation def: "An abnormally increased sensitivity to the effects of ionizing radiation." [HPO:probinson] comment: Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions. is_a: HP:0011017 ! Abnormality of cell physiology created_by: peter creation_date: 2011-06-19T11:04:20Z [Term] id: HP:0011134 name: Low-grade fever def: "Mild fever that does not exceed 38.5 degree centrigrade." [HPO:probinson] is_a: HP:0001945 ! Fever created_by: peter creation_date: 2011-06-19T12:19:44Z [Term] id: HP:0011135 name: Aplasia/Hypoplasia of the sweat glands def: "Absence or developmental hypoplasia of the sweat glands." [HPO:probinson] is_a: HP:0000971 ! Abnormality of the sweat gland property_value: HP:0040005 "Absence or developmental hypoplasia of the `sweat glands` (FMA:59152)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-19T02:01:50Z [Term] id: HP:0011136 name: Aplasia of the sweat glands def: "Absence of the sweat glands." [HPO:probinson] synonym: "Absent sweat glands" EXACT [] synonym: "Lack of sweat glands" EXACT [] is_a: HP:0011135 ! Aplasia/Hypoplasia of the sweat glands property_value: HP:0040005 "Absence of the `sweat glands` (FMA:59152)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-06-19T02:06:44Z [Term] id: HP:0011137 name: Non-pruritic urticaria def: "Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus." [HPO:probinson] comment: Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus. is_a: HP:0011276 ! Vascular skin abnormality created_by: peter creation_date: 2011-06-19T02:17:55Z [Term] id: HP:0011138 name: Abnormality of skin adnexa def: "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [HPO:probinson] is_a: HP:0001574 ! Abnormality of the integument created_by: peter creation_date: 2011-06-19T06:25:34Z [Term] id: HP:0011139 name: Gastric duplication def: "Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach." [HPO:probinson] comment: Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood. synonym: "Gastric duplication cyst" EXACT [] is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0011140 ! Gastrointestinal duplication created_by: peter creation_date: 2011-06-25T08:57:09Z [Term] id: HP:0011140 name: Gastrointestinal duplication def: "A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus." [HPO:probinson, pmid:21218094] is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract created_by: peter creation_date: 2011-06-25T09:02:50Z [Term] id: HP:0011141 name: Age-related cataract def: "A type of cataract (opacification of the lens) that forms during the course of aging." [HPO:probinson, pmid:15708105] comment: The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker. is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2011-06-27T09:41:38Z [Term] id: HP:0011142 name: Age-related nuclear cataract def: "A type of age-related cataract that primarily affects the nucleus of the lens." [HPO:probinson, pmid:15708105] comment: As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly. is_a: HP:0011141 ! Age-related cataract created_by: peter creation_date: 2011-06-27T09:49:20Z [Term] id: HP:0011143 name: Age-related cortical cataract def: "A type of age-related cataract that primarily affects the cortex of the lens." [HPO:probinson, pmid:15708105] comment: The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature. is_a: HP:0011141 ! Age-related cataract created_by: peter creation_date: 2011-06-27T09:50:54Z [Term] id: HP:0011144 name: Age-related posterior subcapsular cataract def: "A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule." [HPO:probinson, pmid:15708105] is_a: HP:0011141 ! Age-related cataract created_by: peter creation_date: 2011-06-27T09:52:45Z [Term] id: HP:0011145 name: Symptomatic seizures def: "A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed." [pmid:18184148] comment: While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more\nepileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute\nmanifestation of the insult and may not recur when the underlying cause has been removed or the acute phase\nhas elapsed. is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2011-10-18T01:40:33Z [Term] id: HP:0011146 name: Dialeptic seizures alt_id: HP:0002278 def: "Seizures characterized by impaired consciousness." [HPO:ihelbig] comment: Recurrent seizures characterized by impaired awareness of, interaction with, or memory of ongoing events. is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2011-10-18T01:47:30Z [Term] id: HP:0011147 name: Typical absence seizures def: "Typical absences are brief for seconds generalized epileptic seizures of abrupt onset and abrupt termination with impairment of consciousness." [HPO:jalbers] comment: Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. synonym: "Petit mal seizures" EXACT [] is_a: HP:0002121 ! Absence seizures created_by: peter creation_date: 2011-10-18T01:52:22Z [Term] id: HP:0011148 name: Absence seizures with special features def: "Absence seizures that are characterized by additional motor phenomena such as eyelid myoclonias or myoclonic seizure of the upper limbs." [HPO:jalbers, pmid:20196795] comment: The term "Absence seizures with special features" is used by the International League Against Epilepsy 2010 classification. is_a: HP:0002121 ! Absence seizures created_by: peter creation_date: 2011-10-18T01:56:54Z [Term] id: HP:0011149 name: Absence seizures with eyelid myoclonia def: "Absence seizures that are additionally characterized by eyelid myoclonia." [HPO:jalbers] is_a: HP:0011148 ! Absence seizures with special features created_by: peter creation_date: 2011-10-18T02:03:21Z [Term] id: HP:0011150 name: Myoclonic absences def: "Absence seizures that are additionally characterized by rhythmic bilateral myoclonias of the arms and shoulders synchronous with EEG discharges, with additional tonic components of the arms." [HPO:ihelbig] is_a: HP:0011148 ! Absence seizures with special features created_by: peter creation_date: 2011-10-18T02:04:35Z [Term] id: HP:0011151 name: Obtundation status def: "Atypical absence lasting for more than 30 minutes." [HPO:jalbers] comment: Obtundation status is often seen in patients with Lennox-Gastaut-Syndrome. is_a: HP:0002133 ! Status epilepticus is_a: HP:0007270 ! Atypical absence seizures created_by: peter creation_date: 2011-10-18T02:09:55Z [Term] id: HP:0011152 name: Early onset absence seizures def: "Typical absence seizures starting before the age of 4 years." [HPO:ihelbig] is_a: HP:0011147 ! Typical absence seizures created_by: peter creation_date: 2011-10-18T02:12:41Z [Term] id: HP:0011153 name: Focal motor seizures def: "Focal seizures involving musculature in any form." [HPO:jalbers] comment: The motor event can consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. is_a: HP:0007359 ! Focal seizures created_by: peter creation_date: 2011-10-18T02:33:17Z [Term] id: HP:0011154 name: Focal autonomic seizures def: "Focal seizures with an objectively documented and distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregularity functions." [HPO:jalbers] is_a: HP:0007359 ! Focal seizures created_by: peter creation_date: 2011-10-18T02:23:31Z [Term] id: HP:0011155 name: Focal autonomic seizures with altered responsiveness def: "An autonomic seizure with altered responsiveness." [HPO:jalbers] is_a: HP:0011154 ! Focal autonomic seizures created_by: peter creation_date: 2011-10-18T02:24:09Z [Term] id: HP:0011156 name: Focal autonomic seizures without altered responsiveness def: "An autonomic seizure without altered responsiveness." [HPO:jalbers] is_a: HP:0011154 ! Focal autonomic seizures created_by: peter creation_date: 2011-10-18T02:24:42Z [Term] id: HP:0011157 name: Auras def: "Subjective ictal phenomena that, in a given patient, may precede observable seizures; if alone, constitute a if alone, constitute a simple partial seizure." [DDD:ssisodiya, HPO:jalbers] is_a: HP:0007359 ! Focal seizures created_by: peter creation_date: 2011-10-18T02:26:40Z [Term] id: HP:0011158 name: Auditory auras def: "Auras with sensations of buzzing, drumming sounds or single tones." [HPO:jalbers] is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:26:59Z [Term] id: HP:0011159 name: Epigastric auras def: "Auras with abdominal discomfort including nausea, emptiness, tightness, churning, butterflies, malaise, pain, and hunger; sensation may rise to chest or throat. Some phenomena may reflect ictal autonomic dysfunction." [HPO:jalbers] is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:27:58Z [Term] id: HP:0011160 name: Gustatory auras def: "Auras with taste sensations including acidic, bitter, salty , sweet or metallic tastes." [HPO:jalbers] is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:28:36Z [Term] id: HP:0011161 name: Olfactory Auras def: "Auras with sensation of odor, usually disagreeable." [HPO:jalbers] is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:28:55Z [Term] id: HP:0011162 name: Psychic auras def: "Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events." [HPO:jalbers] comment: Events may appear alone or in combination. Included are feelings of depersonalisation. These phenomena have subjective qualities similar to those experienced in life but are recognised by the subject as occurring outside of actual context. is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:29:23Z [Term] id: HP:0011163 name: Somatosensory auras def: "Auras with sensation of tingling, numbness, electric shock sensations, pain, sense of movement, or desire to move." [HPO:jalbers] is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:29:52Z [Term] id: HP:0011164 name: Vegetative auras def: "A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions." [HPO:jalbers] synonym: "Autonomic auras" EXACT [] is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:30:10Z [Term] id: HP:0011165 name: Visual auras alt_id: HP:0007175 def: "Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis." [HPO:jalbers] comment: Visual auras result from partial seizures affecting an occipital lobe in which consciousness is maintained. synonym: "Simple partial occipital seizures" EXACT [] xref: UMLS:C1850765 "Simple partial occipital seizures" is_a: HP:0011157 ! Auras created_by: peter creation_date: 2011-10-18T02:31:15Z [Term] id: HP:0011166 name: Focal myoclonic seizures is_a: HP:0011153 ! Focal motor seizures created_by: peter creation_date: 2011-10-18T02:34:14Z [Term] id: HP:0011167 name: Focal tonic seizures def: "Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes." [HPO:jalbers] is_a: HP:0011153 ! Focal motor seizures created_by: peter creation_date: 2011-10-18T02:35:03Z [Term] id: HP:0011168 name: Eyelid myoclonias def: "Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures." [HPO:ihelbig] is_a: HP:0011166 ! Focal myoclonic seizures created_by: peter creation_date: 2011-10-18T02:39:07Z [Term] id: HP:0011169 name: Generalized clonic seizures def: "Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec." [HPO:jalbers] is_a: HP:0002197 ! Generalized seizures created_by: hecht creation_date: 2011-11-19T09:53:43Z [Term] id: HP:0011170 name: Myoclonic atonic seizures def: "Seizures with sudden loss or diminution of muscle tone with a preceding myoclonic or tonic event lasting one to two seconds or more, involving head, trunk, jaw or limb musculature." [HPO:jalbers] is_a: HP:0002123 ! Generalized myoclonic seizures created_by: hecht creation_date: 2011-11-19T10:00:46Z [Term] id: HP:0011171 name: Simple febrile seizures def: "Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours." [HPO:jalbers] is_a: HP:0002373 ! Febrile seizures created_by: hecht creation_date: 2011-11-19T10:09:04Z [Term] id: HP:0011172 name: Complex febrile seizures def: "Febrile seizures with focal semiology, duration of more than 15 minutes, or occurring in a cluster of 2 or more convulsions within 24 hours." [HPO:jalbers] comment: Note that semiology refers to the clinical symptoms of an epileptic seizure. is_a: HP:0002373 ! Febrile seizures created_by: hecht creation_date: 2011-11-19T10:10:00Z [Term] id: HP:0011173 name: Hypokinetic seizures def: "Seizures with a decrease in amplitude and/or rate or arrest of ongoing motor activity." [HPO:jalbers] is_a: HP:0011153 ! Focal motor seizures created_by: hecht creation_date: 2011-11-19T10:12:04Z [Term] id: HP:0011174 name: Hyperkinetic seizures def: "Seizures with increase in rate of ongoing movements or inappropriately rapid performance of a movement involving predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrashing, rocking movements." [HPO:jalbers] is_a: HP:0011153 ! Focal motor seizures created_by: hecht creation_date: 2011-11-19T10:13:17Z [Term] id: HP:0011175 name: Versive seizures def: "Tonic seizures with a sustained, forced conjugate ocular, cephalic and/or truncal rotation or lateral deviation from the midline." [HPO:jalbers] is_a: HP:0011167 ! Focal tonic seizures created_by: hecht creation_date: 2011-11-19T10:14:54Z [Term] id: HP:0011176 name: EEG with constitutional variants def: "An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic." [HPO:jalbers] is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T10:18:43Z [Term] id: HP:0011177 name: EEG with 4-5/second background activity def: "EEG background activity at 4-5/second." [HPO:jalbers] comment: EEG background activity at 4-5/second is rare and unusual but not generally pathologic. is_a: HP:0011176 ! EEG with constitutional variants created_by: hecht creation_date: 2011-11-19T10:20:59Z [Term] id: HP:0011178 name: Alpha-EEG def: "EEG dominated by diffuse alpha-waves (8-13Hz)." [HPO:jalbers] comment: Alpha-EEG is a rare finding but not generally pathologic. is_a: HP:0011176 ! EEG with constitutional variants created_by: hecht creation_date: 2011-11-19T10:23:53Z [Term] id: HP:0011179 name: Beta-EEG def: "EEG dominated by diffuse beta-waves (>13 Hz)." [HPO:jalbers] comment: Beta-EEG is a rare finding but not generally pathologic. is_a: HP:0011176 ! EEG with constitutional variants is_a: HP:0011202 ! EEG with diffuse acceleration created_by: hecht creation_date: 2011-11-19T10:25:00Z [Term] id: HP:0011180 name: Partial beta-EEG def: "EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz)." [HPO:jalbers] comment: A partial beta-EEG is a rare finding but not generally pathologic. is_a: HP:0011179 ! Beta-EEG created_by: hecht creation_date: 2011-11-19T10:25:50Z [Term] id: HP:0011181 name: Low voltage EEG def: "EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz)." [HPO:jalbers] comment: A low voltage EEG is a rare finding but not generally pathologic. is_a: HP:0011176 ! EEG with constitutional variants created_by: hecht creation_date: 2011-11-19T10:27:20Z [Term] id: HP:0011182 name: Epileptiform EEG discharges def: "Electroencephalographic patterns that resemble epileptogenic abnormalities." [HPO:probinson] comment: Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm. is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T10:32:25Z [Term] id: HP:0011183 name: EEG with hyperventilation-induced focal epileptiform discharges def: "Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:36:34Z [Term] id: HP:0011184 name: EEG with hyperventilation-induced generalized epileptiform discharges def: "Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] is_a: HP:0010858 ! EEG with hyperventilation-induced epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:37:49Z [Term] id: HP:0011185 name: EEG with focal epileptiform discharges alt_id: HP:0010840 def: "EEG discharges recorded in particular areas of the A localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:jalbers] comment: Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing). synonym: "Focal EEG Abnormality" EXACT [] is_a: HP:0002353 ! EEG abnormality is_a: HP:0011182 ! Epileptiform EEG discharges created_by: hecht creation_date: 2011-11-19T10:39:02Z [Term] id: HP:0011186 name: Focal epileptiform discharges with limited propagation to contralateral hemisphere def: "Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:40:22Z [Term] id: HP:0011187 name: Focal EEG discharges with propagation to ipsilateral hemisphere def: "Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:43:06Z [Term] id: HP:0011188 name: Focal EEG discharges with secondary generalization def: "Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:44:33Z [Term] id: HP:0011189 name: Bilateral multifocal epileptiform discharges def: "Epileptiform discharges being identified at multiple locations in both hemispheres." [HPO:jalbers] is_a: HP:0010841 ! Multifocal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:47:23Z [Term] id: HP:0011190 name: Uni- and bilateral multifocal epileptiform discharges def: "Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere." [HPO:jalbers] is_a: HP:0010841 ! Multifocal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:48:14Z [Term] id: HP:0011191 name: Unilateral multifocal epileptiform discharges def: "Epileptiform discharges being identified at multiple locations in one hemisphere." [HPO:jalbers] is_a: HP:0010841 ! Multifocal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:48:51Z [Term] id: HP:0011192 name: Polymorphic focal epileptiform discharges def: "Focal epileptiform discharges of different shapes and frequencies." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:49:45Z [Term] id: HP:0011193 name: EEG with focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T10:50:36Z [Term] id: HP:0011194 name: EEG with series of focal spikes def: "Focal spikes occurring for several seconds." [HPO:jalbers] is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2011-11-19T10:51:41Z [Term] id: HP:0011195 name: EEG with focal sharp slow waves def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:02:29Z [Term] id: HP:0011196 name: EEG with focal sharp waves def: "EEG with focal sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:11:50Z [Term] id: HP:0011197 name: EEG with focal spike waves def: "EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:12:45Z [Term] id: HP:0011198 name: EEG with generalized epileptiform discharges alt_id: HP:0010842 def: "EEG discharges recorded on the entire scalp typically seen in persons with epilepsy." [HPO:jalbers] comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. is_a: HP:0011182 ! Epileptiform EEG discharges created_by: hecht creation_date: 2011-11-19T11:15:46Z [Term] id: HP:0011199 name: EEG with generalized sharp slow waves def: "EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:17:38Z [Term] id: HP:0011200 name: EEG with generalized polymorphic epileptiform discharges def: "Generalized epileptiform discharges of different shapes and frequencies." [HPO:jalbers] is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2011-11-19T11:19:04Z [Term] id: HP:0011201 name: EEG with changes in voltage def: "EEG with abnormal amplitude." [HPO:jalbers] is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T11:20:13Z [Term] id: HP:0011202 name: EEG with diffuse acceleration def: "EEG frequency is abnormally increased." [HPO:probinson] is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T11:23:55Z [Term] id: HP:0011203 name: EEG with abnormally slow frequencies def: "EEG with abnormally slow frequencies." [HPO:jalbers] is_a: HP:0002353 ! EEG abnormality created_by: hecht creation_date: 2011-11-19T11:26:47Z [Term] id: HP:0011204 name: EEG with continuous slow activity def: "EEG showing diffuse slowing without interruption." [HPO:jalbers] is_a: HP:0010845 ! EEG with generalized slow activity created_by: hecht creation_date: 2011-11-19T11:28:47Z [Term] id: HP:0011205 name: EEG with intermittent slow activity def: "Non-continuous diffuse slowing of electroencephalographic patterns." [HPO:jalbers] is_a: HP:0010845 ! EEG with generalized slow activity created_by: hecht creation_date: 2011-11-19T11:30:20Z [Term] id: HP:0011206 name: EEG with generalized slow activity grade 1 def: "Slowing at frequencies between 7.5 and 8.5 Hz." [HPO:jalbers] is_a: HP:0010845 ! EEG with generalized slow activity created_by: hecht creation_date: 2011-11-19T11:31:28Z [Term] id: HP:0011207 name: EEG with generalized slow activity grade 2 def: "Generalized slowing of EEG activity at frequencies between 4-7 Hz." [HPO:jalbers] is_a: HP:0010845 ! EEG with generalized slow activity created_by: peter creation_date: 2011-11-19T12:42:03Z [Term] id: HP:0011208 name: EEG with generalized slow activity grade 3 def: "Generalized slowing of EEG activity at frequencies between 0.5-3 Hz." [HPO:jalbers] is_a: HP:0010845 ! EEG with generalized slow activity created_by: peter creation_date: 2011-11-19T12:44:11Z [Term] id: HP:0011209 name: EEG with generalized slow activity grade 4 def: "EEG without electrical activity." [HPO:jalbers] synonym: "Flat line EEG" EXACT [] is_a: HP:0010845 ! EEG with generalized slow activity created_by: peter creation_date: 2011-11-19T12:46:05Z [Term] id: HP:0011210 name: EEG with occipital slowing def: "Slowing in occipital areas of the scalp EEG." [HPO:jalbers] is_a: HP:0010843 ! EEG with focal slow activity created_by: peter creation_date: 2011-11-19T12:55:32Z [Term] id: HP:0011211 name: EEG with photoparoxysmal response grade I def: "Occurrence of epileptiform discharges in occipital regions during photic stimulation." [HPO:jalbers] is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T12:59:07Z [Term] id: HP:0011212 name: EEG with photoparoxysmal response grade II def: "Occurence of epileptiform discharges in occipital and central regions during photic stimulation." [HPO:jalbers] is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T12:59:32Z [Term] id: HP:0011213 name: EEG with photoparoxysmal response grade III def: "Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation." [HPO:jalbers] is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T12:59:57Z [Term] id: HP:0011214 name: EEG with photoparoxysmal response grade IV def: "Occurrence of generalized epileptiform discharges during photic stimulation." [HPO:jalbers] is_a: HP:0010852 ! EEG with photoparoxysmal response created_by: peter creation_date: 2011-11-19T01:01:38Z [Term] id: HP:0011215 name: Hemihypsarrhythmia def: "Hypsarrhythmia occurring in one hemisphere." [HPO:jalbers] is_a: HP:0011185 ! EEG with focal epileptiform discharges created_by: peter creation_date: 2011-11-29T07:42:18Z [Term] id: HP:0011217 name: Abnormal shape of the occiput def: "An abnormal shape of occiput." [HPO:probinson] is_a: HP:0002648 ! Abnormality of calvarial morphology property_value: HP:0040005 "An `abnormal` (PATO:0000460) `shape` (PATO:0000052) of `occiput` (FMA:49187)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-12-03T10:14:06Z [Term] id: HP:0011218 name: Abnormal shape of the frontal region def: "An abnormal shape of the frontal part of the head." [HPO:probinson] is_a: HP:0002648 ! Abnormality of calvarial morphology property_value: HP:0040005 "An `abnormal` (PATO:0000460) `shape` (PATO:0000052) of the `frontal part of the head` (FMA:46448)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-12-03T10:26:03Z [Term] id: HP:0011219 name: Short face def: "Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective)." [pmid:19125436] comment: Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face. subset: hposlim_core is_a: HP:0000274 ! Small face created_by: peter creation_date: 2011-12-07T09:01:18Z [Term] id: HP:0011220 name: Prominent forehead alt_id: HP:0200061 def: "Forward prominence of the entire forehead, due to protrusion of the frontal bone." [pmid:19125436] comment: Not to be confused with frontal bossing. subset: hposlim_core synonym: "Bulging forehead" RELATED [] is_a: HP:0000290 ! Abnormality of the forehead created_by: peter creation_date: 2011-12-07T09:49:36Z [Term] id: HP:0011221 name: Vertical forehead creases def: "Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest." [pmid:19125436] subset: hposlim_core is_a: HP:0000290 ! Abnormality of the forehead created_by: peter creation_date: 2011-12-07T09:55:15Z [Term] id: HP:0011222 name: Depressed glabella def: "Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges." [HPO:probinson, pmid:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. xref: UMLS:C1860247 "Prominent glabella" is_a: HP:0002056 ! Abnormality of the glabella property_value: HP:0040005 "Posterior positioning of the `glabella` (FMA:52851), i.e., of the midline forehead between the supraorbital ridges." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} created_by: peter creation_date: 2011-12-07T10:03:30Z [Term] id: HP:0011223 name: Metopic depression def: "Linear vertical groove in the midline of the forehead, extending from hairline to glabella." [pmid:19125436] subset: hposlim_core is_a: HP:0005556 ! Abnormality of the metopic suture created_by: peter creation_date: 2011-12-07T10:34:38Z [Term] id: HP:0011224 name: Ablepharon alt_id: HP:0009925 def: "Absent eyelids." [pmid:19125427] comment: In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful. subset: hposlim_core synonym: "Ablepharon of eyelid" EXACT [] synonym: "Absent eyelids" EXACT [] synonym: "Aplasia of the eyelids" RELATED [] xref: SNOMEDCT:13401001 "Ablepharon" xref: UMLS:C0266574 "Ablepharon" is_a: HP:0011226 ! Aplasia/Hypoplasia affecting the eyelid property_value: HP:0040005 "Absent `eyelids` (FMA:75178)." xsd:string {xref="pmid:19125427"} created_by: peter creation_date: 2011-12-13T07:58:12Z [Term] id: HP:0011225 name: Epiblepharon def: "Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva." [pmid:19125427] comment: Epiblepharon should be distinguished from entropion. subset: hposlim_core is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2011-12-13T08:28:48Z [Term] id: HP:0011226 name: Aplasia/Hypoplasia affecting the eyelid def: "Absence or underdevelopment of the eyelid." [HPO:probinson] is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2011-12-13T08:38:23Z [Term] id: HP:0011227 name: Elevated C-reactive protein level def: "An abnormal elevation of the C-reactive protein level in serum." [HPO:probinson] comment: C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation. synonym: "Elevated CRP" RELATED [] is_a: HP:0010876 ! Abnormality of circulating protein level created_by: peter creation_date: 2011-12-13T11:04:10Z [Term] id: HP:0011228 name: Horizontal eyebrow def: "An eyebrow that extends straight across the brow, without curve." [pmid:19125427] subset: hposlim_core synonym: "Straight eyebrow" EXACT [] synonym: "STRAIGHT EYEBROWS" RELATED [HPO:skoehler] is_a: HP:0000534 ! Abnormality of the eyebrow created_by: peter creation_date: 2011-12-14T08:18:29Z [Term] id: HP:0011229 name: Broad eyebrow def: "Regional increase in the width (height) of the eyebrow." [pmid:19125427] comment: Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs. subset: hposlim_core synonym: "Flared eyebrow" EXACT [] synonym: "Flared eyebrows" RELATED [HPO:skoehler] is_a: HP:0000534 ! Abnormality of the eyebrow created_by: peter creation_date: 2011-12-14T08:21:26Z [Term] id: HP:0011230 name: Laterally extended eyebrow def: "An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location." [pmid:19125427] comment: The degree of extension beyond the obital rim that is considered abnormal has not been established. is_a: HP:0000534 ! Abnormality of the eyebrow created_by: peter creation_date: 2011-12-14T08:27:22Z [Term] id: HP:0011231 name: Prominent eyelashes def: "Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly." [pmid:19125427] is_a: HP:0000499 ! Abnormality of the eyelashes created_by: peter creation_date: 2011-12-14T08:31:24Z [Term] id: HP:0011232 name: Infra-orbital fold def: "Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge." [pmid:19125427] comment: This term excludes epicanthus inversus. subset: hposlim_core is_a: HP:0000315 ! Abnormality of the orbital region created_by: peter creation_date: 2011-12-14T07:00:48Z [Term] id: HP:0011233 name: Antihelical shelf def: "Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha." [pmid:19152421] comment: In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix. synonym: "Conchal shelf" EXACT [] is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-15T07:03:37Z [Term] id: HP:0011234 name: Absent antihelix def: "No discernible ridge between concha and triangular fossa and helix." [HPO:19152421] comment: This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix. is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-15T07:09:03Z [Term] id: HP:0011235 name: Additional crus of antihelix def: "Supernumerary ridge or crus of the ear arising from the antihelix." [pmid:19152421] comment: The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear. is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-15T07:16:54Z [Term] id: HP:0011236 name: Angulated antihelix def: "Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc." [pmid:19152421] is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T10:42:17Z [Term] id: HP:0011237 name: Broad inferior crus of antihelix def: "Increased width of the inferred cross-section of the inferior crus." [pmid:19152421] comment: This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile. synonym: "Antihelix, inferior crus, broad" EXACT [] is_a: HP:0011243 ! Abnormality of inferior crus of antihelix created_by: peter creation_date: 2011-12-18T10:46:34Z [Term] id: HP:0011238 name: Prominent inferior crus of antihelix def: "Increased protrusion of the inferior crus relative to the prominence of the antihelix stem." [HPO:19152421] synonym: "Antihelix, inferior crus, prominent" EXACT [] synonym: "Hyperplastic inferior crus of antihelix" EXACT [] synonym: "Hypertrophic inferior crus of antihelix" EXACT [] is_a: HP:0011243 ! Abnormality of inferior crus of antihelix created_by: peter creation_date: 2011-12-18T11:24:43Z [Term] id: HP:0011239 name: Underdeveloped inferior crus of antihelix def: "Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem." [pmid:19152421] comment: This finding is highly variable. synonym: "Antihelix, inferior crus, underdeveloped" EXACT [] synonym: "Hypoplastic inferior crus of antihelix" EXACT [] synonym: "Hypotrophic inferior crus of antihelix" EXACT [] is_a: HP:0011243 ! Abnormality of inferior crus of antihelix created_by: peter creation_date: 2011-12-18T11:27:15Z [Term] id: HP:0011240 name: Prominent stem of antihelix def: "Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix." [pmid:19152421] comment: This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear. synonym: "Hyperplastic antihelix stem" EXACT [] synonym: "Hypertrophic antihelix stem" EXACT [] is_a: HP:0011244 ! Abnormality of stem of antihelix created_by: peter creation_date: 2011-12-18T11:32:08Z [Term] id: HP:0011241 name: Serpiginous stem of antihelix def: "Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha." [pmid:19152421] synonym: "Antihelix, stem, serpiginous" EXACT [] is_a: HP:0011244 ! Abnormality of stem of antihelix created_by: peter creation_date: 2011-12-18T11:35:53Z [Term] id: HP:0011242 name: Underdeveloped stem of antihelix def: "Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix." [pmid:19152421] comment: The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear. synonym: "Antihelix, stem, underdeveloped" EXACT [] is_a: HP:0011244 ! Abnormality of stem of antihelix created_by: peter creation_date: 2011-12-18T11:38:15Z [Term] id: HP:0011243 name: Abnormality of inferior crus of antihelix def: "An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [HPO:probinson, pmid:19152421] comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. synonym: "Abnormality of anterior crus of antihelix" EXACT [] is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T11:41:44Z [Term] id: HP:0011244 name: Abnormality of stem of antihelix def: "An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura." [HPO:probinson] is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T11:50:01Z [Term] id: HP:0011245 name: Abnormality of superior crus of antihelix def: "An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa." [HPO:probinson, pmid:19152421] comment: The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix. synonym: "Abnormality of posterior crus of antihelix" EXACT [] is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2011-12-18T11:52:06Z [Term] id: HP:0011246 name: Underdeveloped superior crus of antihelix def: "Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421] comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. synonym: "Hypoplastic superior crus of antihelix" EXACT [] synonym: "Hypotrophic superior crus of antihelix" EXACT [] is_a: HP:0011245 ! Abnormality of superior crus of antihelix created_by: peter creation_date: 2011-12-18T12:00:18Z [Term] id: HP:0011247 name: Prominent superior crus of antihelix def: "Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem." [pmid:19152421] comment: This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately. synonym: "Hyperplastic superior crus of antihelix" EXACT [] synonym: "Hypertrophic superior crus of antihelix" EXACT [] is_a: HP:0011245 ! Abnormality of superior crus of antihelix created_by: peter creation_date: 2011-12-18T12:02:57Z [Term] id: HP:0011248 name: Everted antitragus def: "Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear)." [pmid:19152421] is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T12:11:37Z [Term] id: HP:0011249 name: Absent antitragus def: "Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [pmid:19152421] comment: The size of the antitragus is highly variable. is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T12:13:00Z [Term] id: HP:0011250 name: Bifid antitragus def: "Double rather than single peak of the antitragus." [pmid:19152421] synonym: "Double antitragus" EXACT [] is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T12:14:26Z [Term] id: HP:0011251 name: Underdeveloped antitragus def: "Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix." [HPO:probinson, pmid:19152421] synonym: "Hypoplastic antitragus" EXACT [] synonym: "Hypotrophic antitragus" EXACT [] synonym: "Small antitragus" EXACT [] xref: UMLS:C1968811 "Prominent antitragus" is_a: HP:0009896 ! Abnormality of the antitragus created_by: peter creation_date: 2011-12-18T01:59:04Z [Term] id: HP:0011252 name: Cryptotia def: "Invagination of the superior part of the auricle under a fold of temporal skin." [pmid:19152421] comment: There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected. subset: hposlim_core xref: SNOMEDCT:429967001 "Cryptotia" xref: UMLS:C2315717 "Cryptotia" is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2011-12-18T02:12:10Z [Term] id: HP:0011253 name: Type I cryptotia def: "A type of cryptotia associated with reduction in size of the antihelix and superior crus." [HPO:probinson] is_a: HP:0011252 ! Cryptotia created_by: peter creation_date: 2011-12-18T02:14:49Z [Term] id: HP:0011254 name: Type II cryptotia def: "A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected." [HPO:probinson] is_a: HP:0011252 ! Cryptotia created_by: peter creation_date: 2011-12-18T02:15:48Z [Term] id: HP:0011255 name: Absent crus of helix def: "Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha." [pmid:19152421] synonym: "Helix, crus, absent" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:50:59Z [Term] id: HP:0011256 name: Crus of helix connected to antihelix def: "Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix." [pmid:19152421] synonym: "Helix, crus, connected to antihelix" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:51:54Z [Term] id: HP:0011257 name: Serpiginous crus of helix def: "Curving course of the crus of the helix, approaching or joining the antitragus." [pmid:19152421] synonym: "Helix, crus, serpiginous" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:56:25Z [Term] id: HP:0011258 name: Tragal bridge of crus of helix def: "The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix." [pmid:19152421] synonym: "Helix, crus, tragal bridge" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T05:58:24Z [Term] id: HP:0011259 name: Expanded terminal portion of crus of helix def: "Widening, rather than tapering, of the crus at its posterior border near the antihelix." [pmid:19152421] synonym: "Helix, crus, expanded terminal portion" EXACT [] is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2011-12-18T06:00:07Z [Term] id: HP:0011260 name: Darwin notch of helix def: "Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix." [pmid:19152421] synonym: "Helix, Darwin notch" EXACT [] is_a: HP:0009902 ! Cleft helix created_by: peter creation_date: 2011-12-18T06:01:45Z [Term] id: HP:0011261 name: Darwin tubercle of helix def: "Small expansion of the helical fold at the junction of the superior and descending portions of the helix." [pmid:19152421] synonym: "Helix, Darwin tubercle" EXACT [] is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2011-12-18T06:02:42Z [Term] id: HP:0011262 name: Crimped helix def: "Linear, circumferential indentation in the convexity of the outer surface of the helix." [pmid:19152421] comment: The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix. synonym: "Helix, crimped" EXACT [] synonym: "Indented helix" EXACT [] is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2011-12-18T06:19:33Z [Term] id: HP:0011263 name: Forward facing earlobe def: "Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear." [HPO:probinson, pmid:19152421] comment: The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe. synonym: "Lobe, forward facing" EXACT [] xref: UMLS:C1856117 "Fleshy upturned lobules" is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2011-12-18T06:50:34Z [Term] id: HP:0011264 name: Discontinuous ascending root of helix def: "Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid." [pmid:19152421] synonym: "Helix, discontinuous ascending root" EXACT [] is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2011-12-18T07:31:00Z [Term] id: HP:0011265 name: Cleft earlobe def: "Discontinuity in the convexity of the inferior margin of the lobe." [pmid:19152421] comment: The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished. subset: hposlim_core is_a: HP:0000363 ! Abnormality of earlobe created_by: peter creation_date: 2011-12-18T07:39:52Z [Term] id: HP:0011266 name: Microtia, first degree alt_id: HP:0000379 def: "Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean." [pmid:19152421] synonym: "First-degree microtia" EXACT [] is_a: HP:0008551 ! Microtia created_by: peter creation_date: 2011-12-18T07:44:51Z [Term] id: HP:0011267 name: Microtia, third degree def: "Presence of some auricular structures, but none of these structures conform to recognized ear components." [pmid:19152421] comment: This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia. synonym: "Third-degree microtia" EXACT [] is_a: HP:0008551 ! Microtia created_by: peter creation_date: 2011-12-18T07:49:49Z [Term] id: HP:0011268 name: Absent tragus def: "Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix." [pmid:19152421] comment: This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately. subset: hposlim_core is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus created_by: peter creation_date: 2011-12-18T07:55:39Z [Term] id: HP:0011269 name: Bifid tragus def: "Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak." [pmid:19152421] synonym: "Hyperplastic tragus" EXACT [] synonym: "Hypertrophic tragus" EXACT [] synonym: "Notched tragus" EXACT [] synonym: "Tragus, bifid" EXACT [] is_a: HP:0009912 ! Abnormality of the tragus created_by: peter creation_date: 2011-12-18T07:56:56Z [Term] id: HP:0011270 name: Duplicated tragus def: "A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus." [pmid:19152421] comment: It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin. synonym: "Accesory tragus" EXACT [] synonym: "Tragus, duplicated" EXACT [] is_a: HP:0009912 ! Abnormality of the tragus created_by: peter creation_date: 2011-12-18T07:58:04Z [Term] id: HP:0011271 name: Prominent tragus def: "Increase posterolateral protrusion of the tragus." [pmid:19152421] subset: hposlim_core synonym: "Enlarged tragus" EXACT [] synonym: "Large tragus" EXACT [] synonym: "Tragus, prominent" EXACT [] is_a: HP:0009912 ! Abnormality of the tragus created_by: peter creation_date: 2011-12-18T07:59:22Z [Term] id: HP:0011272 name: Underdeveloped tragus def: "Decreased posterolateral protrusion of the tragus." [pmid:19152421] synonym: "Hypoplastic tragus" EXACT [] synonym: "Hypotrophic tragus" EXACT [] synonym: "Small tragus" EXACT [] is_a: HP:0009913 ! Aplasia/Hypoplasia of the tragus created_by: peter creation_date: 2011-12-18T08:01:33Z [Term] id: HP:0011273 name: Anisocytosis def: "Abnormally increased variability in the size of erythrocytes." [HPO:probinson] xref: UMLS:C0221278 "Anisocytosis" is_a: HP:0001877 ! Abnormality of erythrocytes created_by: peter creation_date: 2011-12-28T11:58:24Z [Term] id: HP:0011274 name: Recurrent mycobacterial infections def: "Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] comment: Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics. is_a: HP:0002718 ! Recurrent bacterial infections created_by: peter creation_date: 2011-12-28T12:11:54Z [Term] id: HP:0011275 name: Recurrent mycobacterium avium complex infections def: "Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection." [HPO:probinson] comment: Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection. is_a: HP:0011274 ! Recurrent mycobacterial infections created_by: peter creation_date: 2011-12-28T12:16:46Z [Term] id: HP:0011276 name: Vascular skin abnormality synonym: "VASCULAR ABNORMALITIES RESTRICTED TO SKIN" RELATED [HPO:skoehler] is_a: HP:0011354 ! Generalized abnormality of skin created_by: peter creation_date: 2011-12-29T08:52:53Z [Term] id: HP:0011277 name: Abnormality of the urinary system physiology is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2011-12-30T02:51:16Z [Term] id: HP:0011278 name: Intrapulmonary sequestration def: "A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree." [HPO:probinson] is_a: HP:0100632 ! Pulmonary sequestration created_by: peter creation_date: 2011-12-31T07:43:28Z [Term] id: HP:0011279 name: Abnormality of urine bicarbonate concentration def: "An abnormality of the concentration of hydrogencarbonate in the urine." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "An abnormality of the concentration of `hydrogencarbonate` (CHEBI:17544) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-12-30T02:57:55Z [Term] id: HP:0011280 name: Abnormality of urine calcium concentration def: "An abnormality of calcium concentration in the urine (FMA:12274)." [HPO:probinson] is_a: HP:0004363 ! Abnormality of calcium homeostasis is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: HP:0040005 "An abnormality of `calcium` (CHEBI:29108) concentration in the urine (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-12-30T03:27:02Z [Term] id: HP:0011281 name: Abnormality of urine catecholamine concentration def: "An abnormal level of urinary catecholamine concentration." [HPO:probinson] comment: Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine. xref: MP:0011478 is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "An abnormal level of urinary `catecholamine` (CHEBI:33567) concentration." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2011-12-30T03:35:18Z [Term] id: HP:0011282 name: Abnormality of hindbrain morphology def: "An abnormality of the hindbrain, also known as the rhombencephalon." [HPO:probinson] comment: The hindbrain consists of two main structures: The pons and the cerebellum. synonym: "Abnormality of the hindbrain" EXACT [] is_a: HP:0012443 ! Abnormality of brain morphology property_value: HP:0040005 "An abnormality of the `hindbrain` (FMA:67687), also known as the rhombencephalon." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-01-01T01:22:36Z [Term] id: HP:0011283 name: Abnormality of the metencephalon def: "An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum." [HPO:probinson] is_a: HP:0011282 ! Abnormality of hindbrain morphology property_value: HP:0040005 "An abnormality of the `metencephalon` (FMA:62003). The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-01-01T01:24:14Z [Term] id: HP:0011284 name: Short-segment aganglionic megacolon def: "A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid." [HPO:probinson, pmid:17965226] is_a: HP:0002251 ! Aganglionic megacolon created_by: peter creation_date: 2012-01-01T02:59:57Z [Term] id: HP:0011285 name: Long-segment aganglionic megacolon def: "A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid." [HPO:probinson] is_a: HP:0002251 ! Aganglionic megacolon created_by: peter creation_date: 2012-01-01T03:02:49Z [Term] id: HP:0011286 name: Total colonic aganglionosis def: "A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon." [HPO:probinson] is_a: HP:0002251 ! Aganglionic megacolon created_by: peter creation_date: 2012-01-01T03:03:46Z [Term] id: HP:0011287 name: EEG with occipital sharp slow waves def: "EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:28:45Z [Term] id: HP:0011288 name: EEG with parietal sharp slow waves def: "EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:29:59Z [Term] id: HP:0011289 name: EEG with temporal sharp slow waves def: "EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:30:25Z [Term] id: HP:0011290 name: EEG with frontal sharp slow waves def: "EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:30:41Z [Term] id: HP:0011291 name: EEG with central sharp slow waves def: "EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011195 ! EEG with focal sharp slow waves created_by: peter creation_date: 2012-02-11T12:31:02Z [Term] id: HP:0011292 name: EEG with occipital sharp waves def: "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:31:29Z [Term] id: HP:0011293 name: EEG with central sharp waves def: "EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:32:48Z [Term] id: HP:0011294 name: EEG with frontal sharp waves def: "EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:33:10Z [Term] id: HP:0011295 name: EEG with parietal sharp waves def: "EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:33:29Z [Term] id: HP:0011296 name: EEG with temporal sharp waves def: "EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec." [HPO:jalbers] is_a: HP:0011196 ! EEG with focal sharp waves created_by: peter creation_date: 2012-02-11T12:33:47Z [Term] id: HP:0011297 name: Abnormality of digit def: "A morphological abnormality of a digit, i.e., of a finger or toe." [HPO:probinson] subset: hposlim_core synonym: "Digital anomalies" EXACT [] is_a: HP:0002813 ! Abnormality of limb bone morphology property_value: HP:0040005 "A morphological abnormality of a `digit` (FMA:85518), i.e., of a finger or toe." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-02-11T07:16:22Z [Term] id: HP:0011298 name: Prominent digit pad def: "A soft tissue prominence of the ventral aspects of the fingertips or toe tips." [pmid:19125433] comment: The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known. is_a: HP:0011356 ! Regional abnormality of skin created_by: peter creation_date: 2012-02-11T07:18:29Z [Term] id: HP:0011299 name: Partial absence of finger def: "The absence of a phalangeal segment of a finger." [pmid:19125433] comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers. subset: hposlim_core is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: hecht creation_date: 2012-02-11T10:57:07Z [Term] id: HP:0011300 name: Broad fingertip def: "Increased width of the distal segment of a finger." [pmid:19125433] comment: This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad. subset: hposlim_core synonym: "Broad fingertips" EXACT [HPO:skoehler] is_a: HP:0001211 ! Abnormality of the fingertips created_by: hecht creation_date: 2012-02-11T11:18:08Z [Term] id: HP:0011301 name: Absent foot def: "The total absence of the foot, with no bony elements distal to the tibia or fibula." [pmid:19125433] subset: hposlim_core synonym: "Apodia" EXACT [] xref: SNOMEDCT:371197005 "Congenital absence of foot" xref: UMLS:C0265624 "Congenital absence of foot" is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet created_by: hecht creation_date: 2012-02-11T11:20:59Z [Term] id: HP:0011302 name: Long palm alt_id: HP:0001502 def: "For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length." [pmid:19125433] subset: hposlim_core is_a: HP:0100871 ! Abnormality of the palm created_by: hecht creation_date: 2012-02-12T10:20:56Z [Term] id: HP:0011303 name: Convex contour of sole def: "The contour of the foot in lateral profile has a convex shape." [pmid:19125433] comment: This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot. is_a: HP:0100872 ! Abnormality of the plantar skin of foot created_by: hecht creation_date: 2012-02-12T11:06:12Z [Term] id: HP:0011304 name: Broad thumb alt_id: HP:0001173 alt_id: HP:0001240 alt_id: HP:0004073 alt_id: HP:0009651 def: "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433] comment: Note that this term should not be used for thumbs that meet the definition for Macrodactyly. subset: hposlim_core synonym: "Broad phalanges of the thumb" EXACT [] synonym: "Broad thumbs" EXACT [] synonym: "Wide/broad thumb" EXACT [] synonym: "Wide/broad thumb phalanges" EXACT [] xref: SNOMEDCT:249773003 "Broad thumbs" xref: UMLS:C0426891 "Broad thumb" is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0009768 ! Broad phalanges of the hand created_by: hecht creation_date: 2012-02-12T11:15:31Z [Term] id: HP:0011305 name: Partial absence of toe def: "The absence of a phalangeal segment of a toe or hallux." [pmid:19125433] comment: The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe. synonym: "Hypophalangy of toes" EXACT [] is_a: HP:0010760 ! Absent toe created_by: hecht creation_date: 2012-02-12T12:20:32Z [Term] id: HP:0011307 name: Splayed toes def: "Divergence of digits along the anteroposterior axis (in the plane of the sole)." [pmid:19125433] is_a: HP:0001780 ! Abnormality of toe created_by: hecht creation_date: 2012-02-12T12:38:36Z [Term] id: HP:0011308 name: Slender toe alt_id: HP:0200091 def: "Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [pmid:19125433] synonym: "Narrow toe" EXACT [] is_a: HP:0001780 ! Abnormality of toe created_by: hecht creation_date: 2012-02-12T12:39:51Z [Term] id: HP:0011309 name: Tapered toe alt_id: HP:0008088 alt_id: HP:0200089 def: "The gradual reduction in girth of the digit from proximal to distal." [pmid:19125433] synonym: "Tapering toes" EXACT [] is_a: HP:0001780 ! Abnormality of toe created_by: hecht creation_date: 2012-02-12T12:41:30Z [Term] id: HP:0011310 name: Bridged palmar crease def: "A crease that connects the proximal and distal transverse palmar creases." [pmid:19125433] comment: The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation. synonym: "Transitional palmar crease" EXACT [] is_a: HP:0010490 ! Abnormality of the palmar creases created_by: hecht creation_date: 2012-02-12T12:56:40Z [Term] id: HP:0011311 name: Sydney crease def: "Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm." [pmid:19125433] comment: The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm. is_a: HP:0010490 ! Abnormality of the palmar creases created_by: hecht creation_date: 2012-02-12T12:58:13Z [Term] id: HP:0011312 name: Fused nails def: "A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature." [pmid:19125433] comment: The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately. is_a: HP:0002164 ! Nail dysplasia created_by: hecht creation_date: 2012-02-12T01:12:22Z [Term] id: HP:0011313 name: Narrow nail alt_id: HP:0200076 def: "Decreased width of nail." [pmid:19125433] is_a: HP:0002164 ! Nail dysplasia created_by: hecht creation_date: 2012-02-12T01:33:34Z [Term] id: HP:0011314 name: Abnormality of long bone morphology alt_id: HP:0100713 alt_id: HP:0100714 alt_id: HP:0100715 def: "An abnormality of size or shape of the long bones." [HPO:probinson] synonym: "Abnormality of the tubular bones" EXACT [] is_a: HP:0011842 ! Abnormality of skeletal morphology is_a: HP:0011844 ! Abnormal appendicular skeleton morphology property_value: HP:0040005 "An abnormality of size or shape of the `long bones` (FMA:7474)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-02-12T02:31:03Z [Term] id: HP:0011315 name: Unicoronal synostosis def: "Synostosis affecting only one of the coronal sutures." [DDD:awilkie] synonym: "Unilateral coronal craniosynostosis" RELATED [] is_a: HP:0004440 ! Coronal craniosynostosis created_by: peter creation_date: 2012-02-25T01:08:28Z [Term] id: HP:0011316 name: Left unicoronal synostosis def: "Synostosis affecting only the left coronal suture." [DDD:awilkie] is_a: HP:0011315 ! Unicoronal synostosis created_by: peter creation_date: 2012-02-25T01:10:32Z [Term] id: HP:0011317 name: Right unicoronal synostosis def: "Unicoronal synostosis affecting only the right coronal suture." [DDD:awilkie] is_a: HP:0011315 ! Unicoronal synostosis created_by: peter creation_date: 2012-02-25T01:11:21Z [Term] id: HP:0011318 name: Bicoronal synostosis def: "Synostosis affecting the right and the left coronal suture." [DDD:awilkie] subset: hposlim_core synonym: "Bilateral coronal craniosynostosis" EXACT [] is_a: HP:0004440 ! Coronal craniosynostosis created_by: peter creation_date: 2012-02-25T01:11:41Z [Term] id: HP:0011319 name: Bilambdoid synostosis def: "Premature synostosis of both lambdoid sutures." [DDD:awilkie] subset: hposlim_core synonym: "Bilateral lambdoid synostosis" EXACT [] is_a: HP:0004443 ! Lambdoidal craniosynostosis created_by: peter creation_date: 2012-02-25T01:12:22Z [Term] id: HP:0011320 name: Unilambdoid synostosis def: "Premature synostosis of only one lambdoid suture." [DDD:awilkie] subset: hposlim_core synonym: "Unilateral lambdoid synostosis" EXACT [] is_a: HP:0004443 ! Lambdoidal craniosynostosis created_by: peter creation_date: 2012-02-25T01:13:20Z [Term] id: HP:0011321 name: Left unilambdoid synostosis def: "Premature synostosis of only the left lambdoid suture." [DDD:awilkie] is_a: HP:0011320 ! Unilambdoid synostosis created_by: peter creation_date: 2012-02-25T01:13:46Z [Term] id: HP:0011322 name: Right unilambdoid synostosis def: "Premature synostosis of only the right lambdoid suture." [DDD:awilkie] is_a: HP:0011320 ! Unilambdoid synostosis created_by: peter creation_date: 2012-02-25T01:14:34Z [Term] id: HP:0011323 name: Cleft of chin def: "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [DDD:jclayton-smith] is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-02-25T05:17:03Z [Term] id: HP:0011324 name: Multiple suture craniosynostosis def: "Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified." [DDD:awilkie] comment: If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available. synonym: "Multisutural craniosynostosis" EXACT [] is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2012-02-25T01:16:13Z [Term] id: HP:0011325 name: Pansynostosis def: "Craniosynostosis of all calvarial sutures." [DDD:awilkie] is_a: HP:0011324 ! Multiple suture craniosynostosis created_by: peter creation_date: 2012-02-25T01:27:38Z [Term] id: HP:0011326 name: Anterior plagiocephaly def: "Asymmetry of the anterior part of the skull." [DDD:awilkie] comment: Anterior plagiocephaly may have synostotic or non-synostotic causes. is_a: HP:0001357 ! Plagiocephaly created_by: peter creation_date: 2012-02-25T02:10:41Z [Term] id: HP:0011327 name: Posterior plagiocephaly def: "Asymmetry of the posterior part of the skull." [DDD:awilkie, pmid:10876272] comment: Anterior plagiocephaly may have synostotic or non-synostotic causes. synonym: "Deformational plagiocephaly" RELATED [] synonym: "Occipital plagiocephaly" EXACT [] is_a: HP:0001357 ! Plagiocephaly created_by: peter creation_date: 2012-02-25T02:11:33Z [Term] id: HP:0011328 name: Abnormality of fontanelles def: "An abnormality of the fontanelle." [HPO:probinson, pmid:12825844] comment: The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life. subset: hposlim_core synonym: "Anomaly of the fontanelles" RELATED [] is_a: HP:0000235 ! Abnormality of the fontanelles or cranial sutures property_value: HP:0040005 "An abnormality of the `fontanelle` (FMA:75438)." xsd:string {xref="HPO:probinson", xref="pmid:12825844"} created_by: peter creation_date: 2012-02-25T02:34:36Z [Term] id: HP:0011329 name: Abnormality of cranial sutures def: "Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson] is_a: HP:0000235 ! Abnormality of the fontanelles or cranial sutures created_by: peter creation_date: 2012-02-25T03:33:56Z [Term] id: HP:0011330 name: Metopic synostosis def: "Premature fusion of the metopic suture." [DDD:awilkie] subset: hposlim_core synonym: "Metopic suture craniosynostosis" EXACT [] is_a: HP:0005556 ! Abnormality of the metopic suture created_by: peter creation_date: 2012-02-25T03:52:01Z [Term] id: HP:0011331 name: Hemifacial atrophy def: "Unilateral atrophy of facial tissues, including muscles, bones and skin." [DDD:awilkie] subset: hposlim_core xref: MeSH:D005150 "Facial Hemiatrophy" is_a: HP:0000324 ! Facial asymmetry created_by: peter creation_date: 2012-02-25T05:04:56Z [Term] id: HP:0011332 name: Hemifacial hypoplasia def: "Unilateral underdevelopment of the facial tissues, including muscles and bones." [DDD:awilkie] is_a: HP:0000324 ! Facial asymmetry created_by: peter creation_date: 2012-02-25T05:05:45Z [Term] id: HP:0011333 name: Asymmetric crying face def: "Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side." [HPO:cwright] comment: Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve. is_a: HP:0000324 ! Facial asymmetry created_by: peter creation_date: 2012-02-25T05:07:01Z [Term] id: HP:0011334 name: Facial shape deformation synonym: "Facial shape compression" EXACT [] is_a: HP:0001999 ! Abnormal facial shape created_by: peter creation_date: 2012-02-25T05:10:19Z [Term] id: HP:0011335 name: Frontal hirsutism def: "Excessive amount of hair growth on forehead." [DDD:jclayton-smith] synonym: "Hirsute forehead" EXACT [] is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0009937 ! Facial hirsutism created_by: peter creation_date: 2012-02-25T05:21:59Z [Term] id: HP:0011336 name: Bitemporal forceps marks def: "Bilateral temporal scarlike defects, which are said to resemble forceps marks." [DDD:jclayton-smith] synonym: "Temporal skin defect" RELATED [] is_a: HP:0000606 ! Abnormality of the periorbital region created_by: peter creation_date: 2012-02-25T05:25:36Z [Term] id: HP:0011337 name: Abnormality of mouth size is_a: HP:0000153 ! Abnormality of the mouth created_by: peter creation_date: 2012-02-26T11:00:17Z [Term] id: HP:0011338 name: Abnormality of mouth shape def: "An abnormality of the outline, configuration, or contour of the mouth." [DDD:jhurst] is_a: HP:0000153 ! Abnormality of the mouth created_by: peter creation_date: 2012-02-26T01:05:23Z [Term] id: HP:0011339 name: Abnormality of upper lip vermillion def: "An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin." [HPO:probinson] is_a: HP:0000177 ! Abnormality of upper lip created_by: peter creation_date: 2012-02-26T01:32:28Z [Term] id: HP:0011340 name: Incomplete cleft of the upper lip def: "A subtle unilateral cleft of the upper lip, which may appear as a small indentation." [DDD:jclayton-smith] synonym: "Forme fruste unilateral cleft lip" EXACT [] is_a: HP:0000204 ! Cleft upper lip created_by: peter creation_date: 2012-02-26T01:55:36Z [Term] id: HP:0011341 name: Long upper lip def: "Increased width of the upper lip." [DDD:jhurst] xref: UMLS:C1848977 "Short upper lip" is_a: HP:0000177 ! Abnormality of upper lip property_value: HP:0040005 "Increased width of the `upper lip` (FMA:59817)." xsd:string {xref="DDD:jhurst"} created_by: peter creation_date: 2012-02-26T01:58:08Z [Term] id: HP:0011342 name: Mild global developmental delay def: "A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2012-02-29T11:19:49Z [Term] id: HP:0011343 name: Moderate global developmental delay def: "A moderate delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] synonym: "PSYCHOMOTOR RETARDATION, MODERATE" RELATED [HPO:skoehler] is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2012-02-29T11:20:28Z [Term] id: HP:0011344 name: Severe global developmental delay def: "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] synonym: "SEVERE PSYCHOMOTOR RETARDATION" RELATED [HPO:skoehler] is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2012-02-29T11:20:45Z [Term] id: HP:0011345 name: Moderate expressive language delay def: "A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth] xref: UMLS:C1851085 "Severe expressive language delay" is_a: HP:0002474 ! Expressive language delay created_by: peter creation_date: 2012-03-01T08:45:49Z [Term] id: HP:0011346 name: Mild expressive language delay def: "A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [DDD:hvfirth] xref: UMLS:C1851085 "Severe expressive language delay" is_a: HP:0002474 ! Expressive language delay created_by: peter creation_date: 2012-03-01T08:46:23Z [Term] id: HP:0011347 name: Abnormality of ocular abduction def: "An abnormality involving the movement of the eye outwards." [HPO:probinson] is_a: HP:0000496 ! Abnormality of eye movement created_by: peter creation_date: 2012-03-01T10:18:05Z [Term] id: HP:0011348 name: Abnormality of the sixth cranial nerve def: "An abnormality of the abducens nerve." [HPO:probinson] comment: The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head). is_a: HP:0001291 ! Abnormality of the cranial nerves property_value: HP:0040005 "An abnormality of the `abducens nerve` (FMA:50867)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-01T10:20:44Z [Term] id: HP:0011349 name: Abducens palsy def: "Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward." [HPO:probinson] comment: Affected individuals may experience diplopia as well as esotropia or convergent strabismus. is_a: HP:0011348 ! Abnormality of the sixth cranial nerve created_by: peter creation_date: 2012-03-01T10:30:20Z [Term] id: HP:0011350 name: Mild receptive language delay def: "A mild delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth] is_a: HP:0010863 ! Receptive language delay created_by: peter creation_date: 2012-03-01T10:52:40Z [Term] id: HP:0011351 name: Moderate receptive language delay def: "A moderate delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth] is_a: HP:0010863 ! Receptive language delay created_by: peter creation_date: 2012-03-01T10:53:13Z [Term] id: HP:0011352 name: Severe receptive language delay def: "A severe delay in the acquisition of the ability to understand the speech of others." [DDD:hvfirth] is_a: HP:0010863 ! Receptive language delay created_by: peter creation_date: 2012-03-01T10:53:30Z [Term] id: HP:0011353 name: Arterial intimal fibrosis def: "Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries." [HPO:probinson] synonym: "Intimal fibrosis" RELATED [] is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2012-03-01T01:05:59Z [Term] id: HP:0011354 name: Generalized abnormality of skin def: "An abnormality of the skin that is not localized to any one particular region." [DDD:cmoss] synonym: "Generalised abnormality of skin" EXACT [] is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2012-03-01T01:55:07Z [Term] id: HP:0011355 name: Localized skin lesion def: "A lesion of the skin that is located in a specific region rather than being generalized." [DDD:cmoss] is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2012-03-01T02:37:43Z [Term] id: HP:0011356 name: Regional abnormality of skin def: "An abnormality of the skin that is restricted to a particular body region." [DDD:cmoss] is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2012-03-01T02:39:14Z [Term] id: HP:0011357 name: Abnormality of hair density def: "An abnormality of the density of hair growth." [DDD:cmoss] is_a: HP:0001595 ! Abnormality of the hair created_by: peter creation_date: 2012-03-01T02:51:40Z [Term] id: HP:0011358 name: Generalized hypopigmentation of hair def: "Reduced pigmentation of hair diffusely." [DDD:cmoss] is_a: HP:0005599 ! Hypopigmentation of hair created_by: peter creation_date: 2012-03-01T03:32:59Z [Term] id: HP:0011359 name: Dry hair alt_id: HP:0200077 alt_id: HP:0200079 alt_id: HP:0200080 def: "Hair that lacks the lustre (shine or gleam) of normal hair." [DDD:cmoss] is_a: HP:0010719 ! Abnormality of hair texture created_by: peter creation_date: 2012-03-01T04:24:09Z [Term] id: HP:0011360 name: Acquired abnormal hair pattern def: "An abnormality of the distribution of hair growth that is acquired during the course of life." [DDD:cmoss] is_a: HP:0010720 ! Abnormal hair pattern created_by: peter creation_date: 2012-03-01T08:36:23Z [Term] id: HP:0011361 name: Congenital abnormal hair pattern def: "A congenital abnormality of the distribution of hair growth." [DDD:cmoss] is_a: HP:0010720 ! Abnormal hair pattern created_by: peter creation_date: 2012-03-01T08:39:51Z [Term] id: HP:0011362 name: Abnormal hair quantity alt_id: HP:0002115 def: "An abnormal amount of hair." [DDD:cmoss] is_a: HP:0001595 ! Abnormality of the hair created_by: peter creation_date: 2012-03-01T08:46:57Z [Term] id: HP:0011363 name: Abnormality of hair growth rate def: "Hair whose growth rate deviates from the norm." [DDD:cmoss] comment: Hair growth rate is normally about 1.25 centimeters per month. is_a: HP:0001595 ! Abnormality of the hair created_by: peter creation_date: 2012-03-01T09:46:36Z [Term] id: HP:0011364 name: White hair def: "Hypopigmented hair that appears white." [DDD:cmoss] is_a: HP:0011358 ! Generalized hypopigmentation of hair created_by: peter creation_date: 2012-03-01T09:50:48Z [Term] id: HP:0011365 name: Patchy hypopigmentation of hair def: "Reduced pigmentation of hair in patches." [DDD:cmoss] is_a: HP:0005599 ! Hypopigmentation of hair created_by: peter creation_date: 2012-03-01T09:52:58Z [Term] id: HP:0011367 name: Yellow nails def: "Yellowish discoloration of the nails." [DDD:cmoss] is_a: HP:0100643 ! Abnormality of nail color created_by: peter creation_date: 2012-03-03T12:08:12Z [Term] id: HP:0011368 name: Epidermal thickening alt_id: HP:0001035 def: "Thickening of the epidermal layer of the skin." [HPO:probinson] synonym: "Abnormality of keratinization" RELATED [] is_a: HP:0001072 ! Thickened skin created_by: peter creation_date: 2012-03-03T12:25:18Z [Term] id: HP:0011369 name: Mongolian blue spot def: "Congenital deep dermal melanosis in the sacral area." [DDD:cmoss] is_a: HP:0001034 ! Hypermelanotic macule created_by: peter creation_date: 2012-03-03T03:34:48Z [Term] id: HP:0011370 name: Recurrent cutaneous fungal infections is_a: HP:0001581 ! Recurrent skin infections created_by: peter creation_date: 2012-03-03T10:34:52Z [Term] id: HP:0011371 name: Recurrent viral skin infections is_a: HP:0001581 ! Recurrent skin infections created_by: peter creation_date: 2012-03-03T10:36:20Z [Term] id: HP:0011372 name: Aplasia of the inner ear def: "Absence of the inner ear due to a developmental defect." [DDD:dfitzpatrick] comment: Aplasia of the inner ear is usually diagnosed on MR or CT imaging. synonym: "Aplasia of the labyrinth" EXACT [] synonym: "Labyrinthine aplasia" EXACT [] synonym: "Michel deformity" EXACT [] is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear created_by: peter creation_date: 2012-03-07T08:23:52Z [Term] id: HP:0011373 name: Incomplete partition of the cochlea def: "Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema." [HPO:probinson] is_a: HP:0008554 ! Cochlear malformation created_by: peter creation_date: 2012-03-07T08:24:55Z [Term] id: HP:0011374 name: Incomplete partition of the cochlea type I def: "The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule." [DDD:mbitner-glidicz] is_a: HP:0011373 ! Incomplete partition of the cochlea created_by: peter creation_date: 2012-03-07T08:26:25Z [Term] id: HP:0011375 name: Cochlear aplasia def: "Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:dfitzpatrick] is_a: HP:0011395 ! Aplasia/Hypoplasia of the cochlea created_by: peter creation_date: 2012-03-07T08:31:27Z [Term] id: HP:0011376 name: Morphological abnormality of the vestibule of the inner ear def: "A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals." [DDD:mbitner-glidicz] synonym: "Vestibular abnormality" EXACT [] is_a: HP:0011390 ! Morphological abnormality of the inner ear created_by: peter creation_date: 2012-03-07T08:35:08Z [Term] id: HP:0011377 name: Aplasia of the vestibule def: "Complete absence of the vestibule of the inner ear." [DDD:dfitzpatrick] is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-07T08:37:27Z [Term] id: HP:0011378 name: Hypoplasia of the vestibule of the inner ear def: "Underdevelopment of the vestibule of the inner ear." [DDD:mbitner-glidicz] is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-09T07:06:20Z [Term] id: HP:0011379 name: Dilated vestibule of the inner ear def: "Dilatation of the vestibule of the inner ear." [DDD:mbitner-glidicz] is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-09T07:07:38Z [Term] id: HP:0011380 name: Morphological abnormality of the semicircular canal def: "An abnormality of the morphology of the semicircular canal." [DDD:dfitzpatrick] is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear property_value: HP:0040005 "An abnormality of the morphology of the `semicircular canal` (FMA:60186)." xsd:string {xref="DDD:dfitzpatrick"} created_by: peter creation_date: 2012-03-09T07:12:21Z [Term] id: HP:0011381 name: Aplasia of the semicircular canal def: "Absence of the semicircular canal." [DDD:dfitzpatrick] is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter creation_date: 2012-03-09T07:14:57Z [Term] id: HP:0011382 name: Hypoplasia of the semicircular canal def: "Underdevelopment of the semicircular canal." [DDD:dfitzpatrick] synonym: "HYPOPLASIA OF THE SEMICIRCULAR CANALS" RELATED [HPO:skoehler] is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter creation_date: 2012-03-09T07:15:47Z [Term] id: HP:0011383 name: Enlarged semicircular canal def: "Increased size of the semicircular canal." [DDD:dfitzpatrick] synonym: "Dilated semicircular canal" EXACT [] is_a: HP:0011380 ! Morphological abnormality of the semicircular canal created_by: peter creation_date: 2012-03-09T07:16:58Z [Term] id: HP:0011384 name: Abnormality of the internal auditory canal def: "An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse." [DDD:mbitner-glidicz] synonym: "Abnormality of the internal acoustic meatus" EXACT [] is_a: HP:0011390 ! Morphological abnormality of the inner ear property_value: HP:0040005 "An abnormality of the `Internal acoustic meatus` (FMA:53163), i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse." xsd:string {xref="DDD:mbitner-glidicz"} created_by: peter creation_date: 2012-03-09T07:26:47Z [Term] id: HP:0011385 name: Absent internal auditory canal def: "Aplasia of the internal auditory canal." [DDD:dfitzpatrick] is_a: HP:0011384 ! Abnormality of the internal auditory canal created_by: peter creation_date: 2012-03-09T07:33:46Z [Term] id: HP:0011386 name: Narrow internal auditory canal def: "Reduction in diameter of the internal auditory canal." [DDD:dfitzpatrick] is_a: HP:0011384 ! Abnormality of the internal auditory canal created_by: peter creation_date: 2012-03-09T07:35:00Z [Term] id: HP:0011387 name: Enlarged vestibular aqueduct def: "Increased size of the vestibular aqueduct." [DDD:mbitner-glidicz] comment: Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. synonym: "Dilated vestibular aqueduct" EXACT [] synonym: "Widened vesitbular aqueduct" EXACT [] is_a: HP:0011376 ! Morphological abnormality of the vestibule of the inner ear created_by: peter creation_date: 2012-03-09T07:38:34Z [Term] id: HP:0011388 name: Enlarged cochlear aqueduct def: "Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular." [DDD:dfitzpatrick] comment: The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher. synonym: "Dilated cochlear aqueduct" EXACT [] is_a: HP:0000375 ! Abnormality of cochlea property_value: HP:0040005 "Increased size of the `cochlear duct` (FMA:61119), i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular." xsd:string {xref="DDD:dfitzpatrick"} created_by: peter creation_date: 2012-03-09T07:41:47Z [Term] id: HP:0011389 name: Functional abnormality of the inner ear def: "An abnormality of the function of the inner ear." [DDD:dfitzpatrick] comment: The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. is_a: HP:0000359 ! Abnormality of the inner ear created_by: hecht creation_date: 2012-03-09T04:58:30Z [Term] id: HP:0011390 name: Morphological abnormality of the inner ear def: "A structural anomaly of the internal part of the ear." [HPO:probinson] comment: The inner ear contains the cochlea and the semicircular canals. is_a: HP:0000359 ! Abnormality of the inner ear created_by: hecht creation_date: 2012-03-09T04:59:24Z [Term] id: HP:0011391 name: Morphological abnormality of the nerves of the inner ear is_a: HP:0011390 ! Morphological abnormality of the inner ear created_by: hecht creation_date: 2012-03-09T05:03:30Z [Term] id: HP:0011392 name: Abnormality of the vestibular nerve is_a: HP:0011391 ! Morphological abnormality of the nerves of the inner ear created_by: hecht creation_date: 2012-03-09T05:03:47Z [Term] id: HP:0011393 name: Aplasia of the vestibular nerve. def: "Absence of the vestibular nerve." [DDD:mbitner-glidicz] comment: May be seen in CHARGE syndrome. synonym: "Aplasia of cranial nerve VIII" RELATED [] synonym: "Aplasia of the eighth cranial nerve" EXACT [] is_a: HP:0011392 ! Abnormality of the vestibular nerve created_by: hecht creation_date: 2012-03-09T05:08:14Z [Term] id: HP:0011394 name: Hypoplasia of the vestibular nerve def: "Underdevelopment of the vestibular nerve." [DDD:dfitzpatrick] synonym: "Hypoplasia of cranial nerve VIII" RELATED [] synonym: "Hypoplasia of the eighth cranial nerve" EXACT [] synonym: "Thin vestibular nerve" EXACT [] is_a: HP:0011392 ! Abnormality of the vestibular nerve created_by: hecht creation_date: 2012-03-09T05:14:35Z [Term] id: HP:0011395 name: Aplasia/Hypoplasia of the cochlea def: "Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect." [HPO:probinson] is_a: HP:0000375 ! Abnormality of cochlea is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear created_by: hecht creation_date: 2012-03-09T05:37:50Z [Term] id: HP:0011396 name: Abnormality of the cochlear nerve is_a: HP:0011391 ! Morphological abnormality of the nerves of the inner ear created_by: hecht creation_date: 2012-03-09T05:39:04Z [Term] id: HP:0011397 name: Abnormality of the dorsal column of the spinal cord def: "An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus." [HPO:probinson] comment: The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception. is_a: HP:0002143 ! Abnormality of the spinal cord created_by: peter creation_date: 2012-03-12T07:39:12Z [Term] id: HP:0011398 name: Central hypotonia def: "Reduced muscle tone secondary to an abnormality of the central nervous system." [DDD:fmuntoni] is_a: HP:0003808 ! Abnormal muscle tone is_a: HP:0011442 ! Abnormality of central motor function created_by: peter creation_date: 2012-03-12T04:39:51Z [Term] id: HP:0011399 name: Tibialis atrophy def: "Atrophy of the tibialis muscle." [HPO:probinson] is_a: HP:0008944 ! Distal lower limb amyotrophy created_by: peter creation_date: 2012-03-12T06:15:40Z [Term] id: HP:0011400 name: Abnormal CNS myelination alt_id: HP:0002520 alt_id: HP:0004335 def: "An abnormality of myelination of nerves in the central nervous system." [DDD:fmuntoni] comment: MERGED COMMENT:\nTARGET COMMENT: In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS).\n--------------------\nSOURCE COMMENT: An abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. synonym: "Abnormal formation of myelin sheaths" EXACT [] is_a: HP:0002011 ! Morphological abnormality of the central nervous system is_a: HP:0012447 ! Abnormal myelination property_value: HP:0040005 "An abnormality of `myelination` (GO:0042552) of nerves in the central nervous system." xsd:string {xref="DDD:fmuntoni"} created_by: peter creation_date: 2012-03-12T07:24:42Z [Term] id: HP:0011401 name: Delayed peripheral myelination def: "Delayed myelination in the peripheral nervous system." [HPO:probinson] is_a: HP:0003130 ! Abnormal peripheral myelination is_a: HP:0012448 ! Delayed myelination property_value: HP:0040005 "`Delayed` (PATO:0000502) `myelination` (GO:0042552) in the peripheral nervous system." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-12T08:08:41Z [Term] id: HP:0011402 name: Demyelinating sensory neuropathy def: "Demyelination of peripheral sensory nerves." [HPO:probinson] is_a: HP:0007108 ! Demyelinating peripheral neuropathy created_by: peter creation_date: 2012-03-12T08:28:12Z [Term] id: HP:0011403 name: Abnormal umbilical cord blood vessels is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: peter creation_date: 2012-03-15T11:05:13Z [Term] id: HP:0011404 name: Lethal short-trunk short stature def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth." [HPO:probinson] synonym: "Lethal short-trunk dwarfism" EXACT [] is_a: HP:0003521 ! Disproportionate short-trunk short stature property_value: HP:0040005 "A type of `disproportionate short stature` (HP:0003498) characterized by a short trunk but a average-sized limbs that is lethal at birth." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-15T09:38:44Z [Term] id: HP:0011405 name: Childhood onset short-limb short stature alt_id: HP:0003523 synonym: "Short-limb dwarfism identifiable during childhood" EXACT [] is_a: HP:0008873 ! Disproportionate short-limb short stature created_by: peter creation_date: 2012-03-15T09:44:56Z [Term] id: HP:0011406 name: Infancy onset short-trunk short stature alt_id: HP:0008851 def: "A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy." [HPO:probinson] synonym: "Short-trunk dwarfism, identifiable in infancy" EXACT [] is_a: HP:0003521 ! Disproportionate short-trunk short stature property_value: HP:0040005 "A type of `disproportionate short stature` (HP:0003498) characterized by a short trunk but a average-sized limbs with onset in infancy." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-15T09:45:48Z [Term] id: HP:0011407 name: Proportionate tall stature is_a: HP:0000098 ! Tall stature created_by: peter creation_date: 2012-03-15T09:47:20Z [Term] id: HP:0011408 name: Moderate intrauterine growth retardation def: "Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age." [DDD:hfirth] is_a: HP:0001511 ! Intrauterine growth retardation created_by: peter creation_date: 2012-03-15T09:52:50Z [Term] id: HP:0011409 name: Abnormality of placental membranes is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord created_by: peter creation_date: 2012-03-15T11:07:01Z [Term] id: HP:0011410 name: Caesarian section is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T09:58:01Z [Term] id: HP:0011411 name: Forceps delivery is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T09:58:47Z [Term] id: HP:0011412 name: Ventouse delivery def: "Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately." [DDD:hfirth] is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T09:59:31Z [Term] id: HP:0011413 name: Shoulder dystocia def: "Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex." [pmid:15086043] comment: Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed. is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2012-03-15T10:01:02Z [Term] id: HP:0011414 name: Hydropic placenta def: "An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement." [HPO:hfirth] synonym: "Hydrops of the placenta" EXACT [] is_a: HP:0006267 ! Large placenta is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2012-03-15T10:07:47Z [Term] id: HP:0011415 name: Calcified placenta is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2012-03-15T10:10:35Z [Term] id: HP:0011416 name: Placental infarction synonym: "Placental thromboembolism" EXACT [] is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2012-03-15T10:11:39Z [Term] id: HP:0011417 name: Long umbilical cord def: "Increased length of the umbilical cord." [DDD:hfirth] is_a: HP:0010881 ! Abnormality of the umbilical cord property_value: HP:0040005 "Increased length of the `umbilical cord` (FMA:85541)." xsd:string {xref="DDD:hfirth"} created_by: peter creation_date: 2012-03-15T10:12:55Z [Term] id: HP:0011418 name: Abnormal insertion of umbilical cord synonym: "Vasa previa" EXACT [] is_a: HP:0010881 ! Abnormality of the umbilical cord created_by: peter creation_date: 2012-03-15T10:15:01Z [Term] id: HP:0011419 name: Placental abruption def: "Separation of the placenta from the uterus wall before delivery." [DDD:hfirth] synonym: "Abruptio placentae" EXACT [] xref: MeSH:D000037 "Abruptio Placentae" is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2012-03-15T11:08:18Z [Term] id: HP:0011420 name: Time of death def: "The age group when the cessation of life happens." [HPO:probinson] is_a: HP:0040006 ! Mortality/Aging [Term] id: HP:0011421 name: Death in adolescence def: "Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years)." [HPO:probinson] is_a: HP:0011420 ! Time of death created_by: peter creation_date: 2012-03-16T06:38:44Z [Term] id: HP:0011422 name: Abnormality of chloride homeostasis def: "An abnormality of chloride homeostasis or concentration in the body." [HPO:probinson] is_a: HP:0003111 ! Abnormality of ion homeostasis property_value: HP:0040005 "An abnormality of `chloride` (CHEBI:17996) homeostasis or concentration in the body." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-16T06:09:15Z [Term] id: HP:0011423 name: Hyperchloremia def: "An abnormally increased chloride concentration in the blood." [HPO:probinson] is_a: HP:0011422 ! Abnormality of chloride homeostasis property_value: HP:0040005 "An abnormally increased `chloride` (CHEBI:17996) concentration in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-16T06:09:40Z [Term] id: HP:0011424 name: Increased serum zinc def: "An increased consentration of zinc in the blood." [HPO:probinson] synonym: "Hyperzincemia" EXACT [] is_a: HP:0008277 ! Abnormality of zinc homeostasis property_value: HP:0040005 "An increased consentration of zinc in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-17T08:54:44Z [Term] id: HP:0011425 name: Fetal ultrasound soft marker def: "An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders." [pmid:16100637] comment: The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (pmid:16100637). is_a: HP:0001197 ! Abnormality of prenatal development or birth created_by: peter creation_date: 2012-03-17T04:26:01Z [Term] id: HP:0011426 name: Fetal choroid plexus cysts def: "Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts (3 mm or more) found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (pmid:16100637)." [DDD:hfirth, pmid:16100637] is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T06:59:50Z [Term] id: HP:0011427 name: Enlarged fetal cisterna magna def: "The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vemis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (pmid:16100637)." [DDD:hfirth, pmid:16100637] is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:03:07Z [Term] id: HP:0011428 name: Short fetal femur length def: "A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637] is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:05:40Z [Term] id: HP:0011429 name: Short fetal humerus length def: "A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637)." [HPO:probinson, pmid:16100637] is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:07:05Z [Term] id: HP:0011430 name: Hypoplasia of fetal nasal bone def: "On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (pmid:16100637)." [HPO:probinson, pmid:16100637] is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:08:30Z [Term] id: HP:0011431 name: Fetal fifth finger clinodactyly def: "Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (pmid:16100637)." [HPO:probinson, pmid:16100637] is_a: HP:0011425 ! Fetal ultrasound soft marker created_by: peter creation_date: 2012-03-17T07:11:26Z [Term] id: HP:0011432 name: High maternal serum alpha-fetoprotein def: "An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age." [DDD:hfirth] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:45:07Z [Term] id: HP:0011433 name: High maternal serum chorionic gonadotropin def: "An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [DDD:hfirth, pmid:2447576] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "High maternal serum hCG" EXACT [] is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:47:39Z [Term] id: HP:0011434 name: Low maternal serum chorionic gonadotropin def: "An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age." [DDD:hfirth, pmid:2447576] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. synonym: "Low maternal serum hCG" EXACT [] is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:48:26Z [Term] id: HP:0011435 name: Low maternal serum PAPP-A def: "An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age." [DDD:hfirth, pmid:19038077] comment: Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome. is_a: HP:0011436 ! Abnormal maternal serum screening created_by: peter creation_date: 2012-03-17T07:51:25Z [Term] id: HP:0011436 name: Abnormal maternal serum screening def: "An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy." [DDD:hfirth, pmid:19038077] is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2012-03-17T07:52:25Z [Term] id: HP:0011437 name: Maternal autoimmune disease def: "A medical history of a fetus or child born to a mother with an autoimmune disease." [DDD:hfirth] comment: Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia. is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2012-03-17T07:54:31Z [Term] id: HP:0011438 name: Maternal teratogenic exposure def: "A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy." [DDD:hfirth] comment: Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants). is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2012-03-17T07:59:06Z [Term] id: HP:0011439 name: Anesthetic-induced rhabdomylosis def: "Rhabdomyolysis induced by anesthesia." [HPO:probinson] is_a: HP:0003201 ! Rhabdomyolysis property_value: HP:0040005 "`Rhabdomyolysis` (HP:0003201) induced by anesthesia." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-18T12:19:01Z [Term] id: HP:0011440 name: Alcohol-induced rhabdomyolysis def: "Rhabdomyolysis induced by intake of alcohol." [HPO:probinson] is_a: HP:0003201 ! Rhabdomyolysis property_value: HP:0040005 "`Rhabdomyolysis` (HP:0003201) induced by intake of alcohol." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-18T12:21:35Z [Term] id: HP:0011441 name: Abnormality of the medulla oblongata def: "An abnormality of the medulla oblongata, the lower half of the brainstem." [HPO:probinson] comment: The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. synonym: "Abnormality of the myencephalon" EXACT [] is_a: HP:0002363 ! Abnormality of brainstem morphology is_a: HP:0011282 ! Abnormality of hindbrain morphology property_value: HP:0040005 "An abnormality of the `medulla oblongata` (FMA:62004), the lower half of the brainstem." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-18T01:51:24Z [Term] id: HP:0011442 name: Abnormality of central motor function def: "An anomaly of the control or production of movement in the central nervous system." [HPO:probinson] is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2012-03-18T02:29:04Z [Term] id: HP:0011443 name: Abnormality of coordination is_a: HP:0011442 ! Abnormality of central motor function created_by: peter creation_date: 2012-03-18T02:40:46Z [Term] id: HP:0011444 name: Decorticate rigidity def: "A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus." [HPO:probinson] is_a: HP:0002063 ! Rigidity created_by: peter creation_date: 2012-03-18T03:30:10Z [Term] id: HP:0011445 name: Athetoid cerebral palsy def: "A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone." [DDD:ssissodiya] comment: Athetoid cerebral palsy is caused by damage to the basal ganglia. synonym: "Dyskinetic cerebral palsy." RELATED [] is_a: HP:0002071 ! Abnormality of extrapyramidal motor function is_a: HP:0100021 ! Cerebral palsy created_by: peter creation_date: 2012-03-18T03:53:04Z [Term] id: HP:0011446 name: Abnormality of higher mental function def: "Cognitive, psychiatric or memory anomaly." [DDD:ajackson] is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2012-03-18T04:23:59Z [Term] id: HP:0011447 name: Hyposegmentation of neutrophil nuclei def: "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei." [DDD:probinson] comment: Hyposegmented cells are neutrophils with fewer than three nuclear lobes. synonym: "Pelger-Huet anomaly" RELATED [] is_a: HP:0011992 ! Abnormality of neutrophil morphology created_by: peter creation_date: 2012-03-18T04:44:22Z [Term] id: HP:0011448 name: Ankle clonus alt_id: HP:0002541 def: "Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward." [HPO:probinson] comment: Ankle clonus is generally caused by corticospinal disease. is_a: HP:0002169 ! Clonus is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0003028 ! Abnormality of the ankles created_by: peter creation_date: 2012-03-18T05:09:48Z [Term] id: HP:0011449 name: Knee clonus alt_id: HP:0002325 def: ".Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes." [HPO:probinson] synonym: "Patellar clonus" EXACT [] is_a: HP:0002169 ! Clonus created_by: peter creation_date: 2012-03-18T05:11:32Z [Term] id: HP:0011450 name: CNS infection is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2012-03-18T05:57:29Z [Term] id: HP:0011451 name: Congenital microcephaly def: "Microcephaly (HP:0000252) that is present already at the time of birth." [HPO:probinson] synonym: "Head circumference small for gestational age" RELATED [] is_a: HP:0000252 ! Microcephaly created_by: peter creation_date: 2012-03-18T06:50:36Z [Term] id: HP:0011452 name: Functional abnormality of the middle ear def: "An abnormality of the function of the middle ear." [HPO:probinson] comment: The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. is_a: HP:0000370 ! Abnormality of the middle ear created_by: peter creation_date: 2012-03-19T09:33:03Z [Term] id: HP:0011453 name: Abnormality of the incus def: "An abnormality of the incus, an ossicle in the middle ear." [DDD:dfitzpatrick] is_a: HP:0004452 ! Abnormality of the middle ear ossicles property_value: HP:0040005 "An abnormality of the `incus` (FMA:52752), an ossicle in the middle ear." xsd:string {xref="DDD:dfitzpatrick"} created_by: peter creation_date: 2012-03-19T09:38:20Z [Term] id: HP:0011454 name: Abnormality of the malleus def: "An abnormality of the malleus* (FMA:52753), an ossicle in the middle ear." [DDD:dfitzpatrick] is_a: HP:0004452 ! Abnormality of the middle ear ossicles property_value: HP:0040005 "An abnormality of the `malleus* (FMA:52753), an ossicle in the middle ear." xsd:string {xref="DDD:dfitzpatrick"} created_by: peter creation_date: 2012-03-19T09:40:02Z [Term] id: HP:0011455 name: Absent malleus def: "Aplasia of the malleus." [DDD:dfitzpatrick] is_a: HP:0011454 ! Abnormality of the malleus property_value: HP:0040005 "Aplasia of the `malleus` (FMA:52753)." xsd:string {xref="DDD:dfitzpatrick"} created_by: peter creation_date: 2012-03-19T09:40:08Z [Term] id: HP:0011456 name: Absent stapes def: "Aplasia of the stapes." [DDD:dfitzpatrick] is_a: HP:0008628 ! Abnormality of the stapes property_value: HP:0040005 "Aplasia of the `stapes` (FMA:52751)." xsd:string {xref="DDD:dfitzpatrick"} created_by: peter creation_date: 2012-03-19T09:42:52Z [Term] id: HP:0011457 name: Loss of eyelashes def: "This term refers to the loss of eyelashes that were previously present." [HPO:probinson] comment: Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions. synonym: "Ciliary Madarosis" EXACT [] synonym: "Milphosis" EXACT [] xref: UMLS:C0271321 "Madarosis" is_a: HP:0000499 ! Abnormality of the eyelashes created_by: peter creation_date: 2012-03-25T09:15:21Z [Term] id: HP:0011458 name: Abdominal symptom xref: UMLS:C0740651 "Abdominal symptom" is_a: HP:0001438 ! Abnormality of the abdomen created_by: peter creation_date: 2012-03-25T05:35:45Z [Term] id: HP:0011459 name: Esophageal carcinoma def: "The presence of a carcinoma of the esophagus." [DDD:hfirth] xref: UMLS:C0152018 "Esophageal carcinoma" is_a: HP:0100751 ! Esophageal neoplasm property_value: HP:0040005 "The presence of a `carcinoma` (MPATH:549) of the `esophagus` (FMA:7131)." xsd:string {xref="DDD:hfirth"} created_by: peter creation_date: 2012-03-25T06:55:07Z [Term] id: HP:0011460 name: Embryonal onset def: "Onset of disease at up to 8 weeks of gestation." [DDD:whouwehand] is_a: HP:0003577 ! Congenital onset created_by: peter creation_date: 2012-03-25T06:57:48Z [Term] id: HP:0011461 name: Fetal onset def: "Onset prior to birth but after 8 weeks of gestation." [DDD:whouwehand] is_a: HP:0003577 ! Congenital onset created_by: peter creation_date: 2012-03-25T06:58:21Z [Term] id: HP:0011462 name: Young adult onset def: "Onset of disease at the age of between 16 and 40 years." [DDD:hfirth] is_a: HP:0003581 ! Adult onset created_by: peter creation_date: 2012-03-25T07:01:15Z [Term] id: HP:0011463 name: Childhood onset alt_id: HP:0003586 alt_id: HP:0003617 def: "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] comment: This term refers to ages up to but not including the fifth birthday (see Juvenile onset). is_a: HP:0003674 ! Onset created_by: peter creation_date: 2012-03-25T07:16:20Z [Term] id: HP:0011464 name: Aganglionosis of the small intestine def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine." [DDD:hfirth] is_a: HP:0004362 ! Abnormality of the enteric ganglia created_by: peter creation_date: 2012-03-25T07:36:49Z [Term] id: HP:0011465 name: Duodenal aganglionosis def: "A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum." [DDD:hfirth] is_a: HP:0011464 ! Aganglionosis of the small intestine created_by: peter creation_date: 2012-03-25T07:38:12Z [Term] id: HP:0011466 name: Aplasia/Hypoplasia of the gallbladder def: "Absence or underdevelopment of the gallbladder." [HPO:probinson] is_a: HP:0012437 ! Abnormal gallbladder morphology property_value: HP:0040005 "Absence or underdevelopment of the `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-03-25T07:40:20Z [Term] id: HP:0011467 name: Absent gallbladder def: "A developmental defect in which the gallbladder fails to form." [DDD:hfirth] synonym: "Agenesis of the gallbladder" EXACT [] synonym: "Aplasia of the gallbladder" EXACT [] is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder property_value: HP:0040005 "A developmental defect in which the `gallbladder` (FMA:7202) fails to form." xsd:string {xref="DDD:hfirth"} created_by: peter creation_date: 2012-03-25T07:41:14Z [Term] id: HP:0011468 name: Facial tics def: "Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face." [DDD:cwright] is_a: HP:0005324 ! Disturbance of facial expression created_by: peter creation_date: 2012-03-25T07:45:47Z [Term] id: HP:0011469 name: Nasal regurgitation def: "Regurgitation of milk through the nose." [DDD:ncarter] is_a: HP:0008872 ! Feeding difficulties in infancy created_by: peter creation_date: 2012-03-25T07:52:19Z [Term] id: HP:0011470 name: Nasogastric tube feeding in infancy def: "Feeding problem necessitating nasogastric tube feeding." [DDD:ncarter] comment: This is a severe form of feeding problems in infancy. is_a: HP:0008872 ! Feeding difficulties in infancy created_by: peter creation_date: 2012-03-25T07:53:46Z [Term] id: HP:0011471 name: Gastrostomy tube feeding in infancy def: "Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] comment: This is an extremely severe form of feeding problems in infancy. synonym: "PEG-fed in infancy" RELATED [] is_a: HP:0008872 ! Feeding difficulties in infancy created_by: peter creation_date: 2012-03-25T10:00:00Z [Term] id: HP:0011472 name: Abnormality of small intestinal villus morphology is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2012-03-26T08:16:03Z [Term] id: HP:0011473 name: Villous atrophy def: "The enteric villi are atrophic or absent." [HPO:probinson] subset: hposlim_core synonym: "Atrophy of small intestinal villi" EXACT [] synonym: "BIOPSY SHOWS VILLOUS ATROPHY" RELATED [HPO:skoehler] synonym: "DUODENAL VILLOUS ATROPHY" RELATED [HPO:skoehler] synonym: "SMALL INTESTINE BIOPSY SHOWS VILLOUS ATROPHY" RELATED [HPO:skoehler] synonym: "VARIABLE DEGREE OF VILLOUS ATROPHY" RELATED [HPO:skoehler] xref: SNOMEDCT:275403002 "Villous atrophy" xref: UMLS:C0554101 "Villous atrophy" is_a: HP:0011472 ! Abnormality of small intestinal villus morphology created_by: peter creation_date: 2012-03-26T08:18:31Z [Term] id: HP:0011474 name: Childhood onset sensorineural hearing impairment def: "Sensorineural hearing impairment with childhood onset." [DDD:dfitzpatrick] is_a: HP:0000407 ! Sensorineural hearing impairment property_value: HP:0040005 "`Sensorineural hearing impairment` (HP:0008538) with childhood onset." xsd:string {xref="DDD:dfitzpatrick"} created_by: peter creation_date: 2012-03-30T07:18:09Z [Term] id: HP:0011475 name: Persistent stapedial artery def: "Persistence of the stapedial artery, which normally regresses during embryonic life." [DDD:mbitner-glidicz] is_a: HP:0008609 ! Morphological abnormality of the middle ear created_by: peter creation_date: 2012-03-31T08:38:23Z [Term] id: HP:0011476 name: Profound sensorineural hearing impairment def: "Complete loss of hearing related to a sensorineural defect." [DDD:dfitzpatrick] is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0012715 ! Profound hearing impairment created_by: peter creation_date: 2012-03-31T10:21:17Z [Term] id: HP:0011477 name: Upbeat nystagmus def: "In primary position the Upbeat nystagmus beats upward. The associated oscillopsias are often very irritating, but the symptoms are usually transient." [HPO:probinson, pmid:21505601] comment: In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy. is_a: HP:0010544 ! Vertical nystagmus created_by: peter creation_date: 2012-04-01T10:54:17Z [Term] id: HP:0011478 name: True anophthalmia def: "Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination." [DDD:ncarter] comment: True anophthalmia implies an early failure of eye development. is_a: HP:0000528 ! Anophthalmia created_by: peter creation_date: 2012-04-01T12:19:11Z [Term] id: HP:0011479 name: Abnormality of the lacrimal punctum def: "An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid." [HPO:probinson] is_a: HP:0000614 ! Abnormality of the nasolacrimal system property_value: HP:0040005 "An abnormality of the `lacrimal punctum` (FMA:59365), an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-01T09:08:05Z [Term] id: HP:0011480 name: Unilateral microphthalmos def: "A developmental anomaly characterized by abnormal smallness of one eye." [DDD:ncarter] is_a: HP:0000568 ! Microphthalmos created_by: peter creation_date: 2012-04-01T12:35:57Z [Term] id: HP:0011481 name: Abnormality of the lacrimal duct def: "An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." [HPO:probinson] synonym: "Abnormality of the lacrimal canaliculus." EXACT [] is_a: HP:0000614 ! Abnormality of the nasolacrimal system property_value: HP:0040005 "An abnormality of the ` lacrimal duct` (FMA:61063), a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-01T09:11:55Z [Term] id: HP:0011482 name: Abnormality of the lacrimal gland def: "Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye." [HPO:probinson] is_a: HP:0000614 ! Abnormality of the nasolacrimal system property_value: HP:0040005 "Abnormality of the `lacrimal gland` (FMA:59101), i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-01T09:35:54Z [Term] id: HP:0011483 name: Anterior synechiae of the anterior chamber def: "Adhesions between the iris and the cornea." [DDD:ncarter] synonym: "Anterior synechiae" EXACT [] synonym: "Cornea-iris adhesion" EXACT [] is_a: HP:0007833 ! Anterior chamber synechiae created_by: peter creation_date: 2012-04-02T08:50:23Z [Term] id: HP:0011484 name: Posterior synechiae of the anterior chamber def: "Adhesions between the iris and the lens." [DDD:ncarter] synonym: "Posterior synechiae" EXACT [] is_a: HP:0007833 ! Anterior chamber synechiae created_by: peter creation_date: 2012-04-02T08:50:59Z [Term] id: HP:0011485 name: Corneolenticular adhesion def: "Developmental abnormality in which the lens and cornea are not separated." [DDD:ncarter] is_a: HP:0000593 ! Abnormality of the anterior chamber created_by: peter creation_date: 2012-04-02T08:52:43Z [Term] id: HP:0011486 name: Abnormality of corneal thickness def: "An abnormal anteroposterior thickness of the cornea." [DDD:gblack] is_a: HP:0000481 ! Abnormality of the cornea created_by: peter creation_date: 2012-04-02T10:15:01Z [Term] id: HP:0011487 name: Increased corneal thickness def: "A increased anteroposterior thickness of the cornea." [HPO:probinson] is_a: HP:0011486 ! Abnormality of corneal thickness created_by: peter creation_date: 2012-04-02T10:17:35Z [Term] id: HP:0011488 name: Abnormality of corneal endothelium def: "Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea." [DDD:gblack] is_a: HP:0000481 ! Abnormality of the cornea property_value: HP:0040005 "Abnormality of the `corneal endothelium` (FMA:63882), that is, the single layer of cells on the inner surface of the cornea." xsd:string {xref="DDD:gblack"} created_by: peter creation_date: 2012-04-02T10:18:50Z [Term] id: HP:0011489 name: Abnormal migration of corneal endothelium def: "Abnormal migration of corneal endothelium." [DDD:ncarter] comment: Can be seen in posterior polymorphous corneal dystrophy. is_a: HP:0011488 ! Abnormality of corneal endothelium created_by: peter creation_date: 2012-04-02T10:20:17Z [Term] id: HP:0011490 name: Abnormality of Descemet's membrane def: "Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium." [DDD:gblack] is_a: HP:0011488 ! Abnormality of corneal endothelium created_by: peter creation_date: 2012-04-02T10:23:11Z [Term] id: HP:0011491 name: Reduced number of corneal endothelial cells def: "A reduction in the number of corneal endothelial cells." [DDD:ncarter] is_a: HP:0011488 ! Abnormality of corneal endothelium created_by: peter creation_date: 2012-04-02T10:24:23Z [Term] id: HP:0011492 name: Abnormality of corneal stroma def: "An abnormality of the stroma of cornea, also known as the substantia propria of cornea." [DDD:ncarter, HPO:probinson] is_a: HP:0000481 ! Abnormality of the cornea property_value: HP:0040005 "An abnormality of the `stroma of cornea` (FMA:58306), also known as the substantia propria of cornea." xsd:string {xref="DDD:ncarter", xref="HPO:probinson"} created_by: peter creation_date: 2012-04-02T10:28:49Z [Term] id: HP:0011493 name: Central opacification of the cornea def: "Reduced transparency of the central portion of the corneal stroma." [DDD:ncarter] is_a: HP:0007759 ! Opacification of the corneal stroma created_by: peter creation_date: 2012-04-02T10:36:22Z [Term] id: HP:0011494 name: Generalized opacification of the cornea def: "Generalized reduced transparency of the stroma of the cornea." [DDD:gblack] synonym: "Generalised opacification of the cornea" EXACT [] is_a: HP:0007759 ! Opacification of the corneal stroma created_by: peter creation_date: 2012-04-02T10:39:50Z [Term] id: HP:0011495 name: Abnormality of corneal epithelium def: "Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea." [DDD:gblack] is_a: HP:0000481 ! Abnormality of the cornea property_value: HP:0040005 "Abnormality of the `corneal epithelium` (FMA:58263), that is of the epithelial tissue that covers the front of the cornea." xsd:string {xref="DDD:gblack"} created_by: peter creation_date: 2012-04-03T07:10:49Z [Term] id: HP:0011496 name: Corneal neovascularization def: "Ingrowth of new blood vessels into the cornea." [DDD:ncarter, pmid:22898649] comment: New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders). synonym: "Corneal neovascularisation" EXACT [] synonym: "Corneal vascularization" EXACT [] xref: SNOMEDCT:19161004 "Corneal neovascularization" xref: UMLS:C0085109 "Corneal Neovascularization" is_a: HP:0000481 ! Abnormality of the cornea created_by: peter creation_date: 2012-04-03T07:15:37Z [Term] id: HP:0011497 name: Iris neovascularization def: "New growth of vessels on the surface of the iris." [DDD:ncarter] is_a: HP:0007905 ! Abnormal iris vasculature created_by: peter creation_date: 2012-04-03T07:32:43Z [Term] id: HP:0011498 name: Partial aniridia def: "Sectoral aplasia of the iris." [DDD:gblack] is_a: HP:0000526 ! Aniridia created_by: peter creation_date: 2012-04-03T07:38:24Z [Term] id: HP:0011499 name: Mydriasis def: "Abnormal dilatation of the iris." [DDD:ncarter] subset: hposlim_core xref: MeSH:D015878 "Mydriasis" xref: UMLS:C0026961 "Mydriasis" is_a: HP:0007686 ! Abnormal pupillary function created_by: peter creation_date: 2012-04-03T07:49:21Z [Term] id: HP:0011500 name: Polycoria def: "Multiple pupils." [DDD:ncarter] is_a: HP:0000615 ! Abnormality of the pupil created_by: peter creation_date: 2012-04-04T07:19:56Z [Term] id: HP:0011501 name: Anterior lenticonus def: "A conical projection of the anterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack] is_a: HP:0001142 ! Lenticonus created_by: peter creation_date: 2012-04-04T07:54:36Z [Term] id: HP:0011502 name: Posterior lenticonus def: "A conical projection of the posterior surface of the lens, occurring as a developmental anomaly." [DDD:gblack] is_a: HP:0001142 ! Lenticonus created_by: peter creation_date: 2012-04-04T07:55:12Z [Term] id: HP:0011503 name: Aplasia of the fovea def: "Congenital absence of the fovea." [HPO:probinson] comment: Aplasia of the fovea can occur in aniridia and albinism. is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea created_by: peter creation_date: 2012-04-06T08:40:21Z [Term] id: HP:0011504 name: Bull's eye maculopathy def: "Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation." [DDD:gblack] is_a: HP:0008002 ! Abnormality of macular pigmentation created_by: peter creation_date: 2012-04-06T08:57:53Z [Term] id: HP:0011505 name: Cystoid macular edema def: "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter] comment: CME can occur with Irvine-Gass syndrome and other disorders. synonym: "Cystoid macular oedema" EXACT [] is_a: HP:0040049 ! Macular edema created_by: peter creation_date: 2012-04-06T09:12:59Z [Term] id: HP:0011506 name: Choroidal neovascularization of the macula def: "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [DDD:ncarter] comment: This is a common symptom of the degenerative maculopathy wet age-related macular degeneration. is_a: HP:0001103 ! Abnormality of the macula created_by: peter creation_date: 2012-04-06T09:28:46Z [Term] id: HP:0011507 name: Macular flecks def: "Pale often indistinct lesions of the macula." [DDD:gblack] is_a: HP:0001103 ! Abnormality of the macula created_by: peter creation_date: 2012-04-06T09:38:42Z [Term] id: HP:0011508 name: Macular hole def: "A macular hole is a small break in the macula, located in the center of the retina." [DDD:ncarter] is_a: HP:0001103 ! Abnormality of the macula is_a: HP:0011958 ! Retinal perforation created_by: peter creation_date: 2012-04-06T09:39:58Z [Term] id: HP:0011509 name: Macular hyperpigmentation def: "Increased amount of pigmentation in the macula lutea." [DDD:ncarter] is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: HP:0040005 "Increased amount of pigmentation in the `macula lutea` (FMA:58637)." xsd:string {xref="DDD:ncarter"} created_by: peter creation_date: 2012-04-06T09:52:11Z [Term] id: HP:0011510 name: Drusen def: "Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye." [DDD:gblack] is_a: HP:0001103 ! Abnormality of the macula created_by: peter creation_date: 2012-04-06T09:54:42Z [Term] id: HP:0011511 name: Macular schisis def: "Splitting of the retina in the macular region." [DDD:gblack] comment: This abnormality can be seen in X-linked retinoschisis. is_a: HP:0001103 ! Abnormality of the macula created_by: peter creation_date: 2012-04-06T09:55:43Z [Term] id: HP:0011512 name: Hyperpigmentation of the fundus def: "Increased amount of pigmentation of the retina." [DDD:ncarter] synonym: "Hyperpigmented fundi" EXACT [] synonym: "Hyperpigmented fundus" EXACT [] is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium created_by: peter creation_date: 2012-04-06T10:34:11Z [Term] id: HP:0011513 name: Retinal cavernous angioma def: "A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance." [HPO:probinson, pmid:20844673] comment: The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance. is_a: HP:0007797 ! Retinal vascular malformation created_by: peter creation_date: 2012-04-06T04:12:54Z [Term] id: HP:0011514 name: Abnormality of binocular vision def: "An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth." [DDD:ncarter] is_a: HP:0000504 ! Abnormality of vision created_by: peter creation_date: 2012-04-06T06:00:34Z [Term] id: HP:0011515 name: Abnormal stereopsis def: "Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head." [DDD:gblack] is_a: HP:0011514 ! Abnormality of binocular vision created_by: peter creation_date: 2012-04-06T06:03:49Z [Term] id: HP:0011516 name: Rod monochromacy def: "A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult." [DDD:gblack] is_a: HP:0007803 ! Monochromacy created_by: peter creation_date: 2012-04-06T06:40:03Z [Term] id: HP:0011517 name: Cone monochromacy def: "The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors." [DDD:ncarter] comment: There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy. is_a: HP:0007803 ! Monochromacy created_by: peter creation_date: 2012-04-06T06:40:33Z [Term] id: HP:0011518 name: Dichromacy def: "Individuals affected by dichromacy possess only two types of cones, instead of three." [HPO:probinson] comment: The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing. is_a: HP:0007641 ! Dyschromatopsia created_by: peter creation_date: 2012-04-06T06:46:27Z [Term] id: HP:0011519 name: Anomalous trichromacy def: "Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones." [HPO:probinson] comment: Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions. is_a: HP:0007641 ! Dyschromatopsia created_by: peter creation_date: 2012-04-06T06:57:10Z [Term] id: HP:0011520 name: Deuteranomoly def: "A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green." [HPO:probinson] comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011519 ! Anomalous trichromacy created_by: peter creation_date: 2012-04-06T07:14:19Z [Term] id: HP:0011521 name: Deuteranopia def: "Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green." [DDD:gblack] comment: Blue and red cones only; no functional green cones. is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011518 ! Dichromacy created_by: peter creation_date: 2012-04-06T07:34:40Z [Term] id: HP:0011522 name: Protanopia def: "Blue and green cones only; no functional red cones." [DDD:gblack] is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011518 ! Dichromacy created_by: peter creation_date: 2012-04-06T07:45:06Z [Term] id: HP:0011523 name: Iris cyst def: "An iris cyst is composed of a single cell layer of epithelium and is filled with fluid." [DDD:gblack] is_a: HP:0000525 ! Abnormality of the iris created_by: peter creation_date: 2012-04-06T09:05:29Z [Term] id: HP:0011524 name: Iris melanoma def: "Malignant tumor of melanocytes affecting the iris." [DDD:ncarter] is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0007716 ! Intraocular melanoma created_by: peter creation_date: 2012-04-06T09:06:41Z [Term] id: HP:0011525 name: Iris nevus def: "A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated." [DDD:ncarter] is_a: HP:0000525 ! Abnormality of the iris created_by: peter creation_date: 2012-04-06T09:11:42Z [Term] id: HP:0011526 name: Abnormality of lens shape def: "An abnormal shape of the lens." [HPO:probinson] is_a: HP:0000517 ! Abnormality of the lens property_value: HP:0040005 "An abnormal shape of the `lens` (FMA:58241)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-06T09:16:11Z [Term] id: HP:0011527 name: Lentiglobus def: "Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging." [DDD:gblack] subset: hposlim_core is_a: HP:0011526 ! Abnormality of lens shape created_by: peter creation_date: 2012-04-06T09:17:01Z [Term] id: HP:0011528 name: Single isolated congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance." [DDD:gblack] synonym: "Single isolated CHRPE" EXACT [] is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium created_by: peter creation_date: 2012-04-06T09:24:44Z [Term] id: HP:0011529 name: Multiple bilateral congenital hypertrophy of retinal pigment epithelium def: "Sharply demarcated hyperpigmentation which is congenital." [DDD:gblack] comment: Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli. synonym: "Multiple bilateral CHRPE" EXACT [] is_a: HP:0007649 ! Congenital hypertrophy of retinal pigment epithelium created_by: peter creation_date: 2012-04-06T09:25:33Z [Term] id: HP:0011530 name: Retinal hole def: "A small break in the retina." [HPO:probinson] comment: A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field. is_a: HP:0011958 ! Retinal perforation created_by: peter creation_date: 2012-04-06T09:39:01Z [Term] id: HP:0011531 name: Vitreitis def: "Inflammation of the vitreous body." [HPO:probinson] subset: hposlim_core is_a: HP:0004327 ! Abnormality of the vitreous humor created_by: peter creation_date: 2012-04-07T08:21:01Z [Term] id: HP:0011532 name: Subretinal exudate def: "A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] is_a: HP:0001147 ! Retinal exudate created_by: peter creation_date: 2012-04-07T09:21:46Z [Term] id: HP:0011533 name: Snowflake retinal degeneration def: "The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous." [DDD:ncarter] is_a: HP:0007769 ! Peripheral retinal degeneration created_by: peter creation_date: 2012-04-07T09:52:37Z [Term] id: HP:0011534 name: Abnormal spatial orientation of the cardiac segments is_a: HP:0002564 ! Malformation of the heart and great vessels created_by: peter creation_date: 2012-04-07T10:27:48Z [Term] id: HP:0011535 name: Abnormal atrial arrangement def: "Abnormality of the spatial relationship of the atria to other components of the heart." [DDD:dbrown] is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T10:31:16Z [Term] id: HP:0011536 name: Right atrial isomerism def: "Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest." [DDD:dbrown, pmid:3408620] is_a: HP:0011535 ! Abnormal atrial arrangement created_by: peter creation_date: 2012-04-07T10:36:52Z [Term] id: HP:0011537 name: Left atrial isomerism def: "In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest." [DDD:dbrown, pmid:3408620] comment: Left and right hand side atria have left atrial morphology. xref: EPCC:03.01.05 xref: ICD-10:Q20.6 is_a: HP:0011535 ! Abnormal atrial arrangement created_by: peter creation_date: 2012-04-07T10:37:51Z [Term] id: HP:0011538 name: Atrial situs inversus def: "Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side." [DDD:dbrown] xref: EPCC:03.01.03 xref: ICD-10:Q89.3 is_a: HP:0011535 ! Abnormal atrial arrangement created_by: peter creation_date: 2012-04-07T10:40:16Z [Term] id: HP:0011539 name: Atrial situs ambiguous def: "Common atrium without defining morphologic features." [DDD:dbrown] is_a: HP:0011535 ! Abnormal atrial arrangement created_by: peter creation_date: 2012-04-07T10:43:42Z [Term] id: HP:0011540 name: Congenitally corrected transposition of the great arteries def: "The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta." [DDD:dbrown, pmid:21569592] synonym: "L-transposition" RELATED [] synonym: "Ventricular inversion" RELATED [] xref: EPCC:01.01.03 xref: ICD-10:Q20.5 is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments is_a: HP:0011603 ! Congenital malformation of the great arteries created_by: peter creation_date: 2012-04-07T10:48:56Z [Term] id: HP:0011541 name: Criss-cross atrioventricular valves def: "Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis." [DDD:dbrown, HPO:probinson] is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T10:51:57Z [Term] id: HP:0011542 name: Criss-cross atrioventricular valves with superior-inferior ventricles is_a: HP:0011541 ! Criss-cross atrioventricular valves created_by: peter creation_date: 2012-04-07T10:55:06Z [Term] id: HP:0011543 name: Superior-inferior ventricles without criss-cross atrioventricular valves is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T10:56:21Z [Term] id: HP:0011544 name: L-looping of the right ventricle is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments created_by: peter creation_date: 2012-04-07T11:20:04Z [Term] id: HP:0011545 name: Abnormal connection of the cardiac segments is_a: HP:0002564 ! Malformation of the heart and great vessels created_by: peter creation_date: 2012-04-07T11:24:25Z [Term] id: HP:0011546 name: Abnormal atrioventricular connection def: "An abnormality of the circulatory connection between atria and ventricles." [DDD:dbrown] is_a: HP:0011545 ! Abnormal connection of the cardiac segments created_by: peter creation_date: 2012-04-07T11:27:57Z [Term] id: HP:0011547 name: Absent left sided atrioventricular connection is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:30:16Z [Term] id: HP:0011548 name: Absent right sided atrioventricular connection is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:30:44Z [Term] id: HP:0011549 name: Univentricular heart with absent left sided atrioventricular connection is_a: HP:0011547 ! Absent left sided atrioventricular connection created_by: peter creation_date: 2012-04-07T11:31:18Z [Term] id: HP:0011550 name: Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection is_a: HP:0011547 ! Absent left sided atrioventricular connection created_by: peter creation_date: 2012-04-07T11:32:09Z [Term] id: HP:0011551 name: Right sided atrium to left ventricle and absent left sided atrioventricular connection is_a: HP:0011547 ! Absent left sided atrioventricular connection created_by: peter creation_date: 2012-04-07T11:32:53Z [Term] id: HP:0011552 name: Ambiguous atrioventricular connection def: "With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle)." [DDD:dbrown, HPO:probinson] is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:33:24Z [Term] id: HP:0011553 name: Discordant atrioventricular connection def: "Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart." [DDD:dbrown, HPO:probinson] is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:47:06Z [Term] id: HP:0011554 name: Double inlet atrioventricular connection def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve." [DDD:dbrown, HPO:probinson] xref: EPCC:01.01.14 xref: ICD-10:Q20.4 is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T11:49:32Z [Term] id: HP:0011555 name: Double inlet left ventricle def: "The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual." [DDD:dbrown, HPO:probinson] xref: EPCC:01.04.04 xref: ICD-10:Q20.4 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection created_by: peter creation_date: 2012-04-07T11:53:33Z [Term] id: HP:0011556 name: Double inlet right ventricle def: "The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic." [DDD:dbrown, HPO:probinson] xref: EPCC:01.04.03 xref: ICD-10:Q20.4 is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection created_by: peter creation_date: 2012-04-07T11:57:14Z [Term] id: HP:0011557 name: Double inlet to single ventricle of indeterminate morphology def: "The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle." [DDD:dbrown, HPO:probinson] is_a: HP:0001750 ! Single ventricle is_a: HP:0011554 ! Double inlet atrioventricular connection created_by: peter creation_date: 2012-04-07T12:00:21Z [Term] id: HP:0011558 name: Double inlet to single ventricle with common atrioventricular orifice is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology created_by: peter creation_date: 2012-04-07T12:02:03Z [Term] id: HP:0011559 name: Double inlet to single ventricle with two atrioventricular valves is_a: HP:0011557 ! Double inlet to single ventricle of indeterminate morphology created_by: peter creation_date: 2012-04-07T12:02:15Z [Term] id: HP:0011560 name: Mitral atresia def: "A congenital defect with failure to open of the mitral valve orifice." [DDD:dbrown] synonym: "Mitral valve atresia" EXACT [] xref: EPCC:06.02.01 xref: ICD-10:Q23.2 is_a: HP:0001633 ! Abnormality of the mitral valve is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T12:04:11Z [Term] id: HP:0011561 name: Overriding atrioventricular valve def: "An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect." [DDD:dbrown, HPO:probinson] is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T12:09:28Z [Term] id: HP:0011562 name: Straddling atrioventricular valve def: "Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect." [DDD:dbrown, HPO:probinson] is_a: HP:0011546 ! Abnormal atrioventricular connection created_by: peter creation_date: 2012-04-07T12:13:57Z [Term] id: HP:0011563 name: Abnormal ventriculo-arterial connection is_a: HP:0011545 ! Abnormal connection of the cardiac segments created_by: peter creation_date: 2012-04-08T07:32:38Z [Term] id: HP:0011564 name: Mitral valve arcade def: "Anomalous mitral valve arcade is diagnosed b ased on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle." [DDD:dbrown, pmid:20404264] synonym: "Hammock mitral valve" EXACT [] is_a: HP:0001633 ! Abnormality of the mitral valve created_by: peter creation_date: 2012-04-08T10:03:28Z [Term] id: HP:0011565 name: Common atrium def: "Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections." [DDD:dbrown, HPO:probinson] xref: ICD-10:Q21.2 is_a: HP:0005120 ! Abnormality of cardiac atrium created_by: peter creation_date: 2012-04-08T07:50:05Z [Term] id: HP:0011566 name: Cor triatriatum dexter def: "A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue." [DDD:dbrown, HPO:probinson, pmid:17948095] comment: Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side. is_a: HP:0005120 ! Abnormality of cardiac atrium created_by: peter creation_date: 2012-04-08T08:02:56Z [Term] id: HP:0011567 name: Sinus venosus atrial septal defect def: "An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting." [DDD:dbrown, HPO:probinson, pmid:16172274] xref: ICD-10:Q21.1 is_a: HP:0001631 ! Defect in the atrial septum created_by: peter creation_date: 2012-04-08T08:15:24Z [Term] id: HP:0011568 name: Double orifice mitral valve def: "The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue." [DDD:dbrown, HPO:probinson, pmid:20851840] comment: In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal. is_a: HP:0001633 ! Abnormality of the mitral valve created_by: peter creation_date: 2012-04-08T08:29:48Z [Term] id: HP:0011569 name: Cleft anterior mitral valve leaflet def: "Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect." [DDD:dbrown, pmid:6829465] is_a: HP:0001653 ! Mitral regurgitation created_by: peter creation_date: 2012-04-08T08:40:46Z [Term] id: HP:0011570 name: Congenital mitral stenosis def: "Mitral stenosis with congenital onset." [DDD:dbrown] is_a: HP:0001718 ! Mitral stenosis created_by: peter creation_date: 2012-04-08T08:46:46Z [Term] id: HP:0011571 name: Parachute mitral valve def: "Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles." [DDD:dbrown] is_a: HP:0001718 ! Mitral stenosis created_by: peter creation_date: 2012-04-08T08:47:46Z [Term] id: HP:0011572 name: Supramitral ring def: "A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve." [DDD:dbrown] synonym: "Membranous supravalvular mitral stenosis" EXACT [] synonym: "Supravalvular mitral ring" EXACT [] is_a: HP:0001718 ! Mitral stenosis created_by: peter creation_date: 2012-04-08T08:49:07Z [Term] id: HP:0011573 name: Hypoplastic tricuspid valve def: "Congenital defect characterized by underdevelopment of the tricuspid valve." [DDD:dbrown] is_a: HP:0001702 ! Abnormality of the tricuspid valve created_by: peter creation_date: 2012-04-08T10:22:38Z [Term] id: HP:0011574 name: Imperforate atrioventricular valve def: "An atrioventricular valve that has failed to open (atretic)." [DDD:dbrown] is_a: HP:0006705 ! Abnormality of the atrioventricular valves created_by: peter creation_date: 2012-04-08T10:35:25Z [Term] id: HP:0011575 name: Imperforate tricuspid valve def: "An tricuspid valve that has failed to open (atretic)." [DDD:dbrown] is_a: HP:0001702 ! Abnormality of the tricuspid valve is_a: HP:0011574 ! Imperforate atrioventricular valve created_by: peter creation_date: 2012-04-08T10:37:55Z [Term] id: HP:0011576 name: Intermediate atrioventricular canal defect def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices." [DDD:dbrown] is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T10:56:04Z [Term] id: HP:0011577 name: Partial atrioventricular canal defect def: "A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices." [DDD:dbrown] is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T10:57:14Z [Term] id: HP:0011578 name: Transitional atrioventricular canal defect def: "A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices." [DDD:dbrown] is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T10:58:47Z [Term] id: HP:0011579 name: Unbalanced atrioventricular canal defect def: "Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced)." [DDD:dbrown, pmid:20837915] synonym: "Unbalanced atrioventricular septal defect" EXACT [] is_a: HP:0006695 ! Atrioventricular canal defect created_by: peter creation_date: 2012-04-08T11:02:44Z [Term] id: HP:0011580 name: Short chordae tendineae of the mitral valve def: "Abnormally short chordae tendineae of the mitral valve." [HPO:probinson] comment: The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart. is_a: HP:0001633 ! Abnormality of the mitral valve property_value: HP:0040005 "Abnormally short `chordae tendineae` (FMA:76527) of the mitral valve." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-08T12:01:44Z [Term] id: HP:0011581 name: Double outlet left ventricle def: "A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle." [HPO:probinson] xref: ICD-10:Q20.2 is_a: HP:0001711 ! Abnormality of the left ventricle created_by: peter creation_date: 2012-04-08T12:37:48Z [Term] id: HP:0011582 name: Abdominal ectopia cordis def: "Displacement of the heart outside the thoracic cavity and into the abdomen." [DDD:dbrown] is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:10:32Z [Term] id: HP:0011583 name: Cervical ectopia cordis def: "A type of ectopia cordis with the heart partially in the cervical region and withouta defect of the sternum." [DDD:dbrown, HPO:probinson] comment: This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck. is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:11:40Z [Term] id: HP:0011584 name: Thoracocervical ectopia cordis def: "A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum." [DDD:dbrown, HPO:probinson] is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:12:42Z [Term] id: HP:0011585 name: Thoracic ectopia cordis def: "Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum." [DDD:dbrown, HPO:probinson] is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:13:18Z [Term] id: HP:0011586 name: Thoracoabdominal ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity." [DDD:dbrown, HPO:probinson, pmid:19479716] comment: In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell. is_a: HP:0001683 ! Ectopia cordis created_by: peter creation_date: 2012-04-08T01:13:52Z [Term] id: HP:0011587 name: Abnormal branching pattern of the aortic arch def: "A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries." [DDD:dbrown] comment: The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring. is_a: HP:0012303 ! Abnormality of the aortic arch created_by: peter creation_date: 2012-04-08T01:34:42Z [Term] id: HP:0011588 name: Cervical aortic arch def: "The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta." [DDD:dbrown] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T01:37:51Z [Term] id: HP:0011589 name: Common origin of the right brachiocephalic artery and left common carotid artery def: "The left common carotid artery has a common origin with the innominate artery." [DDD:dbrown, HPO:probinson, pmid:17138027] comment: Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery. synonym: "Bovine arch" RELATED [] synonym: "Common brachiocephalic trunk" EXACT [] synonym: "Ovine arch" RELATED [] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T01:38:36Z [Term] id: HP:0011590 name: Double aortic arch def: "A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor)." [DDD:dbrown, HPO:probinson, pmid:15148283, pmid:15564538] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T01:46:10Z [Term] id: HP:0011591 name: Left aortic arch with cervical origin of the right subclavian artery is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T01:57:40Z [Term] id: HP:0011592 name: Left aortic arch with isolated subclavian artery def: "The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis." [DDD:dbrown] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T02:01:39Z [Term] id: HP:0011593 name: Left aortic arch with retroesophageal diverticulum of Kommerell def: "A patent ductus arteriosus or ductal ligament completes the ring." [DDD:dbrown] synonym: "Kommerell diverticulum" EXACT [] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T02:02:42Z [Term] id: HP:0011594 name: Right aortic arch with retroesophageal diverticulum of Kommerell def: "Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch." [DDD:dbrown, pmid:12075866] is_a: HP:0012020 ! Right aortic arch created_by: peter creation_date: 2012-04-08T02:07:10Z [Term] id: HP:0011595 name: Left aortic arch with retroesophageal right subclavian artery def: "Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body." [DDD:dbrown] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T02:09:39Z [Term] id: HP:0011596 name: Left aortic arch with right descending aorta and right ductus arteriosus def: "The ring may be completed by the ductal ligament." [DDD:dbrown] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-04-08T02:10:48Z [Term] id: HP:0011597 name: Right aortic arch with left descending aorta and left ductus arteriosus is_a: HP:0012020 ! Right aortic arch created_by: peter creation_date: 2012-04-08T02:23:47Z [Term] id: HP:0011598 name: Right aortic arch with retroesophageal left subclavian artery synonym: "Right aortic arch with aberrant left subclavian artery" EXACT [] synonym: "Right aortic arch with anomalous left subclavian artery" EXACT [] is_a: HP:0012020 ! Right aortic arch created_by: peter creation_date: 2012-04-08T02:27:16Z [Term] id: HP:0011599 name: Mesocardia def: "Mesocardia is a abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane." [DDD:dbrown, HPO:probinson] is_a: HP:0004307 ! Abnormal anatomic location of the heart created_by: peter creation_date: 2012-04-08T02:41:36Z [Term] id: HP:0011600 name: Abnormal direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex. Left sided is normal." [DDD:dbrown] is_a: HP:0004307 ! Abnormal anatomic location of the heart created_by: peter creation_date: 2012-04-08T02:44:41Z [Term] id: HP:0011601 name: Rightward direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal." [DDD:dbrown] is_a: HP:0011600 ! Abnormal direction of ventricular apex created_by: peter creation_date: 2012-04-08T02:46:32Z [Term] id: HP:0011602 name: Midline direction of ventricular apex def: "Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal." [DDD:dbrown] is_a: HP:0011600 ! Abnormal direction of ventricular apex created_by: peter creation_date: 2012-04-08T02:47:52Z [Term] id: HP:0011603 name: Congenital malformation of the great arteries is_a: HP:0002564 ! Malformation of the heart and great vessels created_by: peter creation_date: 2012-04-08T02:51:09Z [Term] id: HP:0011604 name: Aortopulmonary window def: "A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt." [DDD:dbrown, HPO:probinson] is_a: HP:0011603 ! Congenital malformation of the great arteries created_by: peter creation_date: 2012-04-08T02:52:38Z [Term] id: HP:0011605 name: Congenitally corrected transposition of the great arteries with ventricular septal defect is_a: HP:0011540 ! Congenitally corrected transposition of the great arteries created_by: peter creation_date: 2012-04-08T02:55:06Z [Term] id: HP:0011606 name: Transposition of the great arteries with intact ventricular septum synonym: "TGA IVS" EXACT [] is_a: HP:0001669 ! Transposition of the great arteries created_by: peter creation_date: 2012-04-08T02:57:22Z [Term] id: HP:0011607 name: Transposition of the great arteries with ventricular septal defect synonym: "TGA VSD" EXACT [] is_a: HP:0001669 ! Transposition of the great arteries created_by: peter creation_date: 2012-04-08T02:58:37Z [Term] id: HP:0011608 name: Type II truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Type 2 truncus arteriosus" EXACT [] is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2012-04-08T03:03:51Z [Term] id: HP:0011609 name: Type III truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Type 3 truncus arteriosus" EXACT [] is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2012-04-08T03:08:53Z [Term] id: HP:0011610 name: Type IV truncus arteriosus def: "Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present." [DDD:dbrown, HPO:probinson] comment: According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect. synonym: "Type 4 truncus arteriosus" EXACT [] is_a: HP:0001660 ! Truncus arteriosus created_by: peter creation_date: 2012-04-08T03:11:07Z [Term] id: HP:0011611 name: Interrupted aortic arch alt_id: HP:0006680 def: "Non-continuity of the arch of aorta with an atretic point or absent segment." [DDD:dbrown] synonym: "Atretic transverse aortic arch" EXACT [] is_a: HP:0012303 ! Abnormality of the aortic arch property_value: HP:0040005 "Non-continuity of the `arch of aorta`(FMA:3768) with an atretic point or absent segment." xsd:string {xref="DDD:dbrown"} created_by: peter creation_date: 2012-04-08T03:17:10Z [Term] id: HP:0011612 name: Interrupted aortic arch type A def: "Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus." [DDD:dbrown] is_a: HP:0011611 ! Interrupted aortic arch created_by: peter creation_date: 2012-04-08T03:18:18Z [Term] id: HP:0011613 name: Interrupted aortic arch type B def: "Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries." [DDD:dbrown] is_a: HP:0011611 ! Interrupted aortic arch created_by: peter creation_date: 2012-04-08T03:18:58Z [Term] id: HP:0011614 name: Interrupted aortic arch type C def: "Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries." [DDD:dbrown] is_a: HP:0011611 ! Interrupted aortic arch created_by: peter creation_date: 2012-04-08T03:19:48Z [Term] id: HP:0011615 name: Abnormality of pulmonary situs def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi." [DDD:dbrown] is_a: HP:0012252 ! Abnormal respiratory system morphology created_by: peter creation_date: 2012-04-08T09:20:13Z [Term] id: HP:0011616 name: Pulmonary situs inversus def: "Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus." [DDD:dbrown] is_a: HP:0011615 ! Abnormality of pulmonary situs created_by: peter creation_date: 2012-04-08T09:23:21Z [Term] id: HP:0011617 name: Pulmonary situs ambiguus def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same." [DDD:dbrown] is_a: HP:0011615 ! Abnormality of pulmonary situs created_by: peter creation_date: 2012-04-08T09:24:21Z [Term] id: HP:0011618 name: Pulmonary situs ambiguus with bilateral morphologic right lungs def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lungs." [DDD:dbrown, HPO:probinson] is_a: HP:0011617 ! Pulmonary situs ambiguus created_by: peter creation_date: 2012-04-08T09:25:35Z [Term] id: HP:0011619 name: Pulmonary situs ambiguus with bilateral morphologic left lungs def: "An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung." [DDD:dbrown] is_a: HP:0011617 ! Pulmonary situs ambiguus created_by: peter creation_date: 2012-04-08T09:26:18Z [Term] id: HP:0011620 name: Abnormality of abdominal situs def: "An abnormality of the abdominal situs, i.e., of the sidedness of the abdomin and its organs." [DDD:dbrown] is_a: HP:0001438 ! Abnormality of the abdomen created_by: peter creation_date: 2012-04-08T09:30:05Z [Term] id: HP:0011621 name: Gerbode ventricular septal defect def: "A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve." [DDD:dbrown, pmid:19561249] comment: Echocardiography may visualize a jet across a small defect between left ventricle and right atrium. synonym: "Left ventricular - right atrial communication" RELATED [] is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-08T09:34:01Z [Term] id: HP:0011622 name: Inlet ventricular septal defect def: ".A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus." [DDD:dbrown, pmid:17101870] comment: The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically. synonym: "Atrioventricular canal type ventricular septal defect" EXACT [] synonym: "Type 3 ventricular septal defect" EXACT [] is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-08T09:38:29Z [Term] id: HP:0011623 name: Muscular ventricular septal defect def: "The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle." [DDD:dbrown, pmid:17101870] synonym: "Type 4 ventricular septal defect" EXACT [] synonym: "VENTRICULAR SEPTAL DEFECT, MUSCULAR" RELATED [HPO:skoehler] is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-08T09:43:15Z [Term] id: HP:0011624 name: Apical muscular ventricular septal defect def: "A muscular ventricular septal defect located at the apex of the heart." [DDD:dbrown] is_a: HP:0011623 ! Muscular ventricular septal defect created_by: peter creation_date: 2012-04-08T09:45:43Z [Term] id: HP:0011625 name: Multiple muscular ventricular septal defects is_a: HP:0011623 ! Muscular ventricular septal defect created_by: peter creation_date: 2012-04-08T09:49:03Z [Term] id: HP:0011626 name: Scimitar anomaly def: "Right pulmonary venous return to the inferior vena cava." [DDD:dbrown, pmid:16638549] synonym: "Scimitar syndrome" EXACT [] xref: ICD-10:Q26.8 xref: MeSH:D012587 "Scimitar Syndrome" is_a: HP:0010773 ! Partial anomalous pulmonary venous return created_by: peter creation_date: 2012-04-08T09:57:11Z [Term] id: HP:0011627 name: Aorto-ventricular tunnel def: "Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle." [pmid:17922908] is_a: HP:0001679 ! Abnormality of the aorta created_by: peter creation_date: 2012-04-09T08:29:49Z [Term] id: HP:0011628 name: Congenital defect of the pericardium def: "A developmental defect of the pericardium with congenital onset." [DDD:dbrown] is_a: HP:0001697 ! Abnormality of the pericardium property_value: HP:0040005 "A developmental defect of the `pericardium` (FMA:9869) with congenital onset." xsd:string {xref="DDD:dbrown"} created_by: peter creation_date: 2012-04-08T10:05:20Z [Term] id: HP:0011629 name: Total absence of the pericardium def: "No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy." [DDD:dbrown] is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:06:22Z [Term] id: HP:0011630 name: Complete diaphragmatic absence of pericardium def: "No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [DDD:dbrown] is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:06:57Z [Term] id: HP:0011631 name: Complete right sided absence of pericardium def: "No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy." [DDD:dbrown] is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:08:42Z [Term] id: HP:0011632 name: Partial right sided absence of pericardium def: "A congenital anomaly with lack of part of the pericardium on the righthand side of the heart." [DDD:dbrown] comment: A congenital anomaly and not the result of a pericardectomy. is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:09:24Z [Term] id: HP:0011633 name: Complete left sided absence of pericardium def: "A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart." [DDD:dbrown] comment: A congenital anomaly and not the result of a pericardectomy. is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:11:03Z [Term] id: HP:0011634 name: Partial left sided absence of pericardium def: "A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart." [DDD:dbrown] comment: A congenital anomaly and not the result of a pericardectomy. is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:11:59Z [Term] id: HP:0011635 name: Partial diaphragmatic absence of pericardium def: "Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart." [DDD:dbrown] is_a: HP:0011628 ! Congenital defect of the pericardium created_by: peter creation_date: 2012-04-08T10:13:04Z [Term] id: HP:0011636 name: Abnormal origin of the coronary arteries def: "Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries." [DDD:dbrown] is_a: HP:0006704 ! Abnormality of the coronary arteries created_by: peter creation_date: 2012-04-09T08:32:24Z [Term] id: HP:0011637 name: Anomalous origin of coronary artery from the pulmonary artery def: "A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta." [DDD:dbrown, HPO:probinson] is_a: HP:0011636 ! Abnormal origin of the coronary arteries created_by: peter creation_date: 2012-04-09T08:33:57Z [Term] id: HP:0011638 name: Anomalous origin of left coronary artery from the pulmonary artery def: "Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve." [DDD:dbrown, HPO:probinson] is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery created_by: peter creation_date: 2012-04-09T08:40:53Z [Term] id: HP:0011639 name: Anomalous origin of right coronary artery from the pulmonary artery def: "Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve." [DDD:dbrown, HPO:probinson] is_a: HP:0011637 ! Anomalous origin of coronary artery from the pulmonary artery created_by: peter creation_date: 2012-04-09T08:41:05Z [Term] id: HP:0011640 name: Single coronary artery origin def: "The presence of a single coronary artery ostium from which both coronary arteries arise." [DDD:dbrown, HPO:probinson, pmid:4547578] is_a: HP:0011636 ! Abnormal origin of the coronary arteries created_by: peter creation_date: 2012-04-09T08:44:38Z [Term] id: HP:0011641 name: Coronary artery fistula def: "A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel." [DDD:dbrown, HPO:probinson, pmid:20513726] comment: Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas. is_a: HP:0006704 ! Abnormality of the coronary arteries created_by: peter creation_date: 2012-04-09T08:54:51Z [Term] id: HP:0011642 name: Abnormality of the coronary sinus def: "An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium." [DDD:dbrown, HPO:probinson] is_a: HP:0005120 ! Abnormality of cardiac atrium property_value: HP:0040005 "An abnormality of the `coronary sinus` (FMA:4706), which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium." xsd:string {xref="DDD:dbrown", xref="HPO:probinson"} created_by: peter creation_date: 2012-04-09T09:02:09Z [Term] id: HP:0011643 name: Coronary sinus atrial septal defect def: "An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus." [DDD:dbrown, HPO:probinson, pmid:18806021] xref: ICD-10:Q21.1 is_a: HP:0011642 ! Abnormality of the coronary sinus created_by: peter creation_date: 2012-04-09T09:07:42Z [Term] id: HP:0011644 name: Coronary sinus diverticulum def: "A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus." [DDD:dbrown, pmid:3138904] synonym: "Diverticulum of the coronary sinus" EXACT [] is_a: HP:0011642 ! Abnormality of the coronary sinus created_by: peter creation_date: 2012-04-09T09:12:28Z [Term] id: HP:0011645 name: Sinus of Valsalva aneurysm is_a: HP:0002631 ! Ascending aortic aneurysm created_by: peter creation_date: 2012-04-09T09:31:57Z [Term] id: HP:0011646 name: Juxtaductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch." [DDD:dbrown, HPO:probinson] comment: Juxtaductal coarctation usually presents when the ductus arteriosus closes. is_a: HP:0012305 ! Coarctation of the descending aortic arch property_value: HP:0040005 "Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the `juxtaductal region of aortic arch` (FMA:3778)." xsd:string {xref="DDD:dbrown", xref="HPO:probinson"} created_by: peter creation_date: 2012-04-09T09:41:05Z [Term] id: HP:0011647 name: Postductal coarctation of the aorta def: "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch." [DDD:dbrown] comment: Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues. synonym: "Postductal aortic coarctation" EXACT [] is_a: HP:0012305 ! Coarctation of the descending aortic arch property_value: HP:0040005 "Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the `postductal region of aortic arch` (FMA:3776)." xsd:string {xref="DDD:dbrown"} created_by: peter creation_date: 2012-04-09T09:49:36Z [Term] id: HP:0011648 name: Patent ductus arteriosus after birth at term def: "Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater." [DDD:dbrown] is_a: HP:0001643 ! Patent ductus arteriosus created_by: peter creation_date: 2012-04-09T09:58:35Z [Term] id: HP:0011649 name: Patent ductus arteriosus after premature birth def: "Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation." [DDD:dbrown] is_a: HP:0001643 ! Patent ductus arteriosus created_by: peter creation_date: 2012-04-09T09:59:59Z [Term] id: HP:0011650 name: Bilateral ductus arteriosus def: "The presence of both a left and a right ductus arteriosus." [DDD:dbrown] is_a: HP:0001643 ! Patent ductus arteriosus created_by: peter creation_date: 2012-04-09T10:00:51Z [Term] id: HP:0011651 name: Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:02:22Z [Term] id: HP:0011652 name: Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:05:46Z [Term] id: HP:0011653 name: Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:06:15Z [Term] id: HP:0011654 name: Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:06:32Z [Term] id: HP:0011655 name: Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:06:46Z [Term] id: HP:0011656 name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:07:00Z [Term] id: HP:0011657 name: Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:07:16Z [Term] id: HP:0011658 name: Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis is_a: HP:0001719 ! Double outlet right ventricle created_by: peter creation_date: 2012-04-09T10:07:31Z [Term] id: HP:0011659 name: Tetralogy of Fallot with absent pulmonary valve def: "Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue." [DDD:dbrown] synonym: "Tetralogy of Fallot with absent pulmonary valve syndrome" EXACT [] is_a: HP:0001636 ! Tetralogy of Fallot is_a: HP:0005134 ! Absence of the pulmonary valve created_by: peter creation_date: 2012-04-09T10:15:04Z [Term] id: HP:0011660 name: Anomalous origin of one pulmonary artery from ascending aorta def: "Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle." [DDD:dbrown, pmid:2590592] comment: Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle. synonym: "Hemitruncus" EXACT [] is_a: HP:0004414 ! Abnormality of the pulmonary artery created_by: peter creation_date: 2012-04-09T10:34:29Z [Term] id: HP:0011661 name: Anomalous origin of left pulmonary artery from ascending aorta def: "The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery." [DDD:dbrown] is_a: HP:0011660 ! Anomalous origin of one pulmonary artery from ascending aorta created_by: peter creation_date: 2012-04-09T10:42:23Z [Term] id: HP:0011662 name: Tricuspid atresia def: "Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle." [DDD:dbrown, HPO:probinson] xref: EPCC:06.01.01 xref: ICD-10:Q22.4 xref: MeSH:D018785 "Tricuspid Atresia" is_a: HP:0001702 ! Abnormality of the tricuspid valve created_by: peter creation_date: 2012-04-09T10:45:29Z [Term] id: HP:0011663 name: Right ventricular cardiomyopathy def: "Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease." [HPO:probinson, pmid:17916581] comment: This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria. synonym: "CARDIOMYOPATHY, ESP. RIGHT VENTRICULAR" RELATED [HPO:skoehler] synonym: "CARDIOMYOPATHY, RIGHT VENTRICULAR" EXACT [HPO:skoehler] is_a: HP:0001638 ! Cardiomyopathy created_by: peter creation_date: 2012-04-09T11:14:59Z [Term] id: HP:0011664 name: Left ventricular noncompaction cardiomyopathy def: "Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates." [pmid:17916581] comment: Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development. synonym: "Left ventricular non-compaction cardiomyopathy" EXACT [] is_a: HP:0012817 ! Noncompaction cardiomyopathy created_by: peter creation_date: 2012-04-09T11:31:40Z [Term] id: HP:0011665 name: Takotsubo cardiomyopathy def: "Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation." [pmid:17916581] xref: MeSH:D054549 "Takotsubo Cardiomyopathy" is_a: HP:0001638 ! Cardiomyopathy created_by: peter creation_date: 2012-04-09T11:39:40Z [Term] id: HP:0011666 name: Absent right superior vena cava def: "Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium." [DDD:dbrown, pmid:17578953, pmid:19808620, pmid:20532458] comment: The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck. is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T11:43:46Z [Term] id: HP:0011667 name: Bilateral superior vena cava with bridging vein is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:00:46Z [Term] id: HP:0011668 name: Bilateral superior vena cava with no bridging vein is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:01:33Z [Term] id: HP:0011669 name: Left superior vena cava draining directly to the left atrium is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:02:06Z [Term] id: HP:0011670 name: Left superior vena cava draining to coronary sinus xref: ICD-10:Q26.1 is_a: HP:0005301 ! Persistent left superior vena cava created_by: peter creation_date: 2012-04-09T12:02:58Z [Term] id: HP:0011671 name: Interrupted inferior vena cava with azygous continuation def: "Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava." [DDD:dbrown, pmid:10550884] xref: ICD-10:26.8 is_a: HP:0005345 ! Abnormality of the vena cava created_by: peter creation_date: 2012-04-09T12:04:06Z [Term] id: HP:0011672 name: Cardiac myxoma def: "A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber." [HPO:probinson, pmid:7477198] is_a: HP:0100544 ! Neoplasm of the heart created_by: peter creation_date: 2012-04-09T12:10:35Z [Term] id: HP:0011673 name: Cardiac hemangioma def: "Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium." [DDD:dbrown] is_a: HP:0001028 ! Hemangioma is_a: HP:0100544 ! Neoplasm of the heart created_by: peter creation_date: 2012-04-09T12:20:13Z [Term] id: HP:0011674 name: Cardiac teratoma def: "A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone." [HPO:probinson, pmid:17331235] is_a: HP:0009792 ! Teratoma is_a: HP:0100544 ! Neoplasm of the heart created_by: peter creation_date: 2012-04-09T12:33:29Z [Term] id: HP:0011675 name: Arrhythmia alt_id: HP:0001656 alt_id: HP:0001661 alt_id: HP:0001665 alt_id: HP:0001666 alt_id: HP:0001687 alt_id: HP:0001721 alt_id: HP:0004351 alt_id: HP:0005158 def: "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792] synonym: "Abnormal electrocardiogram" EXACT [] synonym: "Abnormality of cardiac conduction" EXACT [] synonym: "Arrhythmias" EXACT [] synonym: "Cardiac arrhythmia" EXACT [] synonym: "Cardiac arrhythmias" EXACT [] synonym: "Cardiac conduction abnormalities" EXACT [] synonym: "Cardiac conduction defects" EXACT [] synonym: "Cardiac rhythm disturbances" EXACT [] synonym: "ECG abnormality" EXACT [] synonym: "Ekg abnormalities" EXACT [] synonym: "EKG abnormality" EXACT [] synonym: "Electrocardiographic changes" EXACT [] synonym: "Heart rhythm disorders" EXACT [] synonym: "Irregular heart beat" EXACT [] synonym: "Irregular heartbeat" EXACT [] xref: MeSH:D001145 "Arrhythmias, Cardiac" xref: UMLS:C0237314 "Irregular Heartbeat" xref: UMLS:C0855329 "Electrocardiographic changes" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology created_by: peter creation_date: 2012-04-09T12:47:32Z [Term] id: HP:0011676 name: Tetralogy of Fallot with absent subarterial conus is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2012-04-10T07:40:33Z [Term] id: HP:0011677 name: Tetralogy of Fallot with atrioventricular canal defect is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2012-04-10T07:41:53Z [Term] id: HP:0011678 name: Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries def: "A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA)." [HPO:probinson, pmid:22368654] comment: Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery. is_a: HP:0012516 ! Tetralogy of Fallot with pulmonary atresia created_by: peter creation_date: 2012-04-10T07:43:01Z [Term] id: HP:0011679 name: Tetralogy of Fallot with pulmonary stenosis def: "The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus." [HPO:probinson] is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2012-04-10T07:44:06Z [Term] id: HP:0011680 name: Single ventricle of indeterminate morphology is_a: HP:0001750 ! Single ventricle created_by: peter creation_date: 2012-04-10T08:02:28Z [Term] id: HP:0011681 name: Subarterial ventricular septal defect def: "A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum." [DDD:dbrown, pmid:10798413] synonym: "Conal ventricular septal defect" EXACT [] synonym: "Doubly committed ventricular septal defect" EXACT [] synonym: "Infundibular ventricular septal defect" EXACT [] synonym: "Supracristal ventricular septal defect" EXACT [] synonym: "Type 1 ventricular septal defect" EXACT [] is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:09:32Z [Term] id: HP:0011682 name: Perimembranous ventricular septal defect def: "A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs." [DDD:dbrown, pmid:10798413] synonym: "Conoventricular ventricular septal defect" EXACT [] synonym: "Membranous ventricular septal defect" EXACT [] synonym: "Paramembranous ventricular septal defect" EXACT [] synonym: "Type 2 ventricular septal defect" EXACT [] synonym: "VENTRICULAR SEPTAL DEFECT, PERIMEMBRANOUS" RELATED [HPO:skoehler] is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:21:13Z [Term] id: HP:0011683 name: Restrictive ventricular septal defect def: "Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD." [DDD:dbrown, pmid:10798413] comment: This term can be used in addition to another term describing the morphology of a VSD. is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:26:59Z [Term] id: HP:0011684 name: Non-restrictive ventricular septal defect def: "Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD." [DDD:dbrown] comment: This term can be used in addition to another term describing the morphology of a VSD. is_a: HP:0001629 ! Ventricular septal defect created_by: peter creation_date: 2012-04-10T08:29:05Z [Term] id: HP:0011685 name: Infra-aortic superior vena cava def: "The superior vena cava passes below the aortic arch." [DDD:dbrown] comment: The superior vena cava normally crosses superior and anterior to the aorta. is_a: HP:0005345 ! Abnormality of the vena cava created_by: peter creation_date: 2012-04-10T08:36:00Z [Term] id: HP:0011686 name: Abnormal coronary artery course def: "An abnormal path of a coronary artery." [DDD:dbrown] synonym: "Anomalous coronary artery course" RELATED [] is_a: HP:0006704 ! Abnormality of the coronary arteries created_by: peter creation_date: 2012-04-10T08:37:35Z [Term] id: HP:0011687 name: AV nodal tachycardia def: "A type of supraventricular tachycardia that originates in the atrioventricular node." [DDD:dbrown] synonym: "Atrioventricular nodal tachycardia" EXACT [] is_a: HP:0004755 ! Supraventricular tachycardia created_by: peter creation_date: 2012-04-10T08:45:26Z [Term] id: HP:0011688 name: Supraventricular tachycardia with an accessory connection mediated pathway synonym: "Atrioventricular re-entry tachycardia" EXACT [] is_a: HP:0004755 ! Supraventricular tachycardia created_by: peter creation_date: 2012-04-10T10:33:56Z [Term] id: HP:0011689 name: Supraventricular tachycardia with a concealed accessory connection is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway created_by: peter creation_date: 2012-04-10T10:35:31Z [Term] id: HP:0011690 name: Permanent junctional reciprocating tachycardia is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:36:06Z [Term] id: HP:0011691 name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:36:49Z [Term] id: HP:0011692 name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:37:37Z [Term] id: HP:0011693 name: Supraventricular tachycardia with a concealed accessory pathway on the septum is_a: HP:0011689 ! Supraventricular tachycardia with a concealed accessory connection created_by: peter creation_date: 2012-04-10T10:38:07Z [Term] id: HP:0011694 name: Supraventricular tachycardia with a manifest accessory pathway is_a: HP:0011688 ! Supraventricular tachycardia with an accessory connection mediated pathway created_by: peter creation_date: 2012-04-10T10:38:53Z [Term] id: HP:0011695 name: Cerebellar hemorrhage def: "Hemorrhage into the parenchyma of the cerebellum." [HPO:probinson] is_a: HP:0002170 ! Intracranial hemorrhage property_value: HP:0040005 "`Hemorrhage` (MPATH:119) into the parenchyma of the cerebellum." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-10T10:46:25Z [Term] id: HP:0011696 name: Supraventricular tachycardia with a manifest accessory pathway on the left free wall is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway created_by: peter creation_date: 2012-04-10T10:57:34Z [Term] id: HP:0011697 name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway created_by: peter creation_date: 2012-04-10T10:59:00Z [Term] id: HP:0011698 name: Supraventricular tachycardia with a manifest accessory pathway on the septum is_a: HP:0011694 ! Supraventricular tachycardia with a manifest accessory pathway created_by: peter creation_date: 2012-04-10T10:59:45Z [Term] id: HP:0011699 name: Atrial reentry tachycardia is_a: HP:0001692 ! Primary atrial arrhythmia created_by: peter creation_date: 2012-04-10T11:15:27Z [Term] id: HP:0011700 name: Automatic atrial tachycardia is_a: HP:0001692 ! Primary atrial arrhythmia created_by: peter creation_date: 2012-04-10T11:19:33Z [Term] id: HP:0011701 name: Multifocal atrial tachycardia synonym: "Ectopic atrial tachycardia" EXACT [] xref: UMLS:C0221158 "Multifocal atrial tachycardia" is_a: HP:0001692 ! Primary atrial arrhythmia created_by: peter creation_date: 2012-04-10T11:20:13Z [Term] id: HP:0011702 name: Abnormal electrophysiology of sinoatrial node origin def: "An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart." [HPO:probinson] is_a: HP:0011675 ! Arrhythmia created_by: peter creation_date: 2012-04-10T11:22:43Z [Term] id: HP:0011703 name: Sinus tachycardia def: "Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands." [HPO:probinson, pmid:15763524] synonym: "Inappropriate sinus tachycardia" EXACT [] xref: MeSH:D013616 "Tachycardia, Sinus" xref: UMLS:C0039239 "Sinus tachycardia" is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin created_by: peter creation_date: 2012-04-10T11:30:45Z [Term] id: HP:0011704 name: Sick sinus syndrome xref: MeSH:D012804 "Sick sinus syndrome" xref: UMLS:C0037052 "Sick sinus syndrome" is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin is_a: HP:0012722 ! Heart block created_by: peter creation_date: 2012-04-10T11:31:17Z [Term] id: HP:0011705 name: First degree atrioventricular block def: "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." [DDD:dbrown, HPO:probinson] comment: The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children. is_a: HP:0001678 ! Atrioventricular block created_by: peter creation_date: 2012-04-11T07:17:18Z [Term] id: HP:0011706 name: Second degree atrioventricular block def: "An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction." [DDD:dbrown, HPO:probinson] is_a: HP:0001678 ! Atrioventricular block created_by: peter creation_date: 2012-04-11T07:22:35Z [Term] id: HP:0011707 name: Mobitz I atrioventricular block def: "Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals)." [DDD:dbrown, HPO:probinson] comment: Mobitz I atrioventricular block is associated with a normal QRS duration. synonym: "Mobitz type 1 atrioventricular block" EXACT [] synonym: "Wenckebach block" EXACT [] is_a: HP:0011706 ! Second degree atrioventricular block created_by: peter creation_date: 2012-04-11T07:25:17Z [Term] id: HP:0011708 name: Mobitz II atrioventricular block def: "A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval." [DDD:dbrown, HPO:probinson] comment: Mobitz I atrioventricular block is usually associated with a prolonged QRS duration. synonym: "Mobitz type 2 atrioventricular block" EXACT [] is_a: HP:0011706 ! Second degree atrioventricular block created_by: peter creation_date: 2012-04-11T07:34:09Z [Term] id: HP:0011709 name: Atrioventricular dissociation def: "Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur is the absence of a primary AV conduction disturbance." [HPO:probinson] comment: Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it. is_a: HP:0005150 ! Abnormal atrioventricular conduction created_by: peter creation_date: 2012-04-11T07:46:37Z [Term] id: HP:0011710 name: Bundle branch block def: "Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches." [DDD:dbrown, HPO:probinson] comment: The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. THe Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex. synonym: "Bundle-branch block" EXACT [] xref: MeSH:D002037 "Bundle-Branch Block" xref: UMLS:C0006384 "Bundle branch block" is_a: HP:0005150 ! Abnormal atrioventricular conduction is_a: HP:0012722 ! Heart block created_by: peter creation_date: 2012-04-11T07:55:50Z [Term] id: HP:0011711 name: Left anterior fascicular block def: "Conduction block in the anterior division of the left bundle branch of the bundle of His." [DDD:dbrown] synonym: "Left anterior hemiblock" EXACT [] is_a: HP:0011713 ! Left bundle branch block created_by: peter creation_date: 2012-04-11T08:02:03Z [Term] id: HP:0011712 name: Right bundle branch block def: "A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG." [DDD:dbrown, HPO:probinson] synonym: "Right bundle-branch block" EXACT [] xref: UMLS:C0085615 "Bundle branch block right" is_a: HP:0011710 ! Bundle branch block created_by: peter creation_date: 2012-04-11T08:02:08Z [Term] id: HP:0011713 name: Left bundle branch block def: "A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG." [DDD:dbrown, HPO:probinson] xref: UMLS:C0023211 "Bundle branch block left" is_a: HP:0011710 ! Bundle branch block created_by: peter creation_date: 2012-04-11T08:04:34Z [Term] id: HP:0011714 name: Libman-Sacks lesions def: "Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve." [pmid:18421506] comment: Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus. is_a: HP:0100584 ! Endocarditis created_by: peter creation_date: 2012-04-11T10:11:39Z [Term] id: HP:0011715 name: Trifascicular block def: "Abnormal conduction in all three divisions of the intraventricular conducting tissue." [DDD:dbrown] is_a: HP:0011710 ! Bundle branch block created_by: peter creation_date: 2012-04-11T08:10:14Z [Term] id: HP:0011716 name: Junctional ectopic tachycardia xref: MeSH:D013613 "Junctional Ectopic Tachycardia" is_a: HP:0011687 ! AV nodal tachycardia created_by: peter creation_date: 2012-04-11T08:42:28Z [Term] id: HP:0011717 name: AV nodal reentry tachycardia is_a: HP:0011687 ! AV nodal tachycardia created_by: peter creation_date: 2012-04-11T08:42:52Z [Term] id: HP:0011718 name: Abnormality of the pulmonary veins def: "An abnormality of the pulmonary veins." [HPO:probinson] comment: The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium. is_a: HP:0004930 ! Abnormality of the pulmonary vasculature property_value: HP:0040005 "An abnormality of the `pulmonary veins` (FMA:70827)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-11T08:45:48Z [Term] id: HP:0011719 name: Supracardiac total anomalous pulmonary venous connection def: "Type 1 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Type 1 total anomalous pulmonary venous connection" EXACT [] is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:50:39Z [Term] id: HP:0011720 name: Cardiac total anomalous pulmonary venous connection def: "Type 2 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Type 2 total anomalous pulmonary venous connection" EXACT [] is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:51:32Z [Term] id: HP:0011721 name: Infracardiac total anomalous pulmonary venous connection def: "Type 3 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Type 3 total anomalous pulmonary venous connection" EXACT [] is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:52:28Z [Term] id: HP:0011722 name: Mixed total anomalous pulmonary venous connection def: "Type 4 total anomalous pulmonary venous connection." [DDD:dbrown] synonym: "Type 4 total anomalous pulmonary venous connection" EXACT [] is_a: HP:0005160 ! Total anomalous pulmonary venous return created_by: peter creation_date: 2012-04-11T08:53:37Z [Term] id: HP:0011723 name: Congenital malformation of the right heart is_a: HP:0002564 ! Malformation of the heart and great vessels created_by: peter creation_date: 2012-04-11T08:56:19Z [Term] id: HP:0011724 name: Uhl's anomaly is_a: HP:0011723 ! Congenital malformation of the right heart created_by: peter creation_date: 2012-04-11T08:59:07Z [Term] id: HP:0011725 name: Chaotic multifocal atrial tachycardia is_a: HP:0001692 ! Primary atrial arrhythmia created_by: peter creation_date: 2012-04-11T09:01:14Z [Term] id: HP:0011726 name: Persistent fetal circulation def: "Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course." [DDD:dbrown] is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2012-04-11T09:02:26Z [Term] id: HP:0011727 name: Peroneal muscle weakness def: "Weakness of the peroneal muscles." [HPO:probinson] comment: THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side. is_a: HP:0009053 ! Distal lower limb muscle weakness created_by: peter creation_date: 2012-04-11T10:26:15Z [Term] id: HP:0011728 name: Elbow clonus def: "Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint." [HPO:probinson] is_a: HP:0002169 ! Clonus created_by: peter creation_date: 2012-04-17T08:56:48Z [Term] id: HP:0011729 name: Abnormality of joint mobility def: "An abnormality in the range and ease of motion of joints across their normal range." [HPO:probinson] is_a: HP:0001367 ! Abnormal joint morphology created_by: peter creation_date: 2012-04-18T07:09:28Z [Term] id: HP:0011730 name: Abnormality of central sensory function def: "An abnormality of cortical sensation. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function usually indicates a lesion of a parietal cortex or of the thalamocortical projections to the parietal cortex." [HPO:probinson] is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2012-04-19T07:44:18Z [Term] id: HP:0011731 name: Abnormality of circulating cortisol level def: "An abnormality of the concentration of cortisol in the blood." [HPO:probinson] is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level property_value: HP:0040005 "An abnormality of the concentration of `cortisol` (CHEBI:17650) in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-21T07:59:26Z [Term] id: HP:0011732 name: Abnormality of adrenal morphology def: "Any structural anomaly of the adrenal glands." [HPO:probinson] is_a: HP:0000834 ! Abnormality of the adrenal glands property_value: HP:0040005 "Any structural anomaly of the `adrenal glands` (FMA:9604)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-21T08:04:29Z [Term] id: HP:0011733 name: Abnormality of adrenal physiology alt_id: HP:0002855 def: "A functional abnormality of the adrenal glands." [HPO:probinson] is_a: HP:0000834 ! Abnormality of the adrenal glands property_value: HP:0040005 "A functional abnormality of the `adrenal glands` (FMA:9604)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-21T08:05:42Z [Term] id: HP:0011734 name: Central adrenal insufficiency def: "A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected." [DDD:spark] synonym: "Secondary adrenal insufficiency" EXACT [] is_a: HP:0000846 ! Adrenal insufficiency created_by: peter creation_date: 2012-04-21T08:26:19Z [Term] id: HP:0011735 name: Adrenocorticotropin (ACTH) deficient adrenal insufficiency def: "Adrenal insufficiency secondary to a defect in ACTH production." [DDD:spark] is_a: HP:0011734 ! Central adrenal insufficiency created_by: peter creation_date: 2012-04-21T09:06:46Z [Term] id: HP:0011736 name: Primary hyperaldosteronism def: "A form of hyperaldosteronism caused by a defect within the adrenal gland." [DDD:spark] is_a: HP:0000859 ! Hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:26:05Z [Term] id: HP:0011737 name: Corticotropin-releasing hormone (CRH) deficient adrenal insufficiency def: "Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production." [DDD:spark] synonym: "Tertiary adrenal insufficiency" EXACT [] is_a: HP:0011734 ! Central adrenal insufficiency created_by: peter creation_date: 2012-04-21T09:09:56Z [Term] id: HP:0011738 name: Corticotropin-releasing hormone receptor (CRHR) defect def: "Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor." [DDD:spark] synonym: "Corticotropin-releasing hormone receptor (CRHR) resistance" RELATED [] is_a: HP:0011734 ! Central adrenal insufficiency created_by: peter creation_date: 2012-04-21T09:11:04Z [Term] id: HP:0011739 name: Dexamethasone-suppresible primary hyperaldosteronism def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [DDD:spark, HPO:probinson] synonym: "Familial primary hyperaldosteronism type 1" RELATED [] synonym: "Glucocorticoid-remediable familial primary aldosteronism" RELATED [] is_a: HP:0011736 ! Primary hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:27:36Z [Term] id: HP:0011740 name: Glucocortocoid-insensitive primary hyperaldosteronism def: "A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids." [DDD:spark, HPO:probinson] synonym: "Familial primary hyperaldosteronism type 2" RELATED [] is_a: HP:0011736 ! Primary hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:29:51Z [Term] id: HP:0011741 name: Secondary hyperaldosteronism def: "A form of hyperaldosteronism caused by abnormally increased renin levels." [DDD:spark] synonym: "Hyperreninemic hyperaldosteronism" EXACT [] is_a: HP:0000859 ! Hyperaldosteronism created_by: peter creation_date: 2012-04-21T09:32:28Z [Term] id: HP:0011742 name: Ectopic adrenal gland def: "Abnormal anatomical location of the adrenal gland." [DDD:spark] is_a: HP:0011732 ! Abnormality of adrenal morphology created_by: peter creation_date: 2012-04-21T09:45:15Z [Term] id: HP:0011743 name: Adrenal gland agenesis def: "Absent development of the adrenal gland." [DDD:spark] is_a: HP:0008216 ! Adrenal gland dysgenesis created_by: peter creation_date: 2012-04-21T09:46:49Z [Term] id: HP:0011744 name: Secondary hypercorticolism def: "Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol." [HPO:probinson] synonym: "ACTH-dependent hypercortisolemia" RELATED [] is_a: HP:0001578 ! Hypercortisolism created_by: peter creation_date: 2012-04-21T11:46:27Z [Term] id: HP:0011745 name: Non-secretory adrenocortical adenoma def: "An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones." [DDD:spark] synonym: "Non-secretory adrenal adenoma" EXACT [] is_a: HP:0008256 ! Adrenocortical adenoma created_by: peter creation_date: 2012-04-21T11:55:18Z [Term] id: HP:0011746 name: Secretory adrenocortical adenoma def: "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [DDD:spark] synonym: "Secretory adrenal adenoma" EXACT [] is_a: HP:0008256 ! Adrenocortical adenoma created_by: peter creation_date: 2012-04-21T11:58:38Z [Term] id: HP:0011747 name: Abnormality of the anterior pituitary def: "An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [DDD:spark] synonym: "Pituitary disease" RELATED [] is_a: HP:0012503 ! Abnormality of the pituitary gland property_value: HP:0040005 "An abnormality of the `adenohypophysis` (FMA:74627), which is also known as the anterior lobe of the pituitary gland." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T11:17:00Z [Term] id: HP:0011748 name: Adrenocorticotropic hormone deficiency def: "A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol." [DDD:spark] synonym: "ACTH deficiency" EXACT [] synonym: "Corticotropin deficiency" EXACT [] is_a: HP:0000830 ! Anterior hypopituitarism created_by: peter creation_date: 2012-04-22T11:27:04Z [Term] id: HP:0011749 name: Adrenocorticotropic hormone excess def: "Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex." [DDD:spark] comment: This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744. synonym: "ACTH excess" EXACT [] is_a: HP:0010514 ! Hyperpituitarism created_by: peter creation_date: 2012-04-22T01:09:54Z [Term] id: HP:0011750 name: Neoplasm of the anterior pituitary def: "A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland." [DDD:spark] xref: MeSH:D010911 "Pituitary Neoplasms" is_a: HP:0011747 ! Abnormality of the anterior pituitary is_a: HP:0100568 ! Neoplasm of the endocrine system property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) (tumour) in the `adenohypophysis` (FMA:74627), which is also known as the anterior lobe of the pituitary gland." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T01:18:46Z [Term] id: HP:0011751 name: Abnormality of the posterior pituitary def: "An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark, HPO:probinson] is_a: HP:0012503 ! Abnormality of the pituitary gland property_value: HP:0040005 "An abnormality of the `neurohypophysis` (FMA:74628), which is also known as the posterior lobe of the hypophysis." xsd:string {xref="DDD:spark", xref="HPO:probinson"} created_by: peter creation_date: 2012-04-22T01:20:33Z [Term] id: HP:0011752 name: Neoplasm of the posterior pituitary def: "The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis." [DDD:spark] is_a: HP:0011751 ! Abnormality of the posterior pituitary property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) (tumour) in the `neurohypophysis` (FMA:74628), which is also known as the posterior lobe of the hypophysis." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T01:31:18Z [Term] id: HP:0011753 name: Posterior pituitary dysgenesis def: "Abnormal development of the neurohypophysis during embryonic growth and development." [DDD:spark] synonym: "Posterior pituitary dysplasia" EXACT [] is_a: HP:0011751 ! Abnormality of the posterior pituitary property_value: HP:0040005 "Abnormal development of the `neurohypophysis` (FMA:74628) during embryonic growth and development." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T01:42:04Z [Term] id: HP:0011754 name: Pituicytoma def: "A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern." [DDD:spark, pmid:17618441, pmid:19109577] xref: ICD-O:9432/1 "Pituicytoma" is_a: HP:0011752 ! Neoplasm of the posterior pituitary created_by: peter creation_date: 2012-04-22T01:34:00Z [Term] id: HP:0011755 name: Ectopic posterior pituitary def: "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." [DDD:spark, HPO:probinson] is_a: HP:0011753 ! Posterior pituitary dysgenesis property_value: HP:0040005 "An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the `neurohypophysis` (FMA:74628). The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis." xsd:string {xref="DDD:spark", xref="HPO:probinson"} created_by: peter creation_date: 2012-04-22T01:43:25Z [Term] id: HP:0011756 name: Posterior pituitary agenesis def: "Absence of the neurohypophysis owing to a developmental defect." [DDD:spark] is_a: HP:0011753 ! Posterior pituitary dysgenesis property_value: HP:0040005 "Absence of the `neurohypophysis` (FMA:74628) owing to a developmental defect." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T01:55:35Z [Term] id: HP:0011757 name: Posterior pituitary hypoplasia def: "Underdevelopment of the neurohypophysis." [DDD:spark] is_a: HP:0011753 ! Posterior pituitary dysgenesis property_value: HP:0040005 "Underdevelopment of the `neurohypophysis` (FMA:74628)." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T01:56:23Z [Term] id: HP:0011758 name: Pituitary acidophilic stem cell adenoma is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:03:47Z [Term] id: HP:0011759 name: Pituitary gonadotropic cell adenoma def: "A type of pituitary adenoma that produces gonadotropins." [DDD:spark] synonym: "Pituitary gonadotropinoma" EXACT [] is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:37:35Z [Term] id: HP:0011760 name: Pituitary growth hormone cell adenoma def: "A type of pituitary adenoma that produces grwoth hormone." [DDD:spark] synonym: "Pituitary somatotropinoma" EXACT [] is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:38:10Z [Term] id: HP:0011761 name: Pituitary null cell adenoma def: "A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess." [DDD:spark] synonym: "Clinically silent pituitary adenoma" EXACT [] synonym: "Hormonally silent pituitary adenoma" EXACT [] synonym: "Non-functional pituitary adenoma" EXACT [] synonym: "Silent pituitary adenoma" EXACT [] is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:39:00Z [Term] id: HP:0011762 name: Pituitary thyrotropic cell adenoma def: "A type of pituitary adenoma that produces thyroid stimulating hormone (TSH)." [DDD:spark] synonym: "Pituitary thyrotropinoma" EXACT [] is_a: HP:0002893 ! Pituitary adenoma created_by: peter creation_date: 2012-04-22T03:42:08Z [Term] id: HP:0011763 name: Pituitary carcinoma def: "A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS." [DDD:spark, pmid:15741248] xref: MeSH:D010911 "Pituitary Neoplasms" is_a: HP:0011750 ! Neoplasm of the anterior pituitary created_by: peter creation_date: 2012-04-22T03:52:30Z [Term] id: HP:0011764 name: Pituitary spindle cell oncocytoma def: "A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular." [DDD:spark, pmid:21886889] is_a: HP:0011750 ! Neoplasm of the anterior pituitary created_by: peter creation_date: 2012-04-22T03:57:01Z [Term] id: HP:0011765 name: obsolete Ectopic anterior pituitary def: "An abnormal anatomical location of the anterior lobe of the hypophysis, also known as the adenohypophysis." [DDD:spark] property_value: HP:0040005 "An abnormal anatomical location of the anterior lobe of the hypophysis, also known as the `adenohypophysis` (FMA:74627)." xsd:string {xref="DDD:spark"} is_obsolete: true replaced_by: HP:0012731 created_by: peter creation_date: 2012-04-22T04:03:37Z [Term] id: HP:0011766 name: Abnormality of the parathyroid morphology def: "A structural abnormality of the parathyroid gland." [DDD:spark, HPO:probinson] is_a: HP:0000828 ! Abnormality of the parathyroid gland property_value: HP:0040005 "A structural abnormality of the `parathyroid gland` (FMA:13890)." xsd:string {xref="DDD:spark", xref="HPO:probinson"} created_by: peter creation_date: 2012-04-22T04:08:26Z [Term] id: HP:0011767 name: Abnormality of the parathyroid physiology def: "A functional abnormality of the parathyroid gland." [DDD:spark, HPO:probinson] is_a: HP:0000828 ! Abnormality of the parathyroid gland property_value: HP:0040005 "A functional abnormality of the `parathyroid gland` (FMA:13890)." xsd:string {xref="DDD:spark", xref="HPO:probinson"} created_by: peter creation_date: 2012-04-22T04:09:13Z [Term] id: HP:0011768 name: Parathyroid dysgenesis def: "Abnormal embryonic development of the parathyroid gland." [DDD:spark] is_a: HP:0011766 ! Abnormality of the parathyroid morphology property_value: HP:0040005 "Abnormal embryonic development of the `parathyroid gland` (FMA:13890)." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T04:20:41Z [Term] id: HP:0011769 name: Ectopic parathyroid def: "An abnormal anatomical location of the parathyroid gland." [DDD:spark] is_a: HP:0011768 ! Parathyroid dysgenesis property_value: HP:0040005 "An abnormal anatomical location of the `parathyroid gland` (FMA:13890)." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T04:22:26Z [Term] id: HP:0011770 name: Tertiary hyperparathyroidism def: "A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism." [DDD:spark] is_a: HP:0000843 ! Hyperparathyroidism created_by: peter creation_date: 2012-04-22T04:38:20Z [Term] id: HP:0011771 name: Autoimmune hypoparathyroidism def: "A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity." [DDD:spark, pmid:19328421] is_a: HP:0000829 ! Hypoparathyroidism created_by: peter creation_date: 2012-04-22T04:54:37Z [Term] id: HP:0011772 name: Abnormality of thyroid morphology def: "A structural abnormality of the thyroid gland." [DDD:spark] is_a: HP:0000820 ! Abnormality of the thyroid gland property_value: HP:0040005 "A structural abnormality of the `thyroid gland` (FMA:9603)." xsd:string {xref="DDD:spark"} created_by: peter creation_date: 2012-04-22T05:54:57Z [Term] id: HP:0011773 name: Uninodular goiter def: "Enlargement of the thyroid gland related to a singular nodule in the thyroid gland." [DDD:spark] is_a: HP:0005994 ! Nodular goiter created_by: peter creation_date: 2012-04-22T05:56:30Z [Term] id: HP:0011774 name: Thyroid follicular adenoma is_a: HP:0000854 ! Thyroid adenoma created_by: peter creation_date: 2012-04-22T06:01:31Z [Term] id: HP:0011775 name: Thyroid macrofollicular adenoma is_a: HP:0011774 ! Thyroid follicular adenoma created_by: peter creation_date: 2012-04-22T06:01:42Z [Term] id: HP:0011776 name: Thyroid microfollicular adenoma is_a: HP:0011774 ! Thyroid follicular adenoma created_by: peter creation_date: 2012-04-22T06:01:48Z [Term] id: HP:0011777 name: Thyroid papillary adenoma is_a: HP:0000854 ! Thyroid adenoma created_by: peter creation_date: 2012-04-22T06:02:12Z [Term] id: HP:0011778 name: Thyroid atypical adenoma is_a: HP:0000854 ! Thyroid adenoma created_by: peter creation_date: 2012-04-22T06:02:26Z [Term] id: HP:0011779 name: Anaplastic thyroid carcinoma xref: UMLS:C0238461 "Anaplastic thyroid cancer" is_a: HP:0002890 ! Thyroid carcinoma created_by: peter creation_date: 2012-04-22T06:02:52Z [Term] id: HP:0011780 name: Thyroid hemiagenesis def: "Absence of a lobe of the thyroid gland related to a failure of its embryologic development." [DDD:spark] is_a: HP:0008188 ! Thyroid dysgenesis created_by: peter creation_date: 2012-04-22T06:04:32Z [Term] id: HP:0011781 name: Thyroid C cell hyperplasia def: "An abnormal growth of parafollicular (C-cells) cells." [DDD:spark, HPO:probinson] comment: Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition. is_a: HP:0008249 ! Thyroid hyperplasia created_by: peter creation_date: 2012-04-22T06:05:57Z [Term] id: HP:0011782 name: Thyroid crisis xref: MeSH:D013958 "Thyroid Crisis" is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:10:37Z [Term] id: HP:0011783 name: Thyrotoxicosis from ectopic thyroid tissue is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:10:51Z [Term] id: HP:0011784 name: Thyrotoxicosis with diffuse goiter synonym: "Thyrotoxicosis with diffuse goitre" EXACT [] is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:11:09Z [Term] id: HP:0011785 name: Thyrotoxicosis with toxic multinodular goitre is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:15:52Z [Term] id: HP:0011786 name: Thyrotoxicosis with toxic single thyroid nodule is_a: HP:0000836 ! Hyperthyroidism created_by: peter creation_date: 2012-04-22T06:16:09Z [Term] id: HP:0011787 name: Central hypothyroidism def: "A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects." [DDD:spark, pmid:18415684] is_a: HP:0000821 ! Hypothyroidism created_by: peter creation_date: 2012-04-22T06:25:45Z [Term] id: HP:0011788 name: Increased serum free triiodothyronine (fT3) def: "An elevated concentration of 3,3',5-triiodo-L-thyronine in the blood." [HPO:probinson] is_a: HP:0002926 ! Abnormality of thyroid physiology property_value: HP:0040005 "An elevated concentration of `3,3',5-triiodo-L-thyronine` (CHEBI:18258) in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-22T06:31:08Z [Term] id: HP:0011789 name: Thyroid-stimulating hormone receptor (TSHR) defect is_a: HP:0002926 ! Abnormality of thyroid physiology created_by: peter creation_date: 2012-04-22T06:32:33Z [Term] id: HP:0011790 name: Activating thyroid-stimulating hormone receptor (TSHR) defect def: "Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect." [DDD:spark] is_a: HP:0011789 ! Thyroid-stimulating hormone receptor (TSHR) defect created_by: peter creation_date: 2012-04-22T06:34:35Z [Term] id: HP:0011791 name: Inactivating thyroid-stimulating hormone receptor (TSHR) defect def: "Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect." [DDD:spark] is_a: HP:0011789 ! Thyroid-stimulating hormone receptor (TSHR) defect created_by: peter creation_date: 2012-04-22T06:35:14Z [Term] id: HP:0011792 name: Neoplasm by histology def: "Neoplasm categorized according to type of histological abnormality." [DDD:rscott] is_a: HP:0002664 ! Neoplasm created_by: peter creation_date: 2012-04-22T06:57:50Z [Term] id: HP:0011793 name: Neoplasm by anatomical site def: "Neoplasm categorized according to the anatomical site of origin of the neoplasm." [DDD:rscott] is_a: HP:0002664 ! Neoplasm created_by: peter creation_date: 2012-04-22T07:00:13Z [Term] id: HP:0011794 name: Embryonal renal neoplasm def: "The presence of an embryonal neoplasm of the kidney that primarily affects children." [DDD:rscott] is_a: HP:0009726 ! Renal neoplasm property_value: HP:0040005 "The presence of an embryonal neoplasm of the `kidney` (FMA:7203) that primarily affects children." xsd:string {xref="DDD:rscott"} created_by: peter creation_date: 2012-04-22T07:44:34Z [Term] id: HP:0011795 name: Intralobar nephroblastomatosis def: "Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it)." [DDD:rscott] synonym: "Intralobar nephrogenic rests" EXACT [] is_a: HP:0008643 ! Nephroblastomatosis created_by: peter creation_date: 2012-04-22T07:50:10Z [Term] id: HP:0011796 name: Perilobar nephroblastomatosis def: "Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar)." [DDD:rscott] synonym: "Perilobar nephrogenic rests" EXACT [] is_a: HP:0008643 ! Nephroblastomatosis created_by: peter creation_date: 2012-04-22T07:50:25Z [Term] id: HP:0011797 name: Papillary renal cell carcinoma type 1 def: "A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli." [DDD:rscott, pmid:12429790] is_a: HP:0006766 ! Papillary renal cell carcinoma created_by: peter creation_date: 2012-04-22T08:03:34Z [Term] id: HP:0011798 name: Renal oncocytoma def: "A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm." [DDD:rscott] comment: Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150). is_a: HP:0009726 ! Renal neoplasm created_by: peter creation_date: 2012-04-22T08:13:36Z [Term] id: HP:0011799 name: Abnormality of facial soft tissue is_a: HP:0000271 ! Abnormality of the face created_by: peter creation_date: 2012-04-23T07:27:57Z [Term] id: HP:0011800 name: Midface retrusion def: "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith, pmid:19125436] subset: hposlim_core synonym: "Midface hypoplasia" RELATED [] is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2012-04-24T07:46:05Z [Term] id: HP:0011801 name: Enlargement of parotid gland def: "Increased size of the parotid gland." [DDD:jclayton-smith] synonym: "Hyperplasia of parotid gland" EXACT [] is_a: HP:0000197 ! Abnormality of parotid gland created_by: peter creation_date: 2012-04-24T07:59:05Z [Term] id: HP:0011802 name: Hamartoma of tongue def: "A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue." [HPO:probinson, pmid:17667541] is_a: HP:0100648 ! Neoplasm of the tongue created_by: peter creation_date: 2012-04-24T08:02:16Z [Term] id: HP:0011803 name: Bifid nose def: "Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip." [pmid:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip. subset: hposlim_core xref: UMLS:C0221363 "Bifid nose" is_a: HP:0004122 ! Midline defect of the nose created_by: peter creation_date: 2012-04-25T08:09:58Z [Term] id: HP:0011804 name: Abnormality of muscle physiology def: "A functional abnormality of a skeletal muscle." [HPO:probinson] is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2012-04-25T02:00:15Z [Term] id: HP:0011805 name: Abnormality of muscle morphology alt_id: HP:0003735 def: "A structural abnormality of a skeletal muscle." [HPO:probinson] is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2012-04-25T02:00:34Z [Term] id: HP:0011807 name: Type 1 muscle fiber atrophy def: "Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson] is_a: HP:0100295 ! Muscle fiber atrophy created_by: peter creation_date: 2012-04-26T12:05:14Z [Term] id: HP:0011808 name: Decreased patellar reflex def: "Decreased intensity of the patellar reflex (also known as the knee jerk reflex)." [HPO:probinson] synonym: "DECREASED PATELLAR REFLEXES" EXACT [HPO:skoehler] is_a: HP:0002600 ! Hyporeflexia of lower limbs created_by: peter creation_date: 2012-04-27T08:38:22Z [Term] id: HP:0011809 name: Paradoxical myotonia def: "A type of myotonia that worsens with repeated muscle contractions." [HPO:probinson, pmid:7678441] comment: In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions. is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2012-04-27T01:20:08Z [Term] id: HP:0011810 name: Impaired two-point discrimination def: "A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart." [HPO:probinson] comment: A normal individual can sense about a 3 mm separation of points on the fingertips. is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2012-04-28T02:50:12Z [Term] id: HP:0011811 name: Impaired touch localization def: "A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip." [HPO:probinson] synonym: "Impaired touch localisation" EXACT [] is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2012-04-28T02:54:44Z [Term] id: HP:0011812 name: Agraphesthesia def: "Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination)." [HPO:probinson] is_a: HP:0011730 ! Abnormality of central sensory function created_by: peter creation_date: 2012-04-28T02:56:29Z [Term] id: HP:0011813 name: Increased cerebral lipofuscin def: "Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:9531959] is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2012-04-28T03:17:57Z [Term] id: HP:0011814 name: Increased urinary hypoxanthine def: "An increased level of hypoxanthine in the urine." [HPO:probinson] is_a: HP:0004352 ! Abnormality of purine metabolism property_value: HP:0040005 "An increased level of `hypoxanthine` (CHEBI:17368) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-04-28T03:38:52Z [Term] id: HP:0011815 name: Cephalocele def: "A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect." [HPO:probinson] is_a: HP:0000929 ! Abnormality of the skull created_by: peter creation_date: 2012-04-29T09:04:09Z [Term] id: HP:0011816 name: Parietal encephalocele def: "An encephalocele located between bregma and lambda." [DDD:awilkie, pmid:2773494] is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2012-04-29T09:07:38Z [Term] id: HP:0011817 name: Basal encephalocele def: "Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares." [HPO:probinson, pmid:4966739] comment: The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2012-04-29T09:14:34Z [Term] id: HP:0011818 name: Nasofrontal encephalocele synonym: "Naso-frontal encephalocele" EXACT [] is_a: HP:0007330 ! Frontal encephalocele created_by: peter creation_date: 2012-04-29T09:20:25Z [Term] id: HP:0011819 name: Submucous cleft soft palate def: "A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue." [HPO:probinson] comment: Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties. subset: hposlim_core is_a: HP:0000185 ! Cleft soft palate created_by: peter creation_date: 2012-04-29T09:49:02Z [Term] id: HP:0011820 name: Membranous choanal atresia def: "Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike." [DDD:jhurst] is_a: HP:0000453 ! Choanal atresia created_by: peter creation_date: 2012-04-29T01:12:43Z [Term] id: HP:0011821 name: Abnormality of facial skeleton def: "An abnormality of one or more of the set of bones that make up the facial skeleton." [DDD:awilkie] comment: The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. is_a: HP:0000929 ! Abnormality of the skull property_value: HP:0040005 "An abnormality of one or more of the set of bones that make up the `facial skeleton` (FMA:53673)." xsd:string {xref="DDD:awilkie"} created_by: peter creation_date: 2012-04-29T04:37:30Z [Term] id: HP:0011822 name: Broad chin def: "Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue." [pmid:19125436] subset: hposlim_core is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-04-30T08:23:35Z [Term] id: HP:0011823 name: Chin with horizontal crease def: "Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest." [pmid:19125436] is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-04-30T08:33:02Z [Term] id: HP:0011824 name: Chin with H-shaped crease def: "H-shaped crease in the fat pad of the chin." [pmid:19125436] comment: The H-shape must be distinguished from Vertical crease of the chin. synonym: "Chin, H-Shaped Crease" EXACT [] synonym: "Chin, H-shaped groove" EXACT [] synonym: "H-shaped dimple of the chin" EXACT [] is_a: HP:0000306 ! Abnormality of the chin created_by: peter creation_date: 2012-04-30T08:34:24Z [Term] id: HP:0011825 name: Tented philtrum def: "Prominence of a triangular soft tissue area of the philtrum with the apex to the columella." [pmid:19152422] comment: A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately. subset: hposlim_core synonym: "Philtrum, Tented" EXACT [] is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:32:31Z [Term] id: HP:0011826 name: Philtrum with midline raphe def: "Narrow ridge in the midline of the philtral groove." [pmid:19152422] comment: The ridge may be very subtly elevated. subset: hposlim_core synonym: "Philtrum, Midline Raphe" EXACT [] is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:33:46Z [Term] id: HP:0011827 name: Malaligned philtral ridges def: "Absence of the usual parallel position of philtral ridges." [pmid:19152422] comment: Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term. subset: hposlim_core synonym: "Philtral Ridges, Malaligned" EXACT [] is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:35:32Z [Term] id: HP:0011828 name: Midline sinus of philtrum def: "Pit in the midline of the philtral groove." [pmid:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core synonym: "Philtrum, Midline Sinus" EXACT [] is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:36:55Z [Term] id: HP:0011829 name: Narrow philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum." [pmid:19152422] comment: Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella. subset: hposlim_core synonym: "Philtrum, Narrow" EXACT [] is_a: HP:0000288 ! Abnormality of the philtrum created_by: peter creation_date: 2012-05-01T10:38:12Z [Term] id: HP:0011830 name: Abnormality of oral mucosa def: "Abnormality of the oral mucosa." [HPO:probinson] subset: hposlim_core is_a: HP:0000163 ! Abnormality of the oral cavity property_value: HP:0040005 "Abnormality of the `oral mucosa` (FMA:59660)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-01T10:43:40Z [Term] id: HP:0011831 name: Deviated nasal tip def: "Nasal tip positioned to one side of the midline." [pmid:19152422] comment: There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip. synonym: "Nasal tip, deviated" EXACT [] is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2012-05-01T07:37:48Z [Term] id: HP:0011832 name: Narrow nasal tip def: "Decrease in width of the nasal tip." [pmid:19152422] comment: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. subset: hposlim_core synonym: "Nasal tip, narrow" EXACT [] synonym: "Nasal tip, pinched" EXACT [] synonym: "Pinched nasal tip" EXACT [] xref: SNOMEDCT:249331008 "Pinched nasal tip" xref: UMLS:C0426433 "Pinched nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2012-05-01T07:39:09Z [Term] id: HP:0011833 name: Overhanging nasal tip def: "Positioning of the nasal tip inferior to the nasal base." [pmid:19152422] comment: This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately. subset: hposlim_core synonym: "Drooping nasal tip" EXACT [] synonym: "Nasal tip, overhanging" EXACT [] is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2012-05-01T07:42:15Z [Term] id: HP:0011834 name: Moyamoya phenomenon def: "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis." [HPO:probinson] comment: Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain. xref: MeSH:D009072 "Moyamoya Disease" is_a: HP:0012518 ! Abnormality of circle of Willis property_value: HP:0040005 "A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the `circle of Willis` (FMA:50454)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-05T03:24:26Z [Term] id: HP:0011835 name: Absent scaphoid def: "Congenital absence of the scaphoid.." [DDD:jcampbell] synonym: "ABSENT SCAPHOID BONE" RELATED [HPO:skoehler] is_a: HP:0004231 ! Carpal bone aplasia property_value: HP:0040005 "Congenital absence of the `scaphoid` (FMA:23709).." xsd:string {xref="DDD:jcampbell"} created_by: peter creation_date: 2012-05-05T07:37:35Z [Term] id: HP:0011836 name: Delayed talus ossification def: "Delayed maturation and calcification of the talus." [HPO:probinson] is_a: HP:0008365 ! Abnormality of the talus is_a: HP:0008369 ! Abnormal tarsal ossification property_value: HP:0040005 "Delayed maturation and calcification of the `talus` (FMA:9708)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-05T08:39:24Z [Term] id: HP:0011837 name: Partial IgA deficiency def: "Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means." [HPO:probinson] is_a: HP:0002720 ! IgA deficiency created_by: peter creation_date: 2012-05-06T09:42:01Z [Term] id: HP:0011838 name: Sclerodactyly def: "Localized thickening and tightness of the skin of the fingers or toes." [HPO:probinson] xref: ICD-10:L94.3 "Sclerodactyly" is_a: HP:0001072 ! Thickened skin created_by: peter creation_date: 2012-05-06T10:04:27Z [Term] id: HP:0011839 name: Abnormality of T cell number def: "A deviation from the normal count of T cells." [HPO:probinson] synonym: "ABNORMAL NUMBER OF T CELLS" EXACT [HPO:skoehler] is_a: HP:0002843 ! Abnormality of T cells is_a: HP:0040088 ! Abnormal lymphocyte count property_value: HP:0040005 "A deviation from the normal count of `T cells` (CL:0000084)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-06T10:43:44Z [Term] id: HP:0011840 name: Abnormality of T cell physiology def: "A deviation from the normal count of T cells." [HPO:probinson] is_a: HP:0002843 ! Abnormality of T cells is_a: HP:0011017 ! Abnormality of cell physiology property_value: HP:0040005 "A deviation from the normal count of `T cells` (CL:0000084)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-06T10:44:50Z [Term] id: HP:0011841 name: Ventricular flutter def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance." [HPO:probinson] comment: If untreated, ventricular flutter typically progresses to ventricular fibrillation. xref: MeSH:D054141 "Ventricular flutter" xref: UMLS:C0152173 "Ventricular flutter" is_a: HP:0004756 ! Ventricular tachycardia created_by: peter creation_date: 2012-05-06T06:46:54Z [Term] id: HP:0011842 name: Abnormality of skeletal morphology def: "An abnormality of the form, structure, or size of the skeletal system." [HPO:probinson] is_a: HP:0000924 ! Abnormality of the skeletal system property_value: HP:0040005 "An abnormality of the form, structure, or size of the `skeletal system` (FMA:23881)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-07T08:08:37Z [Term] id: HP:0011843 name: Abnormality of skeletal physiology def: "An abnormality of the function of the skeletal system." [HPO:probinson] is_a: HP:0000924 ! Abnormality of the skeletal system property_value: HP:0040005 "An abnormality of the function of the `skeletal system` (FMA:23881)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-07T08:09:43Z [Term] id: HP:0011844 name: Abnormal appendicular skeleton morphology def: "An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles." [HPO:probinson] is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: HP:0040005 "An abnormality of the `appendicular skeletal system` (FMA:7484), consisting of the of the limbs, shoulder and pelvic girdles." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-07T08:12:26Z [Term] id: HP:0011845 name: Short second metatarsal def: "Short (hypoplastic) second metatarsal bone." [HPO:probinson] is_a: HP:0010743 ! Short metatarsal is_a: HP:0040034 ! Abnormality of the second metatarsal bone property_value: HP:0040005 "Short (hypoplastic) `second metatarsal bone` (FMA:24503)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-08T07:36:00Z [Term] id: HP:0011846 name: Osteoblastoma def: "A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue." [HPO:probinson] xref: MeSH:D018215 "Osteoblastoma" is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: peter creation_date: 2012-05-09T08:34:41Z [Term] id: HP:0011847 name: Giant cell tumor of bone def: "A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts." [HPO:probinson] xref: MeSH:D018212 "Giant Cell Tumor of Bone" is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: peter creation_date: 2012-05-09T08:35:52Z [Term] id: HP:0011848 name: Abdominal colic xref: UMLS:C0232488 "Abdominal colic" is_a: HP:0002027 ! Abdominal pain created_by: hecht creation_date: 2012-05-12T07:17:45Z [Term] id: HP:0011849 name: Abnormal bone ossification def: "Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance." [HPO:probinson] xref: MP:0008271 "Abnormal bone ossification" is_a: HP:0003330 ! Abnormal bone structure created_by: peter creation_date: 2012-05-15T07:39:58Z [Term] id: HP:0011850 name: Parotitis def: "Inflammation of the parotid gland." [HPO:probinson] xref: MeSH:D010309 "Parotitis" xref: UMLS:C0030583 "Parotitis" is_a: HP:0000197 ! Abnormality of parotid gland created_by: hecht creation_date: 2012-05-21T10:33:44Z [Term] id: HP:0011851 name: Hemopericardium def: "Accumulation of blood within the pericardial sac." [HPO:probinson, pmid:10882282] is_a: HP:0001698 ! Pericardial effusion created_by: hecht creation_date: 2012-05-21T10:43:03Z [Term] id: HP:0011852 name: Chylopericardium def: "Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct." [HPO:probinson] is_a: HP:0001698 ! Pericardial effusion created_by: hecht creation_date: 2012-05-21T10:44:29Z [Term] id: HP:0011853 name: Serous pericardial effusion def: "Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac." [HPO:probinson] is_a: HP:0001698 ! Pericardial effusion created_by: hecht creation_date: 2012-05-21T10:49:08Z [Term] id: HP:0011854 name: Hemoperitoneum def: "Accumulation of blood in the peritoneal cavity owing to internal hemorrhage." [HPO:probinson] xref: MeSH:D006465 "Hemoperitoneum" is_a: HP:0002585 ! Abnormality of the peritoneum created_by: hecht creation_date: 2012-05-21T10:55:34Z [Term] id: HP:0011855 name: Pharyngeal edema def: "Abnormal accumulation of fluid leading to swelling of the pharynx." [HPO:probinson] is_a: HP:0000600 ! Abnormality of the pharynx is_a: HP:0000969 ! Edema created_by: hecht creation_date: 2012-05-21T11:02:52Z [Term] id: HP:0011856 name: Pica def: "An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month." [HPO:probinson] xref: MeSH:D010842 "Pica" xref: UMLS:C0031873 "Pica" is_a: HP:0100738 ! Abnormal eating behavior created_by: hecht creation_date: 2012-05-21T11:08:54Z [Term] id: HP:0011857 name: Plasmacytoma def: "A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location." [HPO:probinson] comment: Plasmacytoma often generalizes to multiple myeloma over the course of several years. xref: MeSH:D010954 "Plasmacytoma" xref: UMLS:C0032131 "Plasmacytoma" is_a: HP:0004377 ! Hematological neoplasm created_by: hecht creation_date: 2012-05-21T11:34:44Z [Term] id: HP:0011858 name: Reduced factor IX activity def: "Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." [HPO:probinson] comment: Severe deficiency of factor IX underlies hemophilia B. is_a: HP:0010989 ! Abnormality of the intrinsic pathway property_value: HP:0040005 "Decreased activity of `coagulation factor IX` (PR:000007303). Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-26T11:35:57Z [Term] id: HP:0011859 name: Punctate keratitis def: "A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium." [HPO:probinson] xref: UMLS:C0259799 "Punctate keratitis" is_a: HP:0000491 ! Keratitis created_by: hecht creation_date: 2012-05-21T12:18:03Z [Term] id: HP:0011860 name: Metaphyseal dappling def: "The presence of spots or rounded patches of abnormally increased density of metaphyseal bone." [HPO:probinson] comment: This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia. synonym: "Dappled metaphyseal sclerosis" EXACT [] is_a: HP:0004979 ! Metaphyseal sclerosis created_by: peter creation_date: 2012-05-26T04:09:07Z [Term] id: HP:0011861 name: Bilateral trilobed lungs def: "Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes." [HPO:probinson] is_a: HP:0002101 ! Abnormal lung lobation created_by: peter creation_date: 2012-05-27T01:09:21Z [Term] id: HP:0011862 name: Abnormal bone collagen fibril morphology def: "Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity." [HPO:probinson, MP:0011642] is_a: HP:0003330 ! Abnormal bone structure created_by: peter creation_date: 2012-05-27T01:32:04Z [Term] id: HP:0011863 name: Abnormal sternal ossification alt_id: HP:0006624 def: "Any anomaly in the formation of the bony substance of the sternum." [HPO:probinson] comment: The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process. synonym: "Sternal ossification center abnormalities" EXACT [] xref: UMLS:C1860243 "Sternal ossification center abnormalities" is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0003336 ! Abnormal enchondral ossification property_value: HP:0040005 "Any anomaly in the formation of the bony substance of the `sternum` (FMA:7485)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-27T04:08:55Z [Term] id: HP:0011864 name: Elevated plasma pyrophosphate def: "An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson] is_a: HP:0100529 ! Abnormality of phosphate homeostasis property_value: HP:0040005 "An abnormally increased `diphosphate(4-)` (CHEBI:18361) concentration in the `blood` (FMA:9670). Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-28T06:05:24Z [Term] id: HP:0011867 name: Abnormality of the wing of the ilium def: "An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally." [HPO:probinson] is_a: HP:0002867 ! Abnormality of the ilium property_value: HP:0040005 "An anomaly of the `ilium ala` (FMA:42826). This is the large expanded portion of the ilum which bounds the greater pelvis laterally." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-05-28T07:23:30Z [Term] id: HP:0011868 name: Sciatica def: "Pain in the lower back and hip radiating in the distribution of the sciatic nerve." [HPO:probinson, pmid:17872935] xref: MeSH:D012585 "Sciatica" is_a: HP:0003418 ! Back pain created_by: peter creation_date: 2012-05-28T10:34:09Z [Term] id: HP:0011869 name: Abnormal platelet function def: "Any anomaly in the function of thrombocytes." [HPO:probinson] is_a: HP:0001872 ! Abnormality of thrombocytes created_by: peter creation_date: 2012-05-30T05:32:11Z [Term] id: HP:0011870 name: Impaired arachidonic acid-induced platelet aggregation def: "Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." [DDD:wouwehand] is_a: HP:0003540 ! Impaired platelet aggregation created_by: peter creation_date: 2012-05-30T05:37:07Z [Term] id: HP:0011871 name: Impaired ristocetin-induced platelet aggregation def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin." [DDD:wouwehand] is_a: HP:0003540 ! Impaired platelet aggregation is_a: HP:0012146 ! Abnormality of von Willebrand factor created_by: peter creation_date: 2012-05-30T05:39:52Z [Term] id: HP:0011872 name: Impaired thrombin-induced platelet aggregation def: "Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics)." [DDD:wouwehand] is_a: HP:0003540 ! Impaired platelet aggregation created_by: peter creation_date: 2012-05-30T05:41:52Z [Term] id: HP:0011873 name: Abnormal platelet count def: "Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood." [DDD:kfreson] is_a: HP:0001872 ! Abnormality of thrombocytes created_by: peter creation_date: 2012-05-30T08:11:13Z [Term] id: HP:0011874 name: Heparin-induced thrombocytopenia def: "Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin." [HPO:probinson, pmid:16928996] comment: A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4. is_a: HP:0001873 ! Thrombocytopenia created_by: peter creation_date: 2012-05-30T08:31:16Z [Term] id: HP:0011875 name: Abnormal platelet morphology def: "An anomaly in platelet form, ultrastructure, or intracellular organelles." [DDD:kfreson] is_a: HP:0001872 ! Abnormality of thrombocytes created_by: peter creation_date: 2012-05-31T03:43:59Z [Term] id: HP:0011876 name: Abnormal platelet volume def: "Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers." [HPO:probinson] is_a: HP:0001872 ! Abnormality of thrombocytes created_by: peter creation_date: 2012-05-31T03:46:13Z [Term] id: HP:0011877 name: Increased mean platelet volume def: "Average platelet volume above the upper limit of the normal reference interval." [DDD:wouwehand] comment: Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL). synonym: "Large platelets" EXACT [] is_a: HP:0011876 ! Abnormal platelet volume created_by: peter creation_date: 2012-05-31T03:58:17Z [Term] id: HP:0011878 name: Abnormal platelet membrane protein expression def: "Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry." [DDD:wouwehand] is_a: HP:0011869 ! Abnormal platelet function created_by: peter creation_date: 2012-05-31T04:00:21Z [Term] id: HP:0011879 name: Decreased platelet glycoprotein Ib-IX-V def: "Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V." [DDD:wouwehand, pmid:10605725] comment: The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma. is_a: HP:0011878 ! Abnormal platelet membrane protein expression created_by: peter creation_date: 2012-05-31T04:01:34Z [Term] id: HP:0011880 name: Acute disseminated intravascular coagulation def: "An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed." [HPO:probinson] is_a: HP:0005521 ! Disseminated intravascular coagulation property_value: HP:0040005 "An acute form of `disseminated intravascular coagulation` (HP:0005521). Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-02T04:49:50Z [Term] id: HP:0011881 name: Decreased platelet glycoprotein VI def: "Decreased cell membrane concentration of glycoprotein VI." [DDD:wouwehand] comment: The glycoprotein VI is a glycoprotein receptor for collagen. is_a: HP:0011878 ! Abnormal platelet membrane protein expression created_by: peter creation_date: 2012-06-02T09:17:33Z [Term] id: HP:0011882 name: Decreased platelet P2Y12 receptor def: "Decreased cell membrane concentration of P2Y12 receptor." [DDD:wouwehand, pmid:14755328] comment: The P2Y12 receptor is activated by ADP and plays a central role in platelet activation. is_a: HP:0011878 ! Abnormal platelet membrane protein expression created_by: peter creation_date: 2012-06-02T09:18:58Z [Term] id: HP:0011883 name: Abnormal platelet granules def: "An anomaly of alpha or dense granules or platelet lysosomes." [DDD:wouwehand, pmid:18041654] comment: Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space. is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2012-06-02T09:47:57Z [Term] id: HP:0011884 name: Abnormal umbilical stump bleeding def: "Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth." [DDD:akelly] is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T10:25:45Z [Term] id: HP:0011885 name: Hemorrhage of the eye def: "Bleeding from vessels of the various tissues of the eye." [DDD:akelly] synonym: "Haemorrhage of the eye" RELATED [] xref: MeSH:D005130 "Eye Hemorrhage" is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0012373 ! Abnormal eye physiology created_by: peter creation_date: 2012-06-02T10:44:39Z [Term] id: HP:0011886 name: Hyphema def: "Bleeding in the anterior chamber of the eye." [HPO:probinson] xref: MeSH:D006988 "Hyphema" is_a: HP:0011885 ! Hemorrhage of the eye created_by: peter creation_date: 2012-06-02T10:49:36Z [Term] id: HP:0011887 name: Choroid hemorrhage def: "Hemorrhage from the vessels of the choroid." [HPO:probinson] synonym: "Choroidal Hemorrhage" EXACT [] xref: MeSH:D002832 "Choroid Hemorrhage" is_a: HP:0011885 ! Hemorrhage of the eye created_by: peter creation_date: 2012-06-02T10:50:39Z [Term] id: HP:0011888 name: Bleeding requiring red cell transfusion def: "Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4)." [DDD:akelly] is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T11:31:44Z [Term] id: HP:0011889 name: Bleeding with minor or no trauma def: "Significant bleeding or hemorrhage without significant precipitating factor." [DDD:kfreson] is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T11:32:13Z [Term] id: HP:0011890 name: Prolonged bleeding following procedure def: "Prolonged or protracted bleeding following an invasive procedure or intervention." [DDD:akelly] is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2012-06-02T11:33:38Z [Term] id: HP:0011891 name: Post-partum hemorrhage def: "Significant maternal haemorrhage/blood loss following deilvery of a child." [DDD:akelly] synonym: "Post-partum haemorrhage" EXACT [] is_a: HP:0011890 ! Prolonged bleeding following procedure created_by: peter creation_date: 2012-06-02T11:35:46Z [Term] id: HP:0011892 name: Vitamin K deficiency xref: MeSH:D014813 "Vitamin K Deficiency" is_a: HP:0100831 ! Abnormality of vitamin K metabolism created_by: peter creation_date: 2012-06-02T05:21:14Z [Term] id: HP:0011893 name: Abnormal leukocyte count def: "Number of leukocytes per volume of blood beyond normal limits." [HPO:probinson] is_a: HP:0001881 ! Abnormality of leukocytes created_by: peter creation_date: 2012-06-02T05:32:39Z [Term] id: HP:0011894 name: Impaired thromboxane A2 agonist-induced platelet aggregation def: "Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists." [DDD:wouwehand] is_a: HP:0003540 ! Impaired platelet aggregation created_by: peter creation_date: 2012-06-03T08:51:33Z [Term] id: HP:0011895 name: Anemia due to reduced life span of red cells def: "A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days." [DDD:akelly] synonym: "Anaemia due to reduced life span of red cells" EXACT [] is_a: HP:0001903 ! Anemia created_by: peter creation_date: 2012-06-03T09:26:17Z [Term] id: HP:0011896 name: Subconjunctival hemorrhage def: "Bleeding beneath the mucous membrane that lines the inner surface of the eyelid." [DDD:akelly] synonym: "Subconjunctival haemorrhage" RELATED [] is_a: HP:0011885 ! Hemorrhage of the eye created_by: peter creation_date: 2012-06-03T03:11:41Z [Term] id: HP:0011897 name: Neutrophillia def: "Increased number of neutrophils circulating in blood." [DDD:akelly] is_a: HP:0011991 ! Abnormal neutrophil cell number created_by: peter creation_date: 2012-06-03T03:16:43Z [Term] id: HP:0011898 name: Abnormality of circulating fibrinogen def: "An abnormality of the level of activity of circulating fibrinogen." [DDD:akelly] comment: Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin. is_a: HP:0010990 ! Abnormality of the common coagulation pathway created_by: peter creation_date: 2012-06-03T03:35:43Z [Term] id: HP:0011899 name: Hyperfibrinogenemia def: "Increased concentration of fibrinogen in the blood." [DDD:akelly] is_a: HP:0011898 ! Abnormality of circulating fibrinogen created_by: peter creation_date: 2012-06-03T03:38:36Z [Term] id: HP:0011900 name: Hypofibrinogenemia def: "Decreased concentration of fibrinogen in the blood." [HPO:probinson] is_a: HP:0011898 ! Abnormality of circulating fibrinogen created_by: peter creation_date: 2012-06-03T03:39:47Z [Term] id: HP:0011901 name: Dysfibrinogenemia def: "Qualitatively abnormal fibrinogen." [DDD:akelly] synonym: "Dysfibrinogenaemia" EXACT [] is_a: HP:0011898 ! Abnormality of circulating fibrinogen created_by: peter creation_date: 2012-06-03T03:40:21Z [Term] id: HP:0011902 name: Abnormal hemoglobin def: "Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes." [HPO:probinson] is_a: HP:0001877 ! Abnormality of erythrocytes created_by: peter creation_date: 2012-06-03T03:53:23Z [Term] id: HP:0011903 name: Hemoglobin H def: "Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia." [HPO:probinson, pmid:21345100] xref: MeSH:D006447 "Hemoglobin H" is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2012-06-03T04:59:15Z [Term] id: HP:0011904 name: Persistence of hemoglobin F def: "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [HPO:probinson] synonym: "Increased hemoglobin F" EXACT [] is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2012-06-03T05:03:00Z [Term] id: HP:0011905 name: Reduced hemoglobin A def: "Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia." [HPO:probinson] is_a: HP:0011902 ! Abnormal hemoglobin created_by: peter creation_date: 2012-06-03T05:07:19Z [Term] id: HP:0011906 name: Reduced beta/alpha synthesis ratio def: "A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia." [HPO:probinson, pmid:1060068] is_a: HP:0005560 ! Imbalanced hemoglobin synthesis created_by: peter creation_date: 2012-06-03T05:41:20Z [Term] id: HP:0011907 name: Reduced alpha/beta synthesis ratio def: "A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia." [HPO:probinson] is_a: HP:0005560 ! Imbalanced hemoglobin synthesis created_by: peter creation_date: 2012-06-03T05:43:45Z [Term] id: HP:0011908 name: Unilateral radial aplasia def: "Missing radius bone on one side only associated with congenital failure of development." [HPO:probinson] is_a: HP:0003974 ! Absent radius created_by: peter creation_date: 2012-06-03T06:46:52Z [Term] id: HP:0011909 name: Flattened metacarpal heads def: "Abnormally flat shape of the heads of the metacarpal bones." [HPO:probinson] comment: The metacarpal heads articulate with the proximal phalanges of the fingers. is_a: HP:0005916 ! Abnormal metacarpal morphology created_by: peter creation_date: 2012-06-03T10:23:40Z [Term] id: HP:0011910 name: Shortening of all phalanges of fingers def: "Abnormal reduction in length affecting all phalanges." [HPO:probinson] is_a: HP:0009803 ! Short phalanx of finger created_by: peter creation_date: 2012-06-03T10:50:44Z [Term] id: HP:0011911 name: Abnormality of metacarpophalangeal joint def: "An anomaly of a metacarpophalangeal joint." [HPO:probinson] is_a: HP:0001163 ! Abnormality of the metacarpal bones property_value: HP:0040005 "An anomaly of a `metacarpophalangeal joint` (FMA:35246)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-03T11:03:36Z [Term] id: HP:0011912 name: Abnormality of the glenoid fossa def: "An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson] is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0003043 ! Abnormality of the shoulder property_value: HP:0040005 "An anomaly of the `glenoid fossa` (FMA:23275), also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-05T08:51:23Z [Term] id: HP:0011913 name: Lumbar hypertrichosis def: "Excessive, increased hair growth located in the lumbar region." [HPO:probinson] is_a: HP:0000998 ! Hypertrichosis created_by: peter creation_date: 2012-06-05T10:13:10Z [Term] id: HP:0011914 name: Thoracic hypertrichosis def: "Excessive, increased hair growth located in the thoracic region." [HPO:probinson] is_a: HP:0000998 ! Hypertrichosis created_by: peter creation_date: 2012-06-05T10:13:14Z [Term] id: HP:0011915 name: Cardiovascular calcification def: "Abnormal calcification in the cardiovascular system." [HPO:probinson] is_a: HP:0001626 ! Abnormality of the cardiovascular system is_a: HP:0010766 ! Ectopic calcification property_value: HP:0040005 "Abnormal calcification in the `cardiovascular system` (FMA:7161)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-05T10:35:58Z [Term] id: HP:0011916 name: Toe extensor amyotrophy def: "Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes." [HPO:probinson] is_a: HP:0001436 ! Abnormality of the foot musculature created_by: peter creation_date: 2012-06-08T06:59:44Z [Term] id: HP:0011917 name: Short 5th toe def: "Underdevelopment (hypoplasia) of the fifth toe." [HPO:probinson] synonym: "Short fifth toe" EXACT [] is_a: HP:0001831 ! Short toe property_value: HP:0040005 "Underdevelopment (hypoplasia) of the `fifth toe` (FMA:25053)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-08T08:25:00Z [Term] id: HP:0011918 name: Clinodactyly of the 4th toe def: "Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "4th toe clinodactyly" RELATED [] is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010338 ! Deviation of the 4th toe property_value: HP:0040005 "Bending or curvature of a `fourth toe` (FMA:25052) in the tibial direction (i.e., towards the big toe)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-08T08:44:27Z [Term] id: HP:0011919 name: Pleural empyema def: "Accumulation of pus in the pleural cavity." [HPO:probinson] synonym: "Pyothorax" EXACT [] xref: MeSH:D016724 "Empyema, Pleural" is_a: HP:0002202 ! Pleural effusion property_value: HP:0040005 "Accumulation of pus in the `pleural cavity` (FMA:9740)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-08T07:13:41Z [Term] id: HP:0011920 name: Transudative pleural effusion def: "A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [DDD:tkuijpers, HPO:probinson, pmid:16623208] comment: Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax. is_a: HP:0002202 ! Pleural effusion created_by: peter creation_date: 2012-06-08T07:31:00Z [Term] id: HP:0011921 name: Exudative pleural effusion def: "A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH." [DDD:tkuijpers, HPO:probinson, pmid:16623208] comment: Transudates result from pneumonia, malignancy, thromboembolism, and other causes. is_a: HP:0002202 ! Pleural effusion created_by: peter creation_date: 2012-06-08T07:35:47Z [Term] id: HP:0011922 name: Abnormal activity of mitochondrial respiratory chain def: "An increased or decreased activity of the mitochondrial respiratory chain." [HPO:probinson] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism property_value: HP:0040005 "An increased or decreased activity of the `mitochondrial respiratory chain` (GO:0005746)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-08T08:57:44Z [Term] id: HP:0011923 name: Decreased activity of mitochondrial complex I def: "A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex I deficiency" RELATED [] is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: HP:0040005 "A reduction in the activity of the `mitochondrial respiratory chain complex I` (GO:0005747), which is part of the electron transport chain in mitochondria." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-08T09:02:29Z [Term] id: HP:0011924 name: Decreased activity of mitochondrial complex III def: "A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria." [HPO:probinson] synonym: "Respiratory complex III deficiency" RELATED [] is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: HP:0040005 "A reduction in the activity of the `mitochondrial respiratory chain complex III` (GO:0005750), which is part of the electron transport chain in mitochondria." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-08T09:04:26Z [Term] id: HP:0011925 name: Decreased activity of mitochondrial ATP synthase complex def: "A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." [HPO:probinson] synonym: "Respiratory complex deficiency, ATPase deficiency" RELATED [] is_a: HP:0008972 ! Decreased activity of mitochondrial respiratory chain property_value: HP:0040005 "A reduction in the activity of the ` mitochondrial proton-transporting ATP synthase complex` (GO:0005753), which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-08T09:08:42Z [Term] id: HP:0011926 name: Proximal placement of hallux def: "Proximal mislocalization of the big toe from its normal position." [HPO:probinson] comment: Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. synonym: "Proximal placement of big toe" EXACT [] is_a: HP:0010051 ! Deviation of the hallux property_value: HP:0040005 "`Proximal mislocalization` (PATO:0002179) of the `big toe` (FMA:25047) from its normal position." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-09T03:29:59Z [Term] id: HP:0011927 name: Short digit def: "One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened." [HPO:probinson] comment: Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. synonym: "VERY SHORT DIGITS" RELATED [HPO:skoehler] xref: UMLS:C1844548 "Hypoplastic digits" is_a: HP:0011297 ! Abnormality of digit created_by: peter creation_date: 2012-06-10T09:18:42Z [Term] id: HP:0011928 name: Short proximal phalanx of toe def: "Developmental hypoplasia (shortening) of proximal phalanx of toe." [HPO:probinson] is_a: HP:0001831 ! Short toe is_a: HP:0010184 ! Abnormality of toe proximal phalanx property_value: HP:0040005 "Developmental hypoplasia (shortening) of `proximal phalanx of toe` (FMA:75828)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-10T10:06:30Z [Term] id: HP:0011929 name: Hypersegmentation of proximal phalanx of third finger def: "Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger." [HPO:probinson] comment: This anomaly is characteristic for brachydactyly type C. is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger created_by: peter creation_date: 2012-06-10T10:49:28Z [Term] id: HP:0011930 name: Hyperextensible skin of chest is_a: HP:0007458 ! Focal hyperextensible skin created_by: peter creation_date: 2012-06-10T11:37:14Z [Term] id: HP:0011931 name: Abnormality of the cerebellar peduncle def: "An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." [HPO:probinson] is_a: HP:0002438 ! Cerebellar malformation is_a: HP:0012501 ! Abnormality of the brainstem white matter property_value: HP:0040005 "An anomaly of the `cerebellar peduncles` (FMA:77791). The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-10T01:02:57Z [Term] id: HP:0011932 name: Abnormality of the superior cerebellar peduncle def: "An anomaly of the superior cerebellar peduncle." [HPO:probinson] is_a: HP:0007361 ! Abnormality of the pons is_a: HP:0011931 ! Abnormality of the cerebellar peduncle property_value: HP:0040005 "An anomaly of the `superior cerebellar peduncle` (FMA:72495)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-10T01:26:47Z [Term] id: HP:0011933 name: Elongated superior cerebellar peduncle def: "Increased length of the superior cerebellar peduncle." [HPO:probinson] synonym: "ELONGATED SUPERIOR CEREBELLAR PEDUNCLES" RELATED [HPO:skoehler] synonym: "Long cerebellar peduncle" EXACT [HPO:skoehler] synonym: "Long cerebellar peduncles" EXACT [] is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle property_value: HP:0040005 "Increased length of the `superior cerebellar peduncle` (FMA:72495)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-10T01:31:13Z [Term] id: HP:0011934 name: Mesenteric artery aneurysm def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery ." [HPO:probinson] is_a: HP:0002636 ! Aneurysm of an abdominal artery property_value: HP:0040005 "Abnormal outpouching or sac-like dilatation in the wall of the `inferior mesenteric artery ` (FMA:14750) or `superior mesenteric artery ` (FMA:14749)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-10T01:48:30Z [Term] id: HP:0011935 name: Decreased urinary urate def: "Decreased concentration of urate in the urine." [HPO:probinson] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. is_a: HP:0012610 ! Abnormality of urinary uric acid concentration property_value: HP:0040005 "Decreased concentration of `urate` (CHEBI:46819) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-10T02:19:49Z [Term] id: HP:0011936 name: Decreased plasma total carnitine def: "A decreased concentration of total carnitine in the blood." [HPO:probinson] is_a: HP:0003234 ! Decreased plasma carnitine property_value: HP:0040005 "A decreased concentration of total `carnitine` (CHEBI:17126) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-10T04:20:17Z [Term] id: HP:0011937 name: Hypoplastic fifth toenail def: "Underdeveloped nails of the fifth toes." [HPO:probinson] is_a: HP:0001800 ! Hypoplastic toenails created_by: peter creation_date: 2012-06-10T04:27:42Z [Term] id: HP:0011939 name: 3-4 finger cutaneous syndactyly def: "A soft tissue continuity in the A/P axis between fingers 4 and 4." [HPO:probinson] is_a: HP:0010554 ! Cutaneous finger syndactyly created_by: peter creation_date: 2012-06-10T05:13:51Z [Term] id: HP:0011940 name: Anterior wedging of T12 def: "An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] synonym: "Anterior wedging of the 12th thoracic vertebra" EXACT [] synonym: "Wedge-shaped 12th thoracic vertebra" EXACT [] is_a: HP:0008422 ! Vertebral wedging created_by: peter creation_date: 2012-06-10T06:07:54Z [Term] id: HP:0011941 name: Anterior wedging of L2 def: "An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front)." [HPO:probinson] is_a: HP:0008422 ! Vertebral wedging created_by: peter creation_date: 2012-06-10T06:10:08Z [Term] id: HP:0011942 name: Increased urinary sulfite def: "Increased concentration of sulfate in the urine." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "Increased concentration of `sulfate` (CHEBI:17359) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-11T07:36:01Z [Term] id: HP:0011943 name: Increased urinary thiosulfate def: "Increased concentration of thiosulfate(2-) in the urine." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "Increased concentration of `thiosulfate(2-)` (CHEBI:16094) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-11T07:37:29Z [Term] id: HP:0011944 name: Small vessel vasculitis def: "A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries." [HPO:probinson, pmid:9366584] is_a: HP:0002633 ! Vasculitis created_by: peter creation_date: 2012-06-11T07:58:21Z [Term] id: HP:0011945 name: Bronchiolitis obliterans organizing pneumonia def: "Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss." [DDD:tkuijpers, HPO:probinson, pmid:20858818] synonym: "Bronchiolitis obliterans organizing pneumonia (BOOP)" EXACT [] synonym: "Cryptogenic organizing pneumonia" EXACT [] xref: MeSH:D018549 "Cryptogenic Organizing Pneumonia" is_a: HP:0006530 ! Interstitial pulmonary disease created_by: peter creation_date: 2012-06-18T07:55:41Z [Term] id: HP:0011946 name: Bronchiolitis obliterans def: "Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways." [HPO:probinson] comment: Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia. synonym: "Constrictive bronchiolitis" EXACT [] synonym: "Obliterative bonchiolitis" EXACT [] xref: MeSH:D001989 "Bronchiolitis Obliterans" is_a: HP:0006530 ! Interstitial pulmonary disease created_by: peter creation_date: 2012-06-21T08:20:58Z [Term] id: HP:0011947 name: Respiratory tract infection def: "An infection of the upper or lower respiratory tract." [HPO:probinson] synonym: "Respiratory infection" EXACT [] synonym: "RESPIRATORY INFECTIONS" RELATED [HPO:skoehler] xref: MeSH:D012141 "Respiratory Tract Infections" is_a: HP:0002088 ! Abnormality of the lung created_by: peter creation_date: 2012-06-21T08:26:36Z [Term] id: HP:0011948 name: Acute respiratory tract infection def: "An acute infection of the upper or lower respiratory tract." [DDD:tkuijpers] is_a: HP:0011947 ! Respiratory tract infection created_by: peter creation_date: 2012-06-21T08:30:15Z [Term] id: HP:0011949 name: Acute infectious pneumonia def: "Acute inflammation of the lung due to an infection." [DDD:tkuijpers] xref: MeSH:D011014 "Pneumonia" is_a: HP:0011948 ! Acute respiratory tract infection created_by: peter creation_date: 2012-06-21T08:33:30Z [Term] id: HP:0011950 name: Bronchiolitis def: "Inflammation of the bronchioles." [DDD:tkuijpers] xref: MeSH:D001988 "Bronchiolitis" is_a: HP:0011948 ! Acute respiratory tract infection property_value: HP:0040005 "Inflammation of the `bronchioles` (FMA:76497)." xsd:string {xref="DDD:tkuijpers"} created_by: peter creation_date: 2012-06-21T08:36:11Z [Term] id: HP:0011951 name: Aspiration pneumonia def: "Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] xref: MeSH:D011015 "Pneumonia, Aspiration" is_a: HP:0002090 ! Pneumonia created_by: peter creation_date: 2012-06-21T08:40:03Z [Term] id: HP:0011952 name: Acute aspiration pneumonia def: "An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract." [HPO:probinson] xref: MeSH:D011015 "Pneumonia, Aspiration" is_a: HP:0011951 ! Aspiration pneumonia created_by: peter creation_date: 2012-06-21T08:42:03Z [Term] id: HP:0011953 name: Pulmonary lymphoma def: "Lung parenchymal involvement with lymphoma." [DDD:tkuijpers] is_a: HP:0002665 ! Lymphoma is_a: HP:0100526 ! Neoplasm of the lung created_by: peter creation_date: 2012-06-21T08:45:48Z [Term] id: HP:0011954 name: Nodular regenerative hyperplasia of liver def: "Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis." [pmid:21472097] synonym: "Nodular transformation of liver" EXACT [] synonym: "Noncirrhotic nodulation" EXACT [] synonym: "Partial nodular transformation of liver" EXACT [] is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2012-06-21T09:06:10Z [Term] id: HP:0011955 name: Hepatic granulomatosis def: "The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes." [HPO:probinson] is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002955 ! Granulomatosis created_by: peter creation_date: 2012-06-21T09:11:32Z [Term] id: HP:0011956 name: Intestinal lymphoid nodular hyperplasia def: "A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine." [HPO:probinson, pmid:21481240] is_a: HP:0002242 ! Abnormality of the intestine created_by: peter creation_date: 2012-06-21T09:27:07Z [Term] id: HP:0011957 name: Abnormality of the pectoral muscle def: "An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." [HPO:probinson] is_a: HP:0009131 ! Abnormality of the musculature of the thorax property_value: HP:0040005 "An abnormality of the `pectoral muscle` (FMA:37349), comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-22T08:06:04Z [Term] id: HP:0011958 name: Retinal perforation def: "A small hole through the whole thickness of the retina." [HPO:probinson] comment: Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes. xref: MeSH:D012167 "Retinal Perforations" is_a: HP:0000479 ! Abnormality of the retina created_by: hecht creation_date: 2012-07-07T11:24:39Z [Term] id: HP:0011959 name: Unilateral hypoplasia of pectoralis major muscle def: "Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest." [HPO:probinson] is_a: HP:0011957 ! Abnormality of the pectoral muscle property_value: HP:0040005 "Hypoplasia (underdevelopment) of the `pectoralis minor` (FMA:13109) on only one side of the chest." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-06-22T08:13:12Z [Term] id: HP:0011960 name: Substantia nigra gliosis def: "The presence of gliosis in the substantia nigra." [HPO:probinson] is_a: HP:0002171 ! Gliosis is_a: HP:0045007 ! Abnormality of the substantia nigra property_value: HP:0040005 "The presence of `gliosis` (MPATH:182) in the `substantia nigra` (FMA:67947)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-16T11:50:42Z [Term] id: HP:0011961 name: Non-obstructive azoospermia def: "Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] synonym: "Testicular azoospermia" EXACT [] is_a: HP:0000027 ! Azoospermia created_by: peter creation_date: 2012-07-16T12:22:54Z [Term] id: HP:0011962 name: Obstructive azoospermia def: "Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy." [HPO:probinson, pmid:20514278] is_a: HP:0000027 ! Azoospermia created_by: peter creation_date: 2012-07-16T12:25:35Z [Term] id: HP:0011963 name: Pretesticular azoospermia def: "Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels." [HPO:probinson, pmid:20514278] is_a: HP:0000027 ! Azoospermia created_by: peter creation_date: 2012-07-16T12:28:55Z [Term] id: HP:0011964 name: Intermittent painful muscle spasms def: "History of repeated intermittent involuntary muscle contractions that were painful." [HPO:probinson] is_a: HP:0004305 ! Involuntary movements created_by: peter creation_date: 2012-07-16T01:17:16Z [Term] id: HP:0011965 name: Abnormality of citrulline metabolism def: "Abnormality of a metabolism or concentration of citrulline." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "Abnormality of a metabolism or concentration of `citrulline` (CHEBI:18211)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T08:21:59Z [Term] id: HP:0011966 name: Elevated plasma citrulline def: "An increased concentration of citrulline in the blood." [HPO:probinson] is_a: HP:0011965 ! Abnormality of citrulline metabolism property_value: HP:0040005 "An increased concentration of `citrulline` (CHEBI:18211) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T08:23:22Z [Term] id: HP:0011967 name: Hypocupremia def: "A reduced concentration of copper in the blood." [HPO:probinson] is_a: HP:0010836 ! Abnormality of copper homeostasis property_value: HP:0040005 "A reduced concentration of `copper` (CHEBI:28694) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T08:29:13Z [Term] id: HP:0011968 name: Feeding difficulties def: "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] subset: hposlim_core synonym: "Feeding problems" EXACT [] synonym: "Poor feeding" EXACT [] xref: SNOMEDCT:299698007 "Feeding poor" xref: UMLS:C0232466 "Feeding difficulties" is_a: HP:0011458 ! Abdominal symptom created_by: peter creation_date: 2012-07-18T10:25:05Z [Term] id: HP:0011969 name: Elevated luteinizing hormone def: "An elevated concentration of luteinizing hormone in the blood." [HPO:probinson] is_a: HP:0000837 ! Gonadotropin excess created_by: peter creation_date: 2012-07-18T08:36:09Z [Term] id: HP:0011970 name: Cerebral amyloid angiopathy def: "Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system." [HPO:probinson, pmid:21519520] comment: Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. is_a: HP:0011034 ! Amyloidosis created_by: peter creation_date: 2012-07-18T08:39:48Z [Term] id: HP:0011971 name: Dermatographic urticaria def: "An exaggerated wealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor)." [HPO:probinson] synonym: "Dermatographism" EXACT [] is_a: HP:0001025 ! Urticaria created_by: peter creation_date: 2012-07-18T08:42:25Z [Term] id: HP:0011972 name: Hypoglycorrhachia def: "Abnormally low glucose concentration content in the cerebrospinal fluid." [HPO:probinson] synonym: "Decreased CSF glucose" EXACT [] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: peter creation_date: 2012-07-18T08:45:55Z [Term] id: HP:0011973 name: Paroxysmal lethargy def: "Repeated episodes of sudden-onset and transient lethargy." [HPO:probinson] is_a: HP:0001254 ! Lethargy property_value: HP:0040005 "Repeated episodes of sudden-onset and transient `lethargy` (HP:0001254)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T08:48:06Z [Term] id: HP:0011974 name: Myelofibrosis def: "Replacement of bone marrow by fibrous tissue." [HPO:probinson] xref: MeSH:D055728 "Primary Myelofibrosis" is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow created_by: peter creation_date: 2012-07-18T08:51:57Z [Term] id: HP:0011975 name: Aminoglycoside-induced hearing loss def: "Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics." [HPO:probinson, pmid:2669624] comment: The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth. is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2012-07-18T08:55:03Z [Term] id: HP:0011976 name: Elevated urinary catecholamines def: "An increased concentration of catecholamine in the urine." [HPO:probinson] is_a: HP:0011281 ! Abnormality of urine catecholamine concentration property_value: HP:0040005 "An increased concentration of `catecholamine` (CHEBI:33567) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T09:07:22Z [Term] id: HP:0011977 name: Elevated urinary homovanillic acid def: "An increased concentration of homovanillic acid in the urine." [HPO:probinson] synonym: "Increased urinary homovanillic acid" RELATED [] is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `homovanillic acid` (CHEBI:545959) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T09:10:06Z [Term] id: HP:0011978 name: Elevated urinary vanillylmandelic acid def: "An increased concentration of vanillylmandelic acid in the urine." [HPO:probinson] synonym: "Increased urinary vanillylmandelic acid" RELATED [] is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `vanillylmandelic acid` (CHEBI:20106) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T09:11:52Z [Term] id: HP:0011979 name: Elevated urinary dopamine def: "An increased concentration of dopamine in the urine." [HPO:probinson] is_a: HP:0011976 ! Elevated urinary catecholamines property_value: HP:0040005 "An increased concentration of `dopamine` (CHEBI:18243) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-18T09:13:16Z [Term] id: HP:0011980 name: Cholesterol gallstones def: "Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color." [HPO:probinson, pmid:12950109, pmid:16844493] is_a: HP:0001081 ! Cholelithiasis created_by: peter creation_date: 2012-07-18T09:16:15Z [Term] id: HP:0011981 name: Pigment gallstones def: "Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration." [HPO:probinson, pmid:12950109] is_a: HP:0001081 ! Cholelithiasis created_by: peter creation_date: 2012-07-18T09:18:44Z [Term] id: HP:0011982 name: Black pigment gallstones def: "A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates." [HPO:probinson, pmid:12950109] is_a: HP:0011981 ! Pigment gallstones created_by: peter creation_date: 2012-07-18T09:25:05Z [Term] id: HP:0011983 name: Brown pigment gallstones def: "A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones." [HPO:probinson, pmid:12950109] is_a: HP:0011981 ! Pigment gallstones created_by: peter creation_date: 2012-07-18T09:26:55Z [Term] id: HP:0011984 name: Atretic gallbladder def: "Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia." [HPO:probinson] synonym: "Gallbladder atresia" EXACT [] is_a: HP:0011466 ! Aplasia/Hypoplasia of the gallbladder created_by: peter creation_date: 2012-07-19T10:26:35Z [Term] id: HP:0011985 name: Acholic stools alt_id: HP:0200112 def: "Clay colored stools lacking bile pigment." [HPO:probinson] synonym: "Acholia" EXACT [] synonym: "Discolored, acholic stools" EXACT [] is_a: HP:0001396 ! Cholestasis created_by: peter creation_date: 2012-07-19T10:31:22Z [Term] id: HP:0011986 name: Ectopic ossification def: "Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist." [HPO:probinson] synonym: "Ectopic bone formation" EXACT [] synonym: "Heterotopic ossification" EXACT [] xref: MedDRA:10065453 "Ectopic ossification" xref: MeSH:D009999 "Ossification, Heterotopic" xref: UMLS:C0029396 "Ectopic ossification" is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2012-07-19T10:38:25Z [Term] id: HP:0011987 name: Ectopic ossification in muscle tissue def: "Formation of abnormal bony tissue within muscle tissue." [HPO:probinson] is_a: HP:0011986 ! Ectopic ossification property_value: HP:0040005 "Formation of abnormal bony tissue within `muscle` (FMA:30316) tissue." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-19T10:46:03Z [Term] id: HP:0011988 name: Ectopic ossification in tendon tissue def: "Formation of abnormal bony tissue within tendon tissue." [HPO:probinson] is_a: HP:0011986 ! Ectopic ossification property_value: HP:0040005 "Formation of abnormal bony tissue within `tendon` (FMA:9721) tissue." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-19T10:47:01Z [Term] id: HP:0011989 name: Ectopic ossification in ligament tissue def: "Formation of abnormal bony tissue within ligament tissue." [HPO:probinson] is_a: HP:0011986 ! Ectopic ossification property_value: HP:0040005 "Formation of abnormal bony tissue within `ligament` (FMA:30319) tissue." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-19T10:48:31Z [Term] id: HP:0011990 name: Abnormality of neutrophil physiology def: "A functional abnormality of neutrophils." [HPO:probinson] is_a: HP:0001874 ! Abnormality of neutrophils created_by: peter creation_date: 2012-07-19T10:56:37Z [Term] id: HP:0011991 name: Abnormal neutrophil cell number def: "A deviation from the normal range of neutrophil cell counts in the circulation." [HPO:probinson] is_a: HP:0001874 ! Abnormality of neutrophils created_by: peter creation_date: 2012-07-19T10:59:14Z [Term] id: HP:0011992 name: Abnormality of neutrophil morphology def: "An abnormal form or size of neutrophils." [HPO:probinson] is_a: HP:0001874 ! Abnormality of neutrophils created_by: peter creation_date: 2012-07-19T11:00:27Z [Term] id: HP:0011993 name: Impaired neutrophil bactericidal activity def: "A reduction in the ability of neutrophils to kill bacteria." [HPO:probinson] is_a: HP:0011990 ! Abnormality of neutrophil physiology created_by: peter creation_date: 2012-07-19T11:01:32Z [Term] id: HP:0011994 name: Abnormality of the atrial septum def: "An abnormality of the interatrial septum." [HPO:probinson] is_a: HP:0001671 ! Abnormality of the cardiac septa property_value: HP:0040005 "An abnormality of the `interatrial septum` (FMA:7108)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-19T11:34:27Z [Term] id: HP:0011995 name: Atrial septal aneurysm def: "A bulging of the interatrial septum towards one side. IN adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." [HPO:probinson, pmid:7758185] comment: Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation. is_a: HP:0011994 ! Abnormality of the atrial septum property_value: HP:0040005 "A bulging of the `interatrial septum` (FMA:7108) towards one side. IN adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography." xsd:string {xref="HPO:probinson", xref="pmid:7758185"} created_by: peter creation_date: 2012-07-19T11:35:07Z [Term] id: HP:0011996 name: Elevated factor V activity def: "Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [HPO:probinson] synonym: "Plasma factor V elevated" EXACT [] is_a: HP:0010990 ! Abnormality of the common coagulation pathway created_by: peter creation_date: 2012-07-19T11:40:31Z [Term] id: HP:0011997 name: Postprandial hyperlactemia def: "Abnormally increased level of blood lactate following a meal." [HPO:probinson] is_a: HP:0002151 ! Increased serum lactate property_value: HP:0040005 "Abnormally increased level of blood `lactate` (CHEBI:24996) following a meal." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-19T12:06:39Z [Term] id: HP:0011998 name: Postprandial hyperglycemia def: "An increased concentration of glucose in the blood following a meal." [HPO:probinson] is_a: HP:0003074 ! Hyperglycemia property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) following a meal." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-19T12:07:59Z [Term] id: HP:0011999 name: Paranoia def: "A persecutory delusion of supposed hostility of others." [HPO:probinson] xref: MeSH:D010259 "Paranoid Disorders" is_a: HP:0000746 ! Delusions created_by: peter creation_date: 2012-07-19T01:00:23Z [Term] id: HP:0012000 name: EEG with generalized spikes def: "EEG with generalized sharp transient waves of a duration less than 80 msec." [HPO:jalbers] is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2012-07-20T11:39:52Z [Term] id: HP:0012001 name: EEG with generalized polyspikes def: "EEG with repetitive generalized sharp transient waves of a duration less than 80 msec." [HPO:jalbers] is_a: HP:0011198 ! EEG with generalized epileptiform discharges created_by: hecht creation_date: 2012-07-20T11:41:07Z [Term] id: HP:0012002 name: Experiential auras def: "Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. is_a: HP:0011157 ! Auras created_by: hecht creation_date: 2012-07-20T11:50:13Z [Term] id: HP:0012003 name: Affective auras def: "Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:52:11Z [Term] id: HP:0012004 name: Mnemonic auras def: "Auras which reflect ictal dysmnesia such as: feelings as familiarity (d??j??-vu) and unfamiliarity (jamais-vu)." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:53:39Z [Term] id: HP:0012005 name: Deja vu def: "A subjective feeling that an experience which is occurring for the first time has been experienced before." [HPO:probinson] xref: MeSH:D003690 "Deja Vu" is_a: HP:0012004 ! Mnemonic auras created_by: hecht creation_date: 2012-07-20T11:54:16Z [Term] id: HP:0012006 name: Jamais vu def: "A subjective feeling that an experience which has occurred before is being experienced for the first time." [HPO:probinson] is_a: HP:0012004 ! Mnemonic auras created_by: hecht creation_date: 2012-07-20T11:55:38Z [Term] id: HP:0012007 name: Hallucinatory auras def: "Auras with creation of composite perceptions without corresponding external stimuli involving visual, auditory, somatosensory, olfactory and/or gustatory phenomena." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:56:47Z [Term] id: HP:0012008 name: Illusory auras def: "Auras with an alteration of actual percepts involving the visual, auditory, somatosensory, olfactory or gustatory systems." [HPO:probinson] comment: See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org. is_a: HP:0012002 ! Experiential auras created_by: hecht creation_date: 2012-07-20T11:57:32Z [Term] id: HP:0012009 name: EEG with central focal spike waves def: "EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T11:58:18Z [Term] id: HP:0012010 name: EEG with frontal focal spike waves def: "EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T11:59:21Z [Term] id: HP:0012011 name: EEG with occipital focal spike waves def: "EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T11:59:43Z [Term] id: HP:0012012 name: EEG with parietal focal spike waves def: "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T12:00:43Z [Term] id: HP:0012013 name: EEG with temporal focal spike waves def: "EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:jalbers] is_a: HP:0011197 ! EEG with focal spike waves created_by: hecht creation_date: 2012-07-20T12:01:01Z [Term] id: HP:0012014 name: EEG with central focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the central region." [HPO:jalbers] is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:01:29Z [Term] id: HP:0012015 name: EEG with frontal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region." [HPO:jalbers] is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:12Z [Term] id: HP:0012016 name: EEG with occipital focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region." [HPO:jalbers] is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:28Z [Term] id: HP:0012017 name: EEG with parietal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region." [HPO:jalbers] is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:43Z [Term] id: HP:0012018 name: EEG with temporal focal spikes def: "EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region." [HPO:jalbers] is_a: HP:0011193 ! EEG with focal spikes created_by: hecht creation_date: 2012-07-20T12:02:59Z [Term] id: HP:0012019 name: Lens luxation def: "Complete dislocation of the lens of the eye." [HPO:probinson] is_a: HP:0001083 ! Ectopia lentis created_by: peter creation_date: 2012-07-26T10:40:02Z [Term] id: HP:0012020 name: Right aortic arch def: "Aorta descends on right instead of on the left." [HPO:probinson] comment: The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm. synonym: "Right-sided aortic arch" EXACT [] is_a: HP:0011587 ! Abnormal branching pattern of the aortic arch created_by: peter creation_date: 2012-07-26T09:25:32Z [Term] id: HP:0012021 name: Persistent patent ductus venosus def: "Persistence of blood flow through the ductus venosus for longer than the normal time after birth." [HPO:probinson, pmid:16449256] comment: The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2012-07-26T10:10:58Z [Term] id: HP:0012022 name: Congenital portosystemic venous shunt def: "A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver)." [HPO:probinson] is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system created_by: peter creation_date: 2012-07-26T10:16:40Z [Term] id: HP:0012023 name: Galactosuria def: "Elevated concentration of galactose in the urine." [HPO:probinson] is_a: HP:0004915 ! Impairment of galactose metabolism property_value: HP:0040005 "Elevated concentration of `galactose` (CHEBI:28260) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-26T10:31:35Z [Term] id: HP:0012024 name: Hypergalactosemia def: "Elevated concentration of galactose in the blood." [HPO:probinson] comment: Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400). synonym: "Galactosemia" RELATED [] is_a: HP:0004915 ! Impairment of galactose metabolism property_value: HP:0040005 "Elevated concentration of `galactose` (CHEBI:28260) in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-26T10:35:58Z [Term] id: HP:0012025 name: Abnormality of ornithine metabolism def: "Abnormality of a metabolism or concentration of ornithine." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "Abnormality of a metabolism or concentration of `ornithine` (CHEBI:18257)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-26T10:48:59Z [Term] id: HP:0012026 name: Hyperornithinemia def: "Increased concentration of ornithine in the blood." [HPO:probinson] is_a: HP:0012025 ! Abnormality of ornithine metabolism property_value: HP:0040005 "Increased concentration of `ornithine` (CHEBI:18257) in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-26T10:49:54Z [Term] id: HP:0012027 name: Laryngeal edema def: "An abnormal accumulation of fluid and swelling in the tissues of the larynx." [HPO:probinson] is_a: HP:0000969 ! Edema is_a: HP:0001600 ! Abnormality of the larynx property_value: HP:0040005 "An abnormal accumulation of fluid and swelling in the tissues of the `larynx` (FMA:55097)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-26T10:51:45Z [Term] id: HP:0012028 name: Hepatocellular adenoma def: "A benign tumor of the liver of presumably epithelial origin." [HPO:probinson] synonym: "Hepatic adenoma" EXACT [] synonym: "Liver cell adenoma" EXACT [] xref: MPATH:MPATH\:353 "hepatocellular adenoma" is_a: HP:0002896 ! Neoplasm of the liver created_by: peter creation_date: 2012-07-27T01:24:44Z [Term] id: HP:0012029 name: Abnormality of urine hormone level def: "An abnormal concentration of a hormone in the urine." [HPO:probinson] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: HP:0040005 "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of a `hormone` (CHEBI:24621) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-27T01:29:51Z [Term] id: HP:0012030 name: Increased urinary cortisol level def: "Abnormally increased concentration of cortisol in the urine." [HPO:probinson] is_a: HP:0002919 ! Ketonuria is_a: HP:0012029 ! Abnormality of urine hormone level property_value: HP:0040005 "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-27T01:30:44Z [Term] id: HP:0012031 name: Lipomatous tumor xref: MPATH:415 "lipomatous tumor" is_a: HP:0200013 ! Neoplasm of fatty tissue created_by: peter creation_date: 2012-07-27T01:32:28Z [Term] id: HP:0012032 name: Lipoma def: "Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous." [MPATH:417] subset: hposlim_core xref: MEDRA:10024612 "Lipoma" xref: MeSH:D008067 "Lipoma" xref: MPATH:MPATH\:417 "lipoma" xref: SNOMEDCT:93163002 "Lipoma" xref: UMLS:C0023798 "Lipoma" is_a: HP:0012031 ! Lipomatous tumor created_by: peter creation_date: 2012-07-27T01:33:13Z [Term] id: HP:0012033 name: Sacral lipoma def: "Presence of a lipoma in the region of the sacrum." [HPO:probinson] is_a: HP:0012032 ! Lipoma created_by: peter creation_date: 2012-07-27T01:37:57Z [Term] id: HP:0012034 name: Liposarcoma def: "Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway." [MPATH:418] xref: MPATH:418 "Liposarcoma" is_a: HP:0012031 ! Lipomatous tumor created_by: peter creation_date: 2012-07-27T01:40:25Z [Term] id: HP:0012035 name: Steatocystoma multiplex def: "Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities)." [HPO:probinson, pmid:20631281] comment: Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement. is_a: HP:0008069 ! Neoplasm of the skin created_by: peter creation_date: 2012-07-27T01:45:14Z [Term] id: HP:0012036 name: Sternocleidomastoid amyotrophy def: "Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head." [HPO:probinson] is_a: HP:0003202 ! Skeletal muscle atrophy property_value: HP:0040005 "Wasting of the `sternocleidomastoid muscle` (FMA:13407), the muscle in the anterior part of the neck that acts to flex and rotate the head." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-27T01:51:24Z [Term] id: HP:0012037 name: Pectoralis amyotrophy def: "Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor." [HPO:probinson] is_a: HP:0003202 ! Skeletal muscle atrophy is_a: HP:0011957 ! Abnormality of the pectoral muscle created_by: peter creation_date: 2012-07-27T01:55:38Z [Term] id: HP:0012038 name: Corneal guttata def: "Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible." [HPO:probinson, pmid:10611102, pmid:11222329] comment: Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy. synonym: "Corneal endothelial guttata" EXACT [] is_a: HP:0011490 ! Abnormality of Descemet's membrane created_by: peter creation_date: 2012-07-27T02:06:24Z [Term] id: HP:0012039 name: Descemet Membrane Folds def: "Presence of folds in the Descement membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descement membrane folds are generally a manifestation of inflammation or edema of the cornea." [HPO:probinson] is_a: HP:0011490 ! Abnormality of Descemet's membrane created_by: peter creation_date: 2012-07-27T02:14:55Z [Term] id: HP:0012040 name: Corneal stromal edema def: "Abnormal accumulation of fluid and swelling of the stroma of cornea." [HPO:probinson] is_a: HP:0000969 ! Edema is_a: HP:0011492 ! Abnormality of corneal stroma property_value: HP:0040005 "Abnormal accumulation of fluid and swelling of the `stroma of cornea` (FMA:58306)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-07-27T02:19:25Z [Term] id: HP:0012041 name: Decreased fertility in males is_a: HP:0000144 ! Decreased fertility created_by: peter creation_date: 2012-07-30T06:50:19Z [Term] id: HP:0012042 name: Aspirin-induced asthma def: "A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction." [pmid:12743549] xref: MeSH:D055963 "Asthma, Aspirin-Induced" is_a: HP:0002099 ! Asthma created_by: peter creation_date: 2012-08-01T11:22:04Z [Term] id: HP:0012043 name: Pendular nystagmus def: "Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction." [HPO:probinson] synonym: "NYSTAGMUS, CONTINUOUS PENDULAR" RELATED [HPO:skoehler] synonym: "NYSTAGMUS, PENDULAR" RELATED [HPO:skoehler] is_a: HP:0000639 ! Nystagmus created_by: peter creation_date: 2012-08-01T12:04:00Z [Term] id: HP:0012044 name: Seesaw nystagmus def: "Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements." [HPO:probinson] comment: Seesaw nystagmus can be a manifestation of lesions of the optic chiasma. is_a: HP:0012043 ! Pendular nystagmus created_by: peter creation_date: 2012-08-01T12:06:36Z [Term] id: HP:0012045 name: Retinal flecks def: "Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions." [pmid:7952338] is_a: HP:0000479 ! Abnormality of the retina created_by: peter creation_date: 2012-08-01T12:17:00Z [Term] id: HP:0012046 name: Areflexia of upper limbs def: "Inability to elicit tendon reflexes in the upper limbs." [HPO:probinson] is_a: HP:0001284 ! Areflexia is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2012-08-01T12:24:31Z [Term] id: HP:0012047 name: Hemeralopia def: "A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness." [HPO:probinson] is_a: HP:0000504 ! Abnormality of vision created_by: peter creation_date: 2012-08-01T12:26:28Z [Term] id: HP:0012048 name: Oromandibular dystonia alt_id: HP:0001494 def: "A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech." [HPO:probinson] synonym: "Cranial dystonia" EXACT [] xref: UMLS:C1843266 "Cranial dystonia" is_a: HP:0012179 ! Craniofacial dystonia created_by: peter creation_date: 2012-08-01T12:29:50Z [Term] id: HP:0012049 name: Laryngeal dystonia def: "A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech." [HPO:probinson] synonym: "Spasmodic dysphonia" EXACT [] is_a: HP:0001618 ! Dysphonia is_a: HP:0004373 ! Focal dystonia created_by: peter creation_date: 2012-08-01T12:34:41Z [Term] id: HP:0012050 name: Anasarca def: "An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space." [HPO:probinson] is_a: HP:0007430 ! Generalized edema created_by: peter creation_date: 2012-08-01T12:53:48Z [Term] id: HP:0012051 name: Reactive hypoglycemia def: "Hypoglycermia following a meal (or more generally, after intake of glucose)." [HPO:probinson] comment: Reactive hypoglycemia may be the result of an exaggerated insulin response. synonym: "Postprandial hypoglycemia" EXACT [] is_a: HP:0001943 ! Hypoglycemia created_by: peter creation_date: 2012-08-01T12:57:57Z [Term] id: HP:0012052 name: Low serum calcitriol (1,25-dihydroxycholecalciferol) def: "A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." [HPO:probinson] is_a: HP:0100511 ! Abnormality of vitamin D metabolism property_value: HP:0040005 "A reduced concentration of `calcitriol` (CHEBI:17823) in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-08-01T01:02:39Z [Term] id: HP:0012053 name: Low serum calcifediol (25-hydroxycholecalciferol) def: "A reduced concentration of calcidiol in the blood. Calcidiol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3." [HPO:probinson] is_a: HP:0100511 ! Abnormality of vitamin D metabolism property_value: HP:0040005 "A reduced concentration of `calcidiol` (CHEBI:17933) in the blood. Calcidiol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-08-01T01:04:42Z [Term] id: HP:0012054 name: Choroidal melanoma def: "Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented)." [HPO:probinson, pmid:22557869] is_a: HP:0007716 ! Intraocular melanoma created_by: peter creation_date: 2012-08-01T01:59:00Z [Term] id: HP:0012055 name: Ciliary body melanoma def: "Malignant tumor of melanocytes of the ciliary body." [HPO:probinson] is_a: HP:0007716 ! Intraocular melanoma is_a: HP:0012776 ! Abnormality of the ciliary body created_by: peter creation_date: 2012-08-01T02:01:02Z [Term] id: HP:0012056 name: Cutaneous melanoma def: "The presence of a melanoma of the skin." [HPO:probinson] comment: The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma. is_a: HP:0002861 ! Melanoma is_a: HP:0008069 ! Neoplasm of the skin property_value: HP:0040005 "The presence of a `melanoma` (MPATH:359) of the `skin` (FMA:7163)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-08-01T02:04:21Z [Term] id: HP:0012057 name: Superficial spreading melanoma def: "A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown." [HPO:probinson] is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:07:52Z [Term] id: HP:0012058 name: Nodular melanoma def: "A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color." [HPO:probinson] is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:08:50Z [Term] id: HP:0012059 name: Lentigo maligna melanoma def: "A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging." [HPO:7734995, HPO:probinson] is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:16:45Z [Term] id: HP:0012060 name: Acral lentiginous melanoma def: "A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed." [HPO:probinson] is_a: HP:0012056 ! Cutaneous melanoma created_by: peter creation_date: 2012-08-01T02:17:02Z [Term] id: HP:0012061 name: Urinary excretion of sialylated oligosaccharides def: "Excretion of oligosaccharides conjugated to sialic acid in the urine." [HPO:probinson] synonym: "Increased urinary sialyloligosaccharides" EXACT [] is_a: HP:0010471 ! Oligosacchariduria property_value: HP:0040005 "Excretion of `oligosaccharides` (CHEBI:50699) conjugated to `sialic acid` (CHEBI:26667) in the urine." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-04T02:14:44Z [Term] id: HP:0012062 name: Bone cyst alt_id: HP:0100696 def: "A fluid filled cavity that develops with a bone." [HPO:probinson] comment: Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture. synonym: "Bone cysts" EXACT [] xref: MeSH:D001845 "Bone Cysts" is_a: HP:0003330 ! Abnormal bone structure created_by: hecht creation_date: 2012-08-03T02:35:39Z [Term] id: HP:0012063 name: Aneurysmal bone cyst def: "Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging." [HPO:probinson, pmid:22474093, pmid:7863874] is_a: HP:0012062 ! Bone cyst created_by: hecht creation_date: 2012-08-03T02:35:52Z [Term] id: HP:0012064 name: Unicameral bone cyst def: "A benign fluid filled simple cyst of bone filled with serous fluid." [HPO:probinson] is_a: HP:0012062 ! Bone cyst created_by: hecht creation_date: 2012-08-03T02:42:14Z [Term] id: HP:0012065 name: Multiple bony cystic lesions def: "Presence of multiple cystic changes in multiple ares or multiple bones." [HPO:probinson] is_a: HP:0012062 ! Bone cyst created_by: hecht creation_date: 2012-08-03T02:45:09Z [Term] id: HP:0012066 name: Increased urinary disaccharide excretion def: "Increased concentration of disaccharide in the urine." [HPO:probinson] comment: Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine. is_a: HP:0010471 ! Oligosacchariduria property_value: HP:0040005 "Increased concentration of `disaccharide` (CHEBI:36233) in the urine." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-04T02:54:28Z [Term] id: HP:0012067 name: Glycopeptiduria def: "Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." [HPO:probinson] comment: This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties. is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "Increased excretion of `glycopeptides` (CHEBI:24396) in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-04T03:03:03Z [Term] id: HP:0012068 name: Aspartylglucosaminuria def: "Excretion of excess amounts of aspartylglucosamine in the urine." [HPO:probinson] is_a: HP:0012067 ! Glycopeptiduria created_by: hecht creation_date: 2012-08-04T03:15:37Z [Term] id: HP:0012069 name: Keratan sulfate excretion in urine def: "An increased concentration of keratan sulfate in the urine." [HPO:probinson] comment: Keratan sulfate is a a glycosaminoglycan. is_a: HP:0008155 ! Mucopolysacchariduria property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `keratan sulfate` (CHEBI:60924) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-04T03:20:15Z [Term] id: HP:0012070 name: Chondroitin sulfate excretion in urine def: "An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine." [HPO:probinson] comment: Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage. is_a: HP:0008155 ! Mucopolysacchariduria property_value: HP:0040005 "An `increased concentration` (PATO:0001162) of `chondroitin sulfate (CHEBI:37397) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-04T03:22:36Z [Term] id: HP:0012071 name: Abnormality of acetylcarnitine metabolism def: "An abnormality of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine." [HPO:probinson] comment: Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases. synonym: "Abnormal acetylcarnitine profile" RELATED [] is_a: HP:0010967 ! Abnormality of carnitine metabolism created_by: hecht creation_date: 2012-08-11T09:03:41Z [Term] id: HP:0012072 name: Aciduria def: "Ecretion of urine with an acid pH." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: hecht creation_date: 2012-08-11T09:28:11Z [Term] id: HP:0012073 name: Abnormal urinary acylglycine profile def: "Ab abnormal distribution of N-acylglycines (CHEBI:16180) in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution." [HPO:probinson, pmid:10870848] comment: N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders. is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "Ab abnormal distribution of `N-acylglycines (CHEBI:16180) in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution." xsd:string {xref="HPO:probinson", xref="pmid:10870848"} created_by: hecht creation_date: 2012-08-11T09:46:03Z [Term] id: HP:0012074 name: Tonic pupil def: "An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation." [HPO:probinson] subset: hposlim_core synonym: "Adie pupil" EXACT [] synonym: "Adie's tonic pupil" EXACT [] xref: MeSH:D015845 "Tonic pupil" is_a: HP:0007686 ! Abnormal pupillary function created_by: hecht creation_date: 2012-08-11T09:58:20Z [Term] id: HP:0012075 name: Personality disorder def: "An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder." [HPO:probinson] comment: A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood. xref: ICD-10:F60 "Specific personality disorders" xref: MeSH:D010554 "Personality Disorders" is_a: HP:0000708 ! Behavioral abnormality created_by: hecht creation_date: 2012-08-11T02:20:27Z [Term] id: HP:0012076 name: Borderline personality disorder def: "A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions." [HPO:probinson] xref: ICD-10:F60.3 "Emotionally unstable personality disorder, borderline type" xref: MeSH:D001883 "Borderline Personality Disorder" is_a: HP:0012075 ! Personality disorder created_by: hecht creation_date: 2012-08-11T02:26:02Z [Term] id: HP:0012077 name: Histrionic personality disorder def: "A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention." [ICD-10:F60.4] xref: ICD-10:F60.4 "Histrionic personality disorder" xref: MeSH:D006677 "Histrionic Personality Disorder" is_a: HP:0012075 ! Personality disorder created_by: hecht creation_date: 2012-08-11T02:38:39Z [Term] id: HP:0012078 name: Motor conduction block def: "Blockade of impulses at a focal site along the course of a motor axon." [HPO:probinson] is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0040131 ! Abnormal motor nerve conduction velocity created_by: peter creation_date: 2012-08-18T04:34:49Z [Term] id: HP:0012079 name: Abnormality of central motor conduction def: "Any anomaly of the conduction of motor nerve impulses in the central nervous system." [HPO:probinson, pmid:3572430] comment: Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts. is_a: HP:0011442 ! Abnormality of central motor function created_by: peter creation_date: 2012-08-18T04:41:05Z [Term] id: HP:0012080 name: Cerebellar granular layer atrophy def: "Atrophy of the cerebellum affecting primarily the granular cell layer." [HPO:probinson] is_a: HP:0001272 ! Cerebellar atrophy created_by: peter creation_date: 2012-08-18T05:23:55Z [Term] id: HP:0012081 name: Enlarged cerebellum def: "An abnormally increased size of the cerebellum compared to other brain structures." [HPO:probinson] is_a: HP:0001317 ! Abnormality of the cerebellum created_by: peter creation_date: 2012-08-18T05:29:26Z [Term] id: HP:0012082 name: Cerebellar Purkinje layer atrophy def: "Atrophy of the cerebellum affecting primarily the Purkinje cell layer." [HPO:probinson] is_a: HP:0001272 ! Cerebellar atrophy created_by: peter creation_date: 2012-08-18T05:31:43Z [Term] id: HP:0012083 name: Ubiquitin-positive cerebral inclusion bodies def: "Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain." [HPO:probinson] is_a: HP:0100314 ! Cerebral inclusion bodies created_by: peter creation_date: 2012-08-18T05:34:56Z [Term] id: HP:0012084 name: Abnormality of skeletal muscle fiber size def: "Any abnormality of the size of the skeletal muscle cell." [HPO:probinson] is_a: HP:0004303 ! Abnormality of muscle fibers property_value: HP:0040005 "Any abnormality of the size of the `skeletal muscle cell` (FMA:9727)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-08-20T03:19:54Z [Term] id: HP:0012085 name: Pyuria def: "Presence of an increased number of neutrophils in the urine." [HPO:probinson] is_a: HP:0012614 ! Abnormal urine cytology created_by: peter creation_date: 2012-08-20T09:10:26Z [Term] id: HP:0012086 name: Abnormal urinary color def: "An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color." [HPO:probinson] synonym: "Abnormal urinary colour" EXACT [] is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2012-08-20T09:12:30Z [Term] id: HP:0012087 name: Abnormal mitochondrial shape def: "An anomaly in the surface contour of mitochondria." [HPO:probinson, MP:0011633] is_a: HP:0008322 ! Abnormal mitochondrial morphology created_by: peter creation_date: 2012-09-08T11:02:39Z [Term] id: HP:0012088 name: Abnormal urinary odor def: "A deviation from the normal odor of the urine." [HPO:probinson] comment: Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine. synonym: "Abnormal urinary odour" EXACT [] is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2012-08-20T09:13:26Z [Term] id: HP:0012089 name: Arteritis def: "Arterial inflammation." [HPO:probinson] xref: MeSH:D001167 "Arteritis" is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2012-08-20T09:15:19Z [Term] id: HP:0012090 name: Abnormality of pancreas morphology is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2012-08-20T09:16:38Z [Term] id: HP:0012091 name: Abnormality of pancreas physiology def: "An anomaly of the function of the pancreas." [HPO:probinson] is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2012-08-20T09:17:10Z [Term] id: HP:0012092 name: Abnormality of exocrine pancreas physiology def: "A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes." [HPO:probinson] synonym: "Abnormal exocrine pancreatic function" EXACT [HPO:skoehler] is_a: HP:0012091 ! Abnormality of pancreas physiology created_by: peter creation_date: 2012-08-20T09:17:46Z [Term] id: HP:0012093 name: Abnormality of endocrine pancreas physiology def: "A function abnormality of the endocrine pancreas." [HPO:probinson] is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0012091 ! Abnormality of pancreas physiology created_by: peter creation_date: 2012-08-20T09:18:18Z [Term] id: HP:0012094 name: Abnormal pancreas size def: "A deviation from the normal size of the pancreas." [HPO:probinson] is_a: HP:0012090 ! Abnormality of pancreas morphology created_by: peter creation_date: 2012-08-20T09:19:08Z [Term] id: HP:0012095 name: Multiple joint dislocation def: "Dislocation of many joints." [HPO:probinson] synonym: "MULTIPLE JOINT DISLOCATIONS" RELATED [HPO:skoehler] is_a: HP:0001373 ! Joint dislocation created_by: peter creation_date: 2012-08-20T09:19:52Z [Term] id: HP:0012096 name: Intracranial epidermoid cyst def: "A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development." [HPO:probinson, pmid:16714456] comment: See Figure 8 in pmid:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages. is_a: HP:0010576 ! Intracranial cystic lesion created_by: peter creation_date: 2012-08-20T09:21:24Z [Term] id: HP:0012097 name: Intracranial dermoid cyst def: "A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands." [HPO:probinson, pmid:16714456] comment: See Figure 9 in pmid:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death. is_a: HP:0010576 ! Intracranial cystic lesion created_by: peter creation_date: 2012-08-20T09:22:25Z [Term] id: HP:0012098 name: Edema of the dorsum of feet def: "An abnormal accumulation of fluid beneath the skin on the back of the feet." [HPO:probinson] synonym: "Edema of dorsum of feet" EXACT [] is_a: HP:0000969 ! Edema created_by: peter creation_date: 2012-08-20T09:33:33Z [Term] id: HP:0012099 name: Abnormality of circulating catecholamine level def: "An abnormal catecholamine concentration in the blood." [HPO:probinson] synonym: "Catecholamine levels abnormal" EXACT [] is_a: HP:0003117 ! Abnormality of circulating hormone level property_value: HP:0040005 "An abnormal `catecholamine` (CHEBI:33567) concentration in the blood." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-22T08:20:01Z [Term] id: HP:0012100 name: Abnormal circulating creatinine level def: "An abnormal concentration of creatinine in the blood." [HPO:probinson] synonym: "Creatinine levels abnormal" EXACT [] is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis property_value: HP:0040005 "An abnormal concentration of `creatinine` (CHEBI:16737) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-22T08:40:14Z [Term] id: HP:0012101 name: Decreased serum creatinine def: "An abnormally reduced amount of creatinine in the blood." [HPO:probinson] synonym: "Reduced creatinine levels" EXACT [] is_a: HP:0012100 ! Abnormal circulating creatinine level property_value: HP:0040005 "An abnormally reduced amount of `creatinine` (CHEBI:16737) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-08-22T08:42:16Z [Term] id: HP:0012102 name: Abnormal mitochondrial number def: "A deviation from the normal number of mitochondria per cell." [HPO:probinson] is_a: HP:0008322 ! Abnormal mitochondrial morphology created_by: peter creation_date: 2012-09-08T11:03:33Z [Term] id: HP:0012103 name: Abnormality of the mitochondrion def: "An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration." [HPO:probinson] synonym: "MITOCHONDRIAL ABNORMALITIES" RELATED [HPO:skoehler] xref: MeSH:D028361 "Mitochondrial Diseases" is_a: HP:0011017 ! Abnormality of cell physiology property_value: HP:0040005 "An anomaly of the `mitochondrion` (FMA:63835), the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The `mitochondrion` (GO:0005739) is a self replicating organelle that is the site of tissue respiration." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-09-08T11:05:06Z [Term] id: HP:0012104 name: Parietal cortical atrophy def: "Atrophy of the parietal cortex." [HPO:probinson] is_a: HP:0002120 ! Cerebral cortical atrophy property_value: HP:0040005 "Atrophy of the `parietal cortex` (FMA:61826)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-09-08T02:50:05Z [Term] id: HP:0012105 name: Occipital cortical atrophy def: "Atrophy of the occipital cortex." [HPO:probinson] is_a: HP:0002120 ! Cerebral cortical atrophy property_value: HP:0040005 "Atrophy of the `occipital cortex` (FMA:67325)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-09-08T02:50:53Z [Term] id: HP:0012106 name: Rhizomelic leg shortening def: "Disproportionate shortening of the proximal segment of the leg (i.e. the femur)." [HPO:probinson] xref: UMLS:C1969532 "Rhizomelic arm shortening" is_a: HP:0008905 ! Rhizomelia created_by: peter creation_date: 2012-09-08T03:53:33Z [Term] id: HP:0012107 name: Increased fibular diameter alt_id: HP:0200082 def: "Increased width of the cross sectional diameter of the fibula." [HPO:probinson, MP:0008159] synonym: "Thick fibula" EXACT [] synonym: "Thick fibulae" EXACT [] synonym: "Wide fibula" EXACT [] is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0005622 ! Broad long bones is_a: HP:0040066 ! Abnormal morphology of bones of the lower limbs created_by: peter creation_date: 2012-09-08T04:03:50Z [Term] id: HP:0012108 name: Primary open angle glaucoma def: "A type of glaucoma with optic nerve damage in an eye with evidence of significant obstruction of the functional trabecular meshwork by the peripheral iris would be classified as having primary angle closure." [HPO:probinson, pmid:11815354] comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. is_a: HP:0000501 ! Glaucoma created_by: peter creation_date: 2012-09-10T05:17:24Z [Term] id: HP:0012109 name: Primary angle closure glaucoma def: "A type of glaucoma with optic nerve damage in an eye that has evidence of angle closure and in which there is no evidence of a secondary cause." [HPO:probinson, pmid:11815354] comment: Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis. is_a: HP:0000501 ! Glaucoma created_by: peter creation_date: 2012-09-10T05:22:48Z [Term] id: HP:0012110 name: Hypoplasia of the pons def: "Underdevelopment of the pons." [HPO:probinson] synonym: "Pontine hypoplasia" EXACT [] is_a: HP:0007361 ! Abnormality of the pons property_value: HP:0040005 "Underdevelopment of the `pons` (FMA:67943)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-09-10T05:35:36Z [Term] id: HP:0012111 name: Abnormality of circulating glucocorticoid level def: "An abnormality of the concentration of a glucocorticoid in the blood." [HPO:probinson] is_a: HP:0003117 ! Abnormality of circulating hormone level property_value: HP:0040005 "An abnormality of the concentration of a `glucocorticoid` (CHEBI:24261) in the blood." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T04:22:26Z [Term] id: HP:0012112 name: Abnormality of circulating corticosterone level def: "An abnormality of the concentration of corticosterone in the blood." [HPO:probinson] is_a: HP:0012111 ! Abnormality of circulating glucocorticoid level property_value: HP:0040005 "An abnormality of the concentration of `corticosterone` (CHEBI:16827) in the blood." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T04:23:55Z [Term] id: HP:0012113 name: Abnormality of creatine metabolism def: "An anomaly of the concentration or homeostasis of creatine. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson] synonym: "Creatine metabolism abnormal" RELATED [] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "An anomaly of the concentration or homeostasis of `creatine` (CHEBI:16919). Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T04:29:41Z [Term] id: HP:0012114 name: Endometrial carcinoma def: "A carcinoma of the endometrium, the mucous lining of the uterus." [HPO:probinson] xref: MeSH:D016889 "Endometrial Neoplasms" is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0030126 ! Abnormality of the endometrium created_by: hecht creation_date: 2012-09-16T04:37:32Z [Term] id: HP:0012115 name: Hepatitis def: "Inflammation of the liver." [HPO:probinson] synonym: "Liver inflammation" EXACT [] xref: MeSH:D006505 "Hepatitis" is_a: HP:0001392 ! Abnormality of the liver created_by: hecht creation_date: 2012-09-16T05:03:29Z [Term] id: HP:0012116 name: Abnormal albumin level def: "Deviation from normal concentration of albumin in the blood." [HPO:probinson] is_a: HP:0010876 ! Abnormality of circulating protein level property_value: HP:0040005 "Deviation from normal concentration of `albumin` (PR:000003918) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T05:14:53Z [Term] id: HP:0012117 name: Hyperalbuminemia def: "Elevation in the concentration of albumin in the blood." [HPO:probinson] synonym: "Hyperalbuminaemia" EXACT [] is_a: HP:0012116 ! Abnormal albumin level property_value: HP:0040005 "Elevation in the concentration of `albumin` (PR:000003918) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T05:15:41Z [Term] id: HP:0012118 name: Laryngeal carcinoma def: "A carcinoma of the larynx." [HPO:probinson] comment: Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms. synonym: "Cancer of the larynx" EXACT [] synonym: "Laryngeal cancer" EXACT [] xref: MeSH:D007822 "Laryngeal Neoplasms" is_a: HP:0100605 ! Neoplasm of the larynx created_by: hecht creation_date: 2012-09-16T05:28:05Z [Term] id: HP:0012119 name: Methemoglobinemia def: "Abnormally increased levels of Methemoglobinemia in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues." [HPO:probinson] is_a: HP:0011902 ! Abnormal hemoglobin created_by: hecht creation_date: 2012-09-16T05:42:35Z [Term] id: HP:0012120 name: Methylmalonic aciduria def: "Increased concentration of methylmalonic acid in the urine." [HPO:probinson] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. synonym: "Methymalonicaciduria" EXACT [] xref: UMLS:C1855119 "Methymalonicaciduria" is_a: HP:0003215 ! Dicarboxylic aciduria property_value: HP:0040005 "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the urine." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T06:02:23Z [Term] id: HP:0012121 name: Panuveitis def: "Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid." [HPO:probinson] is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:23:34Z [Term] id: HP:0012122 name: Anterior uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber." [HPO:probinson] is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:24:32Z [Term] id: HP:0012123 name: Posterior uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid." [HPO:probinson] is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:25:06Z [Term] id: HP:0012124 name: Intermediate uveitis def: "Inflammation of the uveal tract in which the primary site of inflammation is the vitreous." [HPO:probinson] is_a: HP:0000554 ! Uveitis created_by: hecht creation_date: 2012-09-16T06:25:53Z [Term] id: HP:0012125 name: Prostate cancer def: "A cancer of the prostate." [HPO:probinson] synonym: "Prostatic cancer" EXACT [] xref: MeSH:D011471 "Prostatic Neoplasms" is_a: HP:0100787 ! Prostate neoplasm property_value: HP:0040005 "A cancer of the `prostate` (FMA:9600)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T06:33:32Z [Term] id: HP:0012126 name: Stomach cancer def: "A cancer arising in any part of the stomach." [HPO:probinson] synonym: "Gastric cancer" EXACT [] xref: MeSH:D013274 "Stomach Neoplasms" is_a: HP:0006753 ! Neoplasm of the stomach created_by: hecht creation_date: 2012-09-16T06:45:29Z [Term] id: HP:0012127 name: Uraciluria def: "Increased concentration of uracil in the urine." [HPO:probinson] is_a: HP:0004353 ! Abnormality of pyrimidine metabolism property_value: HP:0040005 "Increased concentration of `uracil` (CHEBI:17568) in the urine." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T06:53:53Z [Term] id: HP:0012128 name: Basal ganglia necrosis def: "Death of cells in the basal ganglia." [HPO:probinson] is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: HP:0040005 "Death of cells in the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2012-09-16T07:00:22Z [Term] id: HP:0012129 name: Abnormality of bone marrow stromal cells is_a: HP:0005561 ! Abnormality of bone marrow cell morphology created_by: peter creation_date: 2012-09-16T07:13:26Z [Term] id: HP:0012130 name: Abnormality of cells of the erythroid lineage def: "An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes." [DDD:akelly] is_a: HP:0005561 ! Abnormality of bone marrow cell morphology property_value: HP:0040005 "An anomaly of `erythroid lineage cells` (CL:0000764), that is, of the erythropoietic cells in the lineage leading to and including erythrocytes." xsd:string {xref="DDD:akelly"} created_by: peter creation_date: 2012-09-16T07:14:03Z [Term] id: HP:0012131 name: Abnormal number of erythroid precursors def: "A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly] is_a: HP:0001877 ! Abnormality of erythrocytes is_a: HP:0012130 ! Abnormality of cells of the erythroid lineage property_value: HP:0040005 "A deviation from the normal count of erythroid precursor cells, that is, `erythroid lineage cells` (CL:0000764) in the bone marrow." xsd:string {xref="DDD:akelly"} created_by: peter creation_date: 2012-09-16T07:17:18Z [Term] id: HP:0012132 name: Erythroid hyperplasia def: "Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly] synonym: "BONE MARROW BIOPSY SHOWS ERYTHROID HYPERPLASIA" RELATED [HPO:skoehler] synonym: "BONE MARROW SMEAR SHOWS ERYTHROID HYPERPLASIA" RELATED [HPO:skoehler] is_a: HP:0012131 ! Abnormal number of erythroid precursors property_value: HP:0040005 "Increased count of erythroid precursor cells, that is, `erythroid lineage cells` (CL:0000764) in the bone marrow." xsd:string {xref="DDD:akelly"} created_by: peter creation_date: 2012-09-16T07:19:21Z [Term] id: HP:0012133 name: Erythroid hypoplasia def: "Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow." [DDD:akelly] synonym: "Erythroblastopenia" EXACT [] synonym: "ERYTHROID HYPOPLASIA IN THE BONE MARROW" RELATED [HPO:skoehler] is_a: HP:0012131 ! Abnormal number of erythroid precursors property_value: HP:0040005 "Decreased count of erythroid precursor cells, that is, `erythroid lineage cells` (CL:0000764) in the bone marrow." xsd:string {xref="DDD:akelly"} created_by: peter creation_date: 2012-09-16T07:21:19Z [Term] id: HP:0012134 name: Dysplastic erythropoesis is_a: HP:0001877 ! Abnormality of erythrocytes is_a: HP:0012130 ! Abnormality of cells of the erythroid lineage created_by: peter creation_date: 2012-09-16T08:01:11Z [Term] id: HP:0012135 name: Abnormality of cells of the granulocytic lineage def: "An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell." [DDD:akelly] is_a: HP:0005561 ! Abnormality of bone marrow cell morphology property_value: HP:0040005 "An anomaly of cells involved in the formation of a granulocytes, that is, of the `granulocytopoietic cell` (CL:0002191)." xsd:string {xref="DDD:akelly"} created_by: peter creation_date: 2012-09-16T08:02:11Z [Term] id: HP:0012136 name: Dysplastic granulopoesis is_a: HP:0012135 ! Abnormality of cells of the granulocytic lineage created_by: peter creation_date: 2012-09-16T08:05:13Z [Term] id: HP:0012137 name: Abnormal number of granulocyte precursors is_a: HP:0012135 ! Abnormality of cells of the granulocytic lineage created_by: peter creation_date: 2012-09-16T08:09:13Z [Term] id: HP:0012138 name: Granulocytic hyperplasia is_a: HP:0012137 ! Abnormal number of granulocyte precursors created_by: peter creation_date: 2012-09-16T08:09:36Z [Term] id: HP:0012139 name: Granulocytic hypoplasia def: "Decreased number of granulocyte precursors in the bone marrow." [HPO:akelly] is_a: HP:0012137 ! Abnormal number of granulocyte precursors created_by: peter creation_date: 2012-09-16T08:09:56Z [Term] id: HP:0012140 name: Abnormality of cells of the lymphoid lineage def: "An anomaly of cells that originate from the lymphoid lineage restricted progenitor cell." [HPO:probinson] is_a: HP:0005561 ! Abnormality of bone marrow cell morphology property_value: HP:0040005 "An anomaly of cells that originate from the `lymphoid lineage restricted progenitor cell` (CL:0000838)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-09-16T08:13:39Z [Term] id: HP:0012142 name: Pancreatic squamous cell carcinoma def: "A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium." [HPO:probinson, pmid:19079631] synonym: "Squamous cell carcinoma of the pancreas" EXACT [] is_a: HP:0002894 ! Neoplasm of the pancreas created_by: peter creation_date: 2012-09-16T08:55:24Z [Term] id: HP:0012143 name: Abnormality of cells of the megakaryocyte lineage def: "Anomaly of megakaryocytes." [HPO:probinson] is_a: HP:0005561 ! Abnormality of bone marrow cell morphology property_value: HP:0040005 "Anomaly of `megakaryocytes` (CL:0000556)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-09-16T08:20:38Z [Term] id: HP:0012144 name: Abnormality of cells of the monocyte/macrophage lineage is_a: HP:0005561 ! Abnormality of bone marrow cell morphology created_by: peter creation_date: 2012-09-16T08:21:37Z [Term] id: HP:0012145 name: Abnormality of multiple cell lineages in the bone marrow is_a: HP:0005561 ! Abnormality of bone marrow cell morphology created_by: peter creation_date: 2012-09-16T08:21:57Z [Term] id: HP:0012146 name: Abnormality of von Willebrand factor def: "Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." [DDD:akelly] is_a: HP:0003256 ! Abnormality of the coagulation cascade property_value: HP:0040005 "Decreased quantity or activity of `von Willebrand factor` (PR:000017364). Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces." xsd:string {xref="DDD:akelly"} created_by: peter creation_date: 2012-09-16T08:25:58Z [Term] id: HP:0012147 name: Reduced quantity of Von Willebrand factor def: "Decreased quantity of von Willebrand factor." [DDD:akelly] synonym: "Decreased von Willebrand factor" RELATED [] is_a: HP:0012146 ! Abnormality of von Willebrand factor property_value: HP:0040005 "Decreased quantity of `von Willebrand factor` (PR:000017364)." xsd:string {xref="DDD:akelly"} created_by: peter creation_date: 2012-09-16T08:27:00Z [Term] id: HP:0012148 name: Multiple lineage myelodysplasia def: "Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly] is_a: HP:0002863 ! Myelodysplasia created_by: peter creation_date: 2012-09-16T08:33:33Z [Term] id: HP:0012149 name: Bilineage myelodysplasia def: "Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic." [DDD:akelly] is_a: HP:0002863 ! Myelodysplasia created_by: peter creation_date: 2012-09-16T08:39:10Z [Term] id: HP:0012150 name: Single lineage myelodysplasia def: "Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic)." [DDD:akelly] is_a: HP:0002863 ! Myelodysplasia created_by: peter creation_date: 2012-09-16T08:39:39Z [Term] id: HP:0012151 name: Hemothorax def: "The presence of blood in the pleural space." [HPO:probinson] comment: Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels. xref: MeSH:D006491 "Hemothorax" is_a: HP:0002103 ! Abnormality of the pleura created_by: peter creation_date: 2012-09-16T08:58:32Z [Term] id: HP:0012152 name: Foveoschisis def: "Splitting of the retinal layers in the macula." [HPO:probinson] is_a: HP:0000493 ! Abnormality of the fovea created_by: peter creation_date: 2012-09-16T09:06:26Z [Term] id: HP:0012153 name: Hypotriglyceridemia def: "An decrease in the level of triglycerides in the blood." [HPO:probinson] is_a: HP:0045014 ! Hypolipidemia property_value: HP:0040005 "An decrease in the level of `triglycerides` (CHEBI:17855) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2012-09-20T06:39:11Z [Term] id: HP:0012154 name: Anhedonia def: "Inability to experience pleasure activities usually found enjoyable." [HPO:probinson] xref: MeSH:D059445 "Anhedonia" is_a: HP:0100851 ! Abnormal emotion/affect behavior created_by: peter creation_date: 2012-09-20T06:51:36Z [Term] id: HP:0012155 name: Decreased corneal sensation def: "Reduced ability of the cornea to respond to stimulation." [HPO:probinson] comment: Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma. synonym: "Corneal hypaesthesia" EXACT [] synonym: "Corneal hypesthesia" EXACT [] synonym: "Decreased corneal sensitivity" RELATED [] synonym: "Reduced corneal sensation" EXACT [] is_a: HP:0000481 ! Abnormality of the cornea created_by: hecht creation_date: 2013-01-04T08:36:10Z [Term] id: HP:0012156 name: Hemophagocytosis def: "Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues." [HPO:probinson] comment: Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process). is_a: HP:0004311 ! Abnormality of macrophages created_by: peter creation_date: 2013-01-07T10:11:21Z [Term] id: HP:0012157 name: Subcortical cerebral atrophy def: "Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter." [HPO:probinson, pmid:20813998] is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum created_by: peter creation_date: 2013-01-20T11:22:50Z [Term] id: HP:0012158 name: Carotid artery dissection def: "A separation (dissection) of the layers of the carotid artery wall." [HPO:probinson] is_a: HP:0005344 ! Abnormality of the carotid arteries created_by: peter creation_date: 2013-02-16T07:19:57Z [Term] id: HP:0012159 name: Internal carotid artery dissection def: "A separation (dissection) of the layers of the internal carotid artery wall." [HPO:probinson] comment: The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation. xref: MeSH:D020215 "Carotid Artery, Internal, Dissection" is_a: HP:0012158 ! Carotid artery dissection property_value: HP:0040005 "A separation (dissection) of the layers of the `internal carotid artery` (FMA:3947) wall." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-02-16T07:22:28Z [Term] id: HP:0012160 name: Intracranial internal carotid artery dissection def: "A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall." [HPO:probinson] is_a: HP:0012159 ! Internal carotid artery dissection property_value: HP:0040005 "A separation (dissection) of the layers of the intracranial portion of the `internal carotid artery` (FMA:3947) wall." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-02-16T07:31:51Z [Term] id: HP:0012161 name: External carotid artery dissection def: "A separation (dissection) of the layers of the external carotid artery wall." [HPO:probinson] is_a: HP:0012158 ! Carotid artery dissection property_value: HP:0040005 "A separation (dissection) of the layers of the `external carotid artery` (FMA:10635) wall." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-02-16T07:33:34Z [Term] id: HP:0012162 name: Common carotid artery dissection def: "A separation (dissection) of the layers of the common carotid artery wall." [HPO:probinson] is_a: HP:0012158 ! Carotid artery dissection property_value: HP:0040005 "A separation (dissection) of the layers of the `common carotid artery` (FMA:3939) wall." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-02-16T07:34:14Z [Term] id: HP:0012163 name: Carotid artery aneurysm def: "A aneurysm (balooning or bulging out of the vessel wall) of a carotid artery." [HPO:probinson] is_a: HP:0005344 ! Abnormality of the carotid arteries created_by: peter creation_date: 2013-02-16T10:18:06Z [Term] id: HP:0012164 name: Asterixis def: "A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints." [HPO:probinson] comment: The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture. is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2013-02-16T10:20:08Z [Term] id: HP:0012165 name: Oligodactyly def: "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson] is_a: HP:0011297 ! Abnormality of digit created_by: peter creation_date: 2013-02-16T10:44:40Z [Term] id: HP:0012166 name: Skin-picking def: "Repetitive and compulsive picking of skin which results in tissue damage." [HPO:probinson, pmid:20575652] synonym: "Compulsive skin picking" EXACT [] synonym: "Dermatillomania" EXACT [] xref: ICD-10:F63.3 "Trichotillomania" xref: MeSH:D014256 "Trichotillomania" is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T07:12:33Z [Term] id: HP:0012167 name: Hair-pulling def: "A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss." [HPO:probinson] synonym: "Trichotillomania" EXACT [] is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T07:16:10Z [Term] id: HP:0012168 name: Head-banging def: "Habitual striking of one's own head against a surface such as a mattress or wall of a crib." [HPO:probinson] is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T09:33:57Z [Term] id: HP:0012169 name: Self-biting def: "Habitual biting of one's own body." [HPO:probinson] comment: Biting of one's own arms, lip, check, finger etc. is_a: HP:0100716 ! Self-injurious behavior created_by: peter creation_date: 2013-02-20T09:36:42Z [Term] id: HP:0012170 name: Nail-biting def: "Habitual biting of one's own fingernails." [HPO:probinson] synonym: "Onychophagia" EXACT [] synonym: "Onychophagy" EXACT [] xref: ICD-10:F98.8 is_a: HP:0012169 ! Self-biting created_by: peter creation_date: 2013-02-20T09:40:31Z [Term] id: HP:0012171 name: Stereotypical hand wringing def: "Habitual clasping and squeeezing of the hands." [HPO:probinson] is_a: HP:0000733 ! Stereotypic behavior created_by: peter creation_date: 2013-02-20T09:44:45Z [Term] id: HP:0012172 name: Stereotypical body rocking def: "Habitual repetitive movement of the body." [HPO:probinson] is_a: HP:0000733 ! Stereotypic behavior created_by: peter creation_date: 2013-02-20T10:17:35Z [Term] id: HP:0012173 name: Orthostatic tachycardia def: "An increase in heart rate with standing of 30 beats per minute or more." [HPO:probinson, pmid:9244228] synonym: "Postural tachycardia" EXACT [] is_a: HP:0012332 ! Abnormal autonomic nervous system physiology created_by: peter creation_date: 2013-02-23T09:42:20Z [Term] id: HP:0012174 name: Glioblastoma multiforme def: "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, pmid:10841526] xref: MeSH:D005909 "Glioblastoma" is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2013-02-23T09:47:02Z [Term] id: HP:0012175 name: Resistance to activated protein C def: "Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay." [HPO:probinson, pmid:14976057] comment: The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay. synonym: "Activated protein C resistance" EXACT [] is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2013-02-23T09:54:07Z [Term] id: HP:0012176 name: Abnormality of natural killer cells def: "An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." [HPO:probinson, pmid:21212348] synonym: "Abnormal NK cells" EXACT [HPO:skoehler] is_a: HP:0004332 ! Abnormality of lymphocytes property_value: HP:0040005 "An anomaly of the `natural killer cell` (CL:0000623), which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells." xsd:string {xref="HPO:probinson", xref="pmid:21212348"} created_by: peter creation_date: 2013-02-23T10:02:16Z [Term] id: HP:0012177 name: Abnormal natural killer cell physiology def: "A functional anomaly of the natural killer cell." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology is_a: HP:0012176 ! Abnormality of natural killer cells property_value: HP:0040005 "A functional anomaly of the `natural killer cell` (CL:0000623)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-02-23T10:03:37Z [Term] id: HP:0012178 name: Reduced natural killer cell activity def: "Reduced ability of the natural killer cell to function in the adaptive immune response." [HPO:probinson] is_a: HP:0012177 ! Abnormal natural killer cell physiology property_value: HP:0040005 "Reduced ability of the `natural killer cell` (CL:0000623) to function in the adaptive immune response." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-02-23T10:05:33Z [Term] id: HP:0012179 name: Craniofacial dystonia def: "A form of focal dystonia affecting the face, head or neck muscles." [HPO:probinson] is_a: HP:0004373 ! Focal dystonia created_by: peter creation_date: 2013-02-23T10:10:32Z [Term] id: HP:0012180 name: Cystic medial necrosis alt_id: HP:0200145 def: "A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells." [HPO:probinson] comment: The lesions of cystic medial necrosis are not true cysts. synonym: "Arterial cystic medial necrosis" EXACT [] is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2013-02-23T10:17:16Z [Term] id: HP:0012181 name: Entrapment neuropathy def: "Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss." [HPO:probinson] comment: An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical contriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band. xref: MeSH:D009408 "Nerve Compression Syndromes" is_a: HP:0009830 ! Peripheral neuropathy created_by: peter creation_date: 2013-02-23T10:20:59Z [Term] id: HP:0012182 name: Oropharyngeal squamous cell carcinoma def: "A squamous cell carcinoma that originates in the oropharnyx." [HPO:probinson] is_a: HP:0002860 ! Squamous cell carcinoma created_by: peter creation_date: 2013-02-23T10:28:31Z [Term] id: HP:0012183 name: Hyperplastic colonic polyposis def: "Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation." [HPO:probinson] is_a: HP:0030255 ! Large intestinal polyposis created_by: peter creation_date: 2013-02-24T09:08:55Z [Term] id: HP:0012184 name: Hyperalphalipoproteinemia def: "An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood." [HPO:probinson] comment: The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II. is_a: HP:0010980 ! Hyperlipoproteinemia property_value: HP:0040005 "An elevated concentration of `high-density lipoprotein cholesterol` (CHEBI:47775) (HDL) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-02-24T09:14:45Z [Term] id: HP:0012185 name: Constrictive median neuropathy def: "Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand." [HPO:probinson] comment: Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome. is_a: HP:0012181 ! Entrapment neuropathy created_by: peter creation_date: 2013-02-24T09:24:32Z [Term] id: HP:0012186 name: Entrapment neuropathy of the ulnar nerve at elbow def: "An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand." [HPO:probinson] is_a: HP:0012181 ! Entrapment neuropathy created_by: peter creation_date: 2013-02-24T09:27:57Z [Term] id: HP:0012187 name: Increased erythrocyte protoporphyrin concentration def: "An increased concentration of protoporphyrins in erythrocytes." [HPO:probinson, pmid:18760763] is_a: HP:0010472 ! Abnormality of the heme biosynthetic pathway property_value: HP:0040005 "An increased concentration of `protoporphyrins` (CHEBI:26361) in erythrocytes." xsd:string {xref="HPO:probinson", xref="pmid:18760763"} created_by: peter creation_date: 2013-02-24T09:49:59Z [Term] id: HP:0012188 name: Hyperemesis gravidarum def: "Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight." [HPO:probinson, OMIM:603373] is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2013-02-24T09:58:18Z [Term] id: HP:0012189 name: Hodgkin lymphoma def: "A typer of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells." [HPO:probinson] synonym: "Hodgkin disease" EXACT [] synonym: "Hodgkin's lymphoma" EXACT [] xref: MeSH:D006689 "Hodgkin Disease" is_a: HP:0002665 ! Lymphoma created_by: peter creation_date: 2013-02-27T06:53:11Z [Term] id: HP:0012190 name: T-cell lymphoma def: "A type of lymphoma that originates in T-cells." [HPO:probinson] synonym: "T cell lymphoma" EXACT [] xref: MeSH:D016399 "Lymphoma, T-Cell" is_a: HP:0012539 ! Non-Hodgkin lymphoma created_by: peter creation_date: 2013-02-27T06:56:11Z [Term] id: HP:0012191 name: B-cell lymphoma def: "A type of lymphoma that originates in B-cells." [HPO:probinson] synonym: "B cell lymphoma" EXACT [] xref: MeSH:D016393 "Lymphoma, B-Cell" is_a: HP:0012539 ! Non-Hodgkin lymphoma created_by: peter creation_date: 2013-02-27T06:59:05Z [Term] id: HP:0012192 name: Cutaneous T-cell lymphoma def: "A type of T-cell lymphoma that exhibits malignant infiltration of the skin." [HPO:probinson] xref: MeSH:D016410 "Lymphoma, T-Cell, Cutaneous" is_a: HP:0012190 ! T-cell lymphoma created_by: peter creation_date: 2013-02-27T07:03:19Z [Term] id: HP:0012193 name: Anaplastic large-cell lymphoma def: "A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei. These so-called hallmark cells have lobulated and indented nuclei." [HPO:probinson] xref: MeSH:D017728 "Lymphoma, Large-Cell, Anaplastic" is_a: HP:0012190 ! T-cell lymphoma created_by: peter creation_date: 2013-02-27T07:15:32Z [Term] id: HP:0012194 name: Episodic hemiplegia def: "Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body." [HPO:probinson] is_a: HP:0002301 ! Hemiplegia created_by: peter creation_date: 2013-02-27T07:26:26Z [Term] id: HP:0012195 name: Irregular respiration def: "Uneven rhythm of breathing." [HPO:probinson] is_a: HP:0002793 ! Abnormal pattern of respiration created_by: peter creation_date: 2013-03-11T05:10:57Z [Term] id: HP:0012196 name: Cheyne-Stokes respiration def: "An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes." [HPO:probinson] synonym: "Periodic respiration" EXACT [] xref: MeSH:D002639 "Cheyne-Stokes Respiration" is_a: HP:0002793 ! Abnormal pattern of respiration created_by: peter creation_date: 2013-03-11T07:00:56Z [Term] id: HP:0012197 name: Insulinoma def: "A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia." [HPO:probinson] xref: MeSH:D007340 "Insulinoma" is_a: HP:0008261 ! Pancreatic islet cell adenoma created_by: peter creation_date: 2013-03-11T07:06:29Z [Term] id: HP:0012198 name: Juvenile colonic polyposis def: "The presence of more than 5 juvenile polyps of the colon." [HPO:probinson] comment: A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells. is_a: HP:0030255 ! Large intestinal polyposis created_by: peter creation_date: 2013-03-11T07:09:42Z [Term] id: HP:0012199 name: Cluster headache def: "A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs." [HPO:probinson, pmid:21912573] comment: According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D:\nB) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated.\nC) Headache is accompanied by at least 1 of the following:\n(i) Ipsilateral conjunctival injection and/or lacrimation.\n(ii) Ipsilateral nasal congestion and/or rhinorrhea.\n(iii) Ipsilateral eyelid edema.\n(iv) Ipsilateral forehead and facial sweating.\n(v) Ipsilateral miosis and/or ptosis.\n(vi) A sense of restlessness or agitation.\nD) Attacks have a frequency from 1 every other day to 8/day.\nAdditionally, the headaches cannot attributed to another disorder. xref: ICD10:G44.0 "Cluster headache syndrome" is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-03-12T11:37:40Z [Term] id: HP:0012200 name: Abnormality of prothrombin def: "An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade." [HPO:probinson] is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2013-03-12T11:48:06Z [Term] id: HP:0012201 name: Reduced prothrombin activity def: "Decreased activity of coagulation factor II, which is also known as prothrombin." [HPO:probinson] synonym: "Reduced factor II activity" EXACT [] is_a: HP:0012200 ! Abnormality of prothrombin created_by: peter creation_date: 2013-03-12T11:50:24Z [Term] id: HP:0012202 name: Increased serum bile acid concentration def: "An increase in the concentration of bile acid in the blood." [HPO:probinson] is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism property_value: HP:0040005 "An increase in the concentration of `bile acid` (CHEBI:3098) in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-03-12T11:56:40Z [Term] id: HP:0012203 name: Onychomycosis def: "A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split." [HPO:probinson] is_a: HP:0002841 ! Recurrent fungal infections created_by: peter creation_date: 2013-03-12T12:08:30Z [Term] id: HP:0012204 name: Recurrent vulvovaginal candidiasis def: "Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida." [HPO:probinson] is_a: HP:0002728 ! Chronic mucocutaneous candidiasis created_by: peter creation_date: 2013-03-12T12:09:45Z [Term] id: HP:0012205 name: Globozoospermia def: "Any structural anomaly of the acrosome resulting in a round sperm head." [HPO:probinson, MP:0002686] is_a: HP:0012865 ! Sperm head anomaly created_by: peter creation_date: 2013-03-12T12:21:08Z [Term] id: HP:0012206 name: Abnormal sperm motility def: "An anomaly of the mobility of ejaculated sperm." [HPO:probinson] is_a: HP:0000025 ! Functional abnormality of male internal genitalia created_by: peter creation_date: 2013-03-12T12:23:21Z [Term] id: HP:0012207 name: Reduced sperm motility def: "An abnormal reduction in the mobility of ejaculated sperm." [HPO:probinson] is_a: HP:0012206 ! Abnormal sperm motility created_by: peter creation_date: 2013-03-12T12:23:59Z [Term] id: HP:0012208 name: Nonmotile sperm def: "A lack of mobility of ejaculated sperm." [HPO:probinson] is_a: HP:0012206 ! Abnormal sperm motility created_by: peter creation_date: 2013-03-12T12:24:28Z [Term] id: HP:0012209 name: Juvenile myelomonocytic leukemia def: "Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor." [HPO:probinson, pmid:18954903] xref: MeSH:D054429 "Leukemia, Myelomonocytic, Juvenile" is_a: HP:0012324 ! Myeloid leukemia created_by: peter creation_date: 2013-03-12T12:27:41Z [Term] id: HP:0012210 name: Abnormal renal morphology alt_id: HP:0000792 alt_id: HP:0004726 alt_id: HP:0004735 alt_id: HP:0008712 def: "Any structural anomaly of the kidney." [HPO:probinson] synonym: "Kidney malformation" EXACT [] synonym: "Renal malformation" EXACT [] synonym: "Structural anomalies of the renal tract" EXACT [] synonym: "Structural kidney abnormalities" EXACT [] synonym: "Structural renal anomalies" EXACT [] xref: UMLS:C0266292 "Kidney malformation" is_a: HP:0000077 ! Abnormality of the kidney property_value: HP:0040005 "Any structural anomaly of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-03-14T07:41:11Z [Term] id: HP:0012211 name: Abnormal renal physiology alt_id: HP:0000082 alt_id: HP:0000087 alt_id: HP:0005566 alt_id: HP:0008646 def: "An abnormal functionality of the kidney." [HPO:probinson] synonym: "ABNORMAL RENAL FUNCTION" EXACT [HPO:skoehler] synonym: "Abnormality of renal physiology" EXACT [] synonym: "Renal functional abnormality" EXACT [] xref: UMLS:C1848822 "Renal dysfunction" is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0011277 ! Abnormality of the urinary system physiology property_value: HP:0040005 "An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-03-14T07:43:34Z [Term] id: HP:0012212 name: Abnormal glomerular filtration rate def: "An anomaly in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson, MP:0002847] is_a: HP:0012211 ! Abnormal renal physiology created_by: peter creation_date: 2013-03-14T07:49:53Z [Term] id: HP:0012213 name: Decreased glomerular filtration rate alt_id: HP:0000120 def: "An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson] comment: Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream. synonym: "Impaired renal creatinine clearance" EXACT [] synonym: "Reduced creatinine clearance" EXACT [] xref: UMLS:C1856356 "Reduced creatinine clearance" is_a: HP:0012212 ! Abnormal glomerular filtration rate created_by: peter creation_date: 2013-03-14T07:54:30Z [Term] id: HP:0012214 name: Increased glomerular filtration rate def: "An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time." [HP:probinson] is_a: HP:0012212 ! Abnormal glomerular filtration rate created_by: peter creation_date: 2013-03-14T07:55:03Z [Term] id: HP:0012215 name: Testicular microlithiasis def: "The deposition of calcium phosphate microliths within the seminiferous tubules." [HPO:probinson] is_a: HP:0000035 ! Abnormality of the testis created_by: peter creation_date: 2013-03-14T08:07:36Z [Term] id: HP:0012216 name: Entrapment neuropathy of suprascapular nerve def: "An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region." [HPO:probinson] synonym: "Suprascapular nerve entrapment" EXACT [] is_a: HP:0012181 ! Entrapment neuropathy created_by: peter creation_date: 2013-03-14T08:09:05Z [Term] id: HP:0012217 name: Increased urinary porphobilinogen def: "Increased concentration of porphobilinogen in the urine." [HPO:probinson, pmid:11861450] comment: Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis. is_a: HP:0010472 ! Abnormality of the heme biosynthetic pathway property_value: HP:0040005 "Increased concentration of `porphobilinogen` (CHEBI:17381) in the urine." xsd:string {xref="HPO:probinson", xref="pmid:11861450"} created_by: peter creation_date: 2013-03-30T06:45:01Z [Term] id: HP:0012218 name: Alveolar soft part sarcoma def: "A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue." [HPO:probinson, pmid:11244503] xref: MeSH:D018234 "Sarcoma, Alveolar Soft Part" is_a: HP:0100242 ! Sarcoma created_by: peter creation_date: 2013-03-30T06:48:50Z [Term] id: HP:0012219 name: Erythema nodosum def: "An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral." [HPO:probinson] comment: The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. xref: MeSH:D004893 "Erythema Nodosum" is_a: HP:0011123 ! Inflammatory abnormality of the skin created_by: peter creation_date: 2013-03-30T06:57:07Z [Term] id: HP:0012220 name: Non-caseating epithelioid cell granulomatosis def: "The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese)." [HPO:probinson] comment: This feature is a hallmark of sarcoidosis. is_a: HP:0002955 ! Granulomatosis created_by: peter creation_date: 2013-03-30T07:04:43Z [Term] id: HP:0012221 name: Pretibial blistering def: "A type of blistering that affects the skin of the tibial region." [HPO:probinson, pmid:15265795] synonym: "Pretibial epidermolysis bullosa" EXACT [] is_a: HP:0011356 ! Regional abnormality of skin created_by: peter creation_date: 2013-03-30T07:10:17Z [Term] id: HP:0012222 name: Arachnoid hemangiomatosis def: "The presence of multiple hemangiomas in the arachnoid." [HPO:probinson] is_a: HP:0001028 ! Hemangioma created_by: peter creation_date: 2013-03-30T07:17:01Z [Term] id: HP:0012223 name: Splenic rupture def: "A breach of the capsule of the spleen." [HPO:probinson] synonym: "Ruptured spleen" EXACT [] xref: MeSH:D013161 "Splenic Rupture" is_a: HP:0001743 ! Abnormality of the spleen created_by: peter creation_date: 2013-03-30T07:23:49Z [Term] id: HP:0012224 name: Circulating immune complexes def: "Persistence of immune complexes in the blood circulation." [HPO:probinson] comment: Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions. is_a: HP:0005368 ! Abnormality of humoral immunity created_by: peter creation_date: 2013-03-30T07:27:21Z [Term] id: HP:0012225 name: Oligodontia of primary teeth def: "Reduced number of primary teeth." [HPO:probinson] comment: Primary teeth are also called temporary teeth or deciduous teeth. is_a: HP:0000677 ! Oligodontia created_by: peter creation_date: 2013-03-30T07:31:16Z [Term] id: HP:0012226 name: Ovarian teratoma def: "The presence of a teratoma in the ovary." [HPO:probinson] is_a: HP:0009792 ! Teratoma property_value: HP:0040005 "The presence of a `teratoma` (MPATH:322) in the ovary." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-03-30T07:34:29Z [Term] id: HP:0012227 name: Urethral stricture def: "Narrowing of the urethra associated with inflammation or scar tissue." [HPO:probinson] comment: A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661). is_a: HP:0008661 ! Urethral stenosis created_by: peter creation_date: 2013-03-30T07:37:46Z [Term] id: HP:0012228 name: Tension-type headache def: "A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs." [HPO:probinson] xref: ICD10:G44.2 "Tension-type headache" is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-03-30T07:50:13Z [Term] id: HP:0012229 name: CSF pleocytosis def: "An increased white blood cell count in the cerebrospinal fluid." [HPO:probinson] synonym: "Cerebrospinal fluid pleocytosis" EXACT [] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: peter creation_date: 2013-03-31T09:01:55Z [Term] id: HP:0012230 name: Rhegmatogenous retinal detachment def: "A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium." [HPO:probinson] is_a: HP:0000541 ! Retinal detachment created_by: peter creation_date: 2013-03-31T09:20:35Z [Term] id: HP:0012231 name: Exudative retinal detachment def: "A type of retinal detachment associated with leakage of fluid (exudate) from under the retina." [HPO:probinson] is_a: HP:0000541 ! Retinal detachment created_by: peter creation_date: 2013-03-31T09:24:20Z [Term] id: HP:0012232 name: Shortened QT interval def: "Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] is_a: HP:0003115 ! Abnormal EKG created_by: peter creation_date: 2013-03-31T09:34:21Z [Term] id: HP:0012233 name: Intramuscular hematoma def: "Blood clot formed within muscle tissue following leakage of blood into the tissue." [HPO:probinson] synonym: "Intramuscular haematoma" EXACT [] synonym: "INTRAMUSCULAR HEMATOMAS" RELATED [HPO:skoehler] synonym: "Intramuscular hemorrhage" EXACT [] xref: UMLS:C0473767 "Intramuscular hematoma" is_a: HP:0011805 ! Abnormality of muscle morphology created_by: peter creation_date: 2013-03-31T09:38:57Z [Term] id: HP:0012234 name: Agranulocytosis def: "Marked decrease in the number of granulocytes." [HPO:probinson] comment: Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. is_a: HP:0001913 ! Granulocytopenia property_value: HP:0040005 "Marked decrease in the number of `granulocytes` (CL:0000094)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-03-31T09:42:50Z [Term] id: HP:0012235 name: Drug-induced agranulocytosis def: "A type of agranulocytosis related to ingestion of a specific medication." [HPO:probinson] is_a: HP:0012234 ! Agranulocytosis created_by: peter creation_date: 2013-03-31T09:44:55Z [Term] id: HP:0012236 name: Elevated sweat chloride def: "An increased concentration of chloride in the sweat." [HPO:probinson] comment: Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases. is_a: HP:0011422 ! Abnormality of chloride homeostasis is_a: HP:0040127 ! Abnormal sweat homeostasis created_by: peter creation_date: 2013-03-31T09:50:28Z [Term] id: HP:0012237 name: Urocanic aciduria def: "An increased concentration of urocanic acid in the urine." [HPO:probinson] is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism property_value: HP:0040005 "An increased concentration of `urocanic acid` (CHEBI:27248) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-03-31T09:54:48Z [Term] id: HP:0012238 name: Hyperchylomicronemia def: "Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins." [HPO:probinson, MP:0009699] synonym: "Increased chylomicrons" EXACT [] is_a: HP:0010980 ! Hyperlipoproteinemia created_by: peter creation_date: 2013-03-31T04:17:11Z [Term] id: HP:0012239 name: Atransferrinemia def: "Absence of transferrin, a protein that transprot iron, in the blood." [HPO:probinson] is_a: HP:0010876 ! Abnormality of circulating protein level created_by: peter creation_date: 2013-03-31T04:20:43Z [Term] id: HP:0012240 name: Increased intramyocellular lipid droplets def: "An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images." [HPO:probinson, pmid:20691590] comment: In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres. synonym: "Increased muscle lipid droplets" RELATED [] is_a: HP:0009058 ! Increased muscle lipid content created_by: peter creation_date: 2013-04-01T05:17:37Z [Term] id: HP:0012241 name: Levator palpebrae superioris atrophy def: "Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid." [HPO:probinson] is_a: HP:0008049 ! Abnormality of the extraocular muscles property_value: HP:0040005 "Atrophy of the `levator palpebrae superioris` (FMA:49041), the extraocular muscle that elevates the superior eyelid." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-02T06:53:20Z [Term] id: HP:0012242 name: Superior rectus atrophy def: "Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe." [HPO:probinson] synonym: "Rectus superior atrophy" EXACT [] is_a: HP:0008049 ! Abnormality of the extraocular muscles property_value: HP:0040005 "Atrophy of the `superior rectus` (FMA:49035), the extraocular muscle whose primary function is to elevate the globe." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-02T06:55:22Z [Term] id: HP:0012243 name: Abnormal genital system morphology def: "A structural or developmental anomaly of any of the tissues involved in the genital system." [HPO:probinson, MP:0002160] synonym: "Abnormal reproductive system morphology" EXACT [] is_a: HP:0000078 ! Abnormality of the genital system created_by: peter creation_date: 2013-04-02T07:02:20Z [Term] id: HP:0012244 name: Abnormal sex determination def: "Anomaly of primary or secondary sexual development or characteristics." [HPO:probinson, MP:0002210] is_a: HP:0012243 ! Abnormal genital system morphology created_by: peter creation_date: 2013-04-02T07:03:45Z [Term] id: HP:0012245 name: Sex reversal def: "Development of the reproductive system is inconsistent with the chromosomal sex." [HPO:probinson, MP:0005652] comment: Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female. is_a: HP:0012244 ! Abnormal sex determination created_by: peter creation_date: 2013-04-02T07:04:44Z [Term] id: HP:0012246 name: Oculomotor nerve palsy def: "Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve)." [HPO:probinson] synonym: "Oculomotor neuropathy" RELATED [] is_a: HP:0000597 ! Ophthalmoparesis is_a: HP:0001291 ! Abnormality of the cranial nerves created_by: peter creation_date: 2013-04-02T07:15:18Z [Term] id: HP:0012247 name: Specific anosmia def: "Anosmia for one particular odor." [HPO:probinson] is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2013-04-02T07:20:11Z [Term] id: HP:0012248 name: Prolonged PR interval def: "Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex)." [HPO:probinson] comment: In adults, normal values are 120 to 200 ms long. synonym: "Electrocardiographic long PR interval" EXACT [] synonym: "Lengthened PR interval on EKG" EXACT [] is_a: HP:0003115 ! Abnormal EKG created_by: peter creation_date: 2013-04-07T08:52:29Z [Term] id: HP:0012249 name: Abnormal ST segment def: "An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment." [HPO:probinson] is_a: HP:0003115 ! Abnormal EKG created_by: peter creation_date: 2013-04-07T08:56:46Z [Term] id: HP:0012250 name: ST segment depression def: "An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line." [HPO:probinson] is_a: HP:0012249 ! Abnormal ST segment created_by: peter creation_date: 2013-04-07T08:59:59Z [Term] id: HP:0012251 name: ST segment elevation def: "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson] comment: ST segment elevant may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia. is_a: HP:0012249 ! Abnormal ST segment created_by: peter creation_date: 2013-04-07T09:03:06Z [Term] id: HP:0012252 name: Abnormal respiratory system morphology def: "A structural anomaly of the respiratoy system." [HPO:probinson] is_a: HP:0002086 ! Abnormality of the respiratory system created_by: peter creation_date: 2013-04-07T09:11:09Z [Term] id: HP:0012253 name: Abnormal respiratory epithelium morphology def: "Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi." [HPO:probinson, MP:0010942] is_a: HP:0012252 ! Abnormal respiratory system morphology created_by: peter creation_date: 2013-04-07T09:12:48Z [Term] id: HP:0012254 name: Ewing's sarcoma def: "A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones." [HPO:probinson, pmid:17272319] comment: Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low. synonym: "Ewing sarcoma" EXACT [] xref: MeSH:D012512 "Sarcoma, Ewing" is_a: HP:0100242 ! Sarcoma created_by: peter creation_date: 2013-04-07T01:54:14Z [Term] id: HP:0012255 name: Dynein arm defect of respiratory motile cilia def: "An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] comment: The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another. is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T09:20:03Z [Term] id: HP:0012256 name: Absent outer dynein arms def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] is_a: HP:0200106 ! Absent/shortened dynein arms created_by: peter creation_date: 2013-04-07T09:35:55Z [Term] id: HP:0012257 name: Absent inner dynein arms def: "Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] is_a: HP:0200106 ! Absent/shortened dynein arms created_by: peter creation_date: 2013-04-07T09:38:46Z [Term] id: HP:0012258 name: Abnormal axonemal organization of respiratory motile cilia def: "Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms." [HPO:probinson, pmid:19606528] comment: Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet. is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T09:49:56Z [Term] id: HP:0012259 name: Absent inner and outer dynein arms def: "Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy." [HPO:probinson, pmid:19606528] is_a: HP:0012256 ! Absent outer dynein arms is_a: HP:0012257 ! Absent inner dynein arms created_by: peter creation_date: 2013-04-07T09:40:14Z [Term] id: HP:0012260 name: Abnormal central microtubular pair morphology of respiratory motile cilia def: "A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson, pmid:19200523] comment: In the Foundational Model of Anatomy, the central microtubular pair is referred to as the central part of axoneme of cilium (FMA:62264). is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T09:58:27Z [Term] id: HP:0012261 name: Abnormal respiratory motile cilium physiology def: "Any functional anomaly of the respiratory motile cilia." [HPO:probinson, MP:0011055] comment: Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency. is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2013-04-07T10:05:43Z [Term] id: HP:0012262 name: Abnormal ciliary motility def: "Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions." [HPO:probinson, pmid:19606528, pmid:20301301] comment: Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke. is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology created_by: peter creation_date: 2013-04-07T10:10:35Z [Term] id: HP:0012263 name: Immotile cilia is_a: HP:0012262 ! Abnormal ciliary motility created_by: peter creation_date: 2013-04-07T10:11:17Z [Term] id: HP:0012264 name: Absent central microtubular pair morphology of respiratory motile cilia def: "Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration." [HPO:probinson] is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T10:12:06Z [Term] id: HP:0012265 name: Ciliary dyskinesia def: "A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia." [HPO:probinson, pmid:19606528] comment: Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency. is_a: HP:0012262 ! Abnormal ciliary motility created_by: peter creation_date: 2013-04-07T10:14:07Z [Term] id: HP:0012266 name: T-wave alternans def: "A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG." [HPO:probinson, pmid:17592081] is_a: HP:0005135 ! EKG: T-wave abnormalities created_by: peter creation_date: 2013-04-07T10:23:08Z [Term] id: HP:0012267 name: Absent respiratory ciliary axoneme radial spokes def: "Absence of the radial spokes of the axoneme of the respiratoy cilium." [HPO:probinson, pmid:19606528] is_a: HP:0005938 ! Abnormal respiratory motile cilium morphology created_by: peter creation_date: 2013-04-07T01:56:53Z [Term] id: HP:0012268 name: Myxoid liposarcoma def: "A liposarcoma that contains myxomatous tissue." [HPO:probinson] xref: MeSH:D018208 "Liposarcoma, Myxoid" is_a: HP:0012034 ! Liposarcoma created_by: peter creation_date: 2013-04-07T01:59:19Z [Term] id: HP:0012269 name: Abnormal muscle glycogen content def: "Any anomaly in the amount of glycogen in muscle tissue." [HPO:probinson] comment: Glycogen functions as a secondary short term energy storage in muscle. is_a: HP:0004303 ! Abnormality of muscle fibers created_by: peter creation_date: 2013-04-07T02:04:03Z [Term] id: HP:0012270 name: Decreased muscle glycogen content def: "A decreased amount of glycogen in muscle tissue." [HPO:probinson] is_a: HP:0012269 ! Abnormal muscle glycogen content created_by: peter creation_date: 2013-04-07T02:05:15Z [Term] id: HP:0012271 name: Episodic upper airway obstruction def: "Intermittent episodes of increased resistance to the passage of air in the upper airway." [HPO:probinson] is_a: HP:0002781 ! Upper airway obstruction created_by: peter creation_date: 2013-04-07T02:08:33Z [Term] id: HP:0012272 name: J wave def: "The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point." [HPO:probinson, pmid:19561994] comment: J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome. synonym: "EKG J waves" EXACT [] synonym: "Osborne waves" EXACT [] is_a: HP:0003115 ! Abnormal EKG created_by: peter creation_date: 2013-04-07T02:11:05Z [Term] id: HP:0012273 name: Increased carotid artery intimal medial thickness def: "An increase in the combined thickness of the intima and media of the carotid artery." [HPO:probinson, pmid:9878640] comment: This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke. is_a: HP:0005344 ! Abnormality of the carotid arteries created_by: peter creation_date: 2013-04-07T02:16:23Z [Term] id: HP:0012274 name: Autosomal dominant inheritance with paternal imprinting def: "A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing." [HPO:probinson, pmid:18678320] comment: Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance. is_a: HP:0000006 ! Autosomal dominant inheritance created_by: peter creation_date: 2013-04-07T02:19:07Z [Term] id: HP:0012275 name: Autosomal dominant inheritance with maternal imprinting def: "A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing." [HPO:probinson] comment: Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance. is_a: HP:0000006 ! Autosomal dominant inheritance created_by: peter creation_date: 2013-04-07T02:54:09Z [Term] id: HP:0012276 name: Digital flexor tenosynovitis def: "Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit." [HPO:probinson] is_a: HP:0100261 ! Abnormal tendon morphology created_by: peter creation_date: 2013-04-07T03:02:33Z [Term] id: HP:0012277 name: Hypoglycinemia def: "An abnormally reduced concentration of glycine in the blood." [HPO:probinson] is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010895 ! Abnormality of glycine metabolism property_value: HP:0040005 "An abnormally reduced concentration of `glycine` (CHEBI:15428) in the `blood` (FMA:9670)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-07T03:54:41Z [Term] id: HP:0012278 name: Abnormality of serine metabolism def: "An abnormality of a serine metabolism." [HPO:probinson] is_a: HP:0010894 ! Abnormality of serine family amino acid metabolism property_value: HP:0040005 "An abnormality of a `serine` (CHEBI:17822) metabolism." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-07T03:57:10Z [Term] id: HP:0012279 name: Hyposerinemia def: "Reduced concentration of serine in the blood." [HPO:probinson] is_a: HP:0012278 ! Abnormality of serine metabolism property_value: HP:0040005 "Reduced concentration of `serine` (CHEBI:17822) in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-07T03:57:25Z [Term] id: HP:0012280 name: Hepatic amyloidosis def: "A form of amyloidosis that affects the liver." [HPO:probinson] is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0011034 ! Amyloidosis property_value: HP:0040005 "A form of `amyloidosis` (HP:0011034) that affects the liver." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-07T03:59:46Z [Term] id: HP:0012281 name: Chylous ascites def: "Extravasation of chyle into the peritoneal cavity." [HPO:probinson] synonym: "Chyloperitoneum" EXACT [] xref: MeSH:D002915 "Chylous Ascites" is_a: HP:0001541 ! Ascites created_by: peter creation_date: 2013-04-07T04:08:42Z [Term] id: HP:0012282 name: Morbilliform rash def: "An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days." [HPO:probinson] comment: A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas. is_a: HP:0000988 ! Skin rash created_by: peter creation_date: 2013-04-07T10:11:58Z [Term] id: HP:0012283 name: Small distal femoral epiphysis def: "Reduced size of the Distal epiphysis of femur." [HPO:probinson] is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis property_value: HP:0040005 "Reduced size of the `Distal epiphysis of femur` (FMA:32844)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-09T07:33:19Z [Term] id: HP:0012284 name: Small proximal tibial epiphyses def: "Reduced size of the proximal epiphysis of the tibia." [HPO:probinson] is_a: HP:0010585 ! Small epiphyses is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis created_by: peter creation_date: 2013-04-09T07:36:38Z [Term] id: HP:0012285 name: Abnormal hypothalamus physiology def: "An abnormal functionality of the hypothalamus." [HPO:probinson] comment: The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones. is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis is_a: HP:0010662 ! Abnormality of the diencephalon is_a: HP:0012638 ! Abnormality of nervous system physiology property_value: HP:0040005 "An abnormal `functionality` (PATO:0001509) of the `hypothalamus` (FMA:62008)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-09T07:51:07Z [Term] id: HP:0012286 name: Abnormal hypothalamus morphology alt_id: HP:0002443 def: "Any structural anomaly of the hypothalamus." [HPO:probinson] comment: MERGED COMMENT:\nTARGET COMMENT: The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones.\n--------------------\nSOURCE COMMENT: The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. synonym: "Abnormality of hypothalamus morphology" EXACT [] synonym: "Abnormality of the hypothalamus" EXACT [] is_a: HP:0010662 ! Abnormality of the diencephalon property_value: HP:0040005 "Any structural anomaly of the `hypothalamus` (FMA:62008)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-09T07:53:16Z [Term] id: HP:0012287 name: Hypothalamic luteinizing hormone-releasing hormone deficiency def: "Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus." [HPO:probinson] is_a: HP:0012285 ! Abnormal hypothalamus physiology created_by: peter creation_date: 2013-04-09T07:54:46Z [Term] id: HP:0012288 name: Neoplasm of head and neck def: "A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx." [HPO:probinson] synonym: "Head and neck cancer" RELATED [] xref: MeSH:D006258 "Head and Neck Neoplasms" is_a: HP:0011793 ! Neoplasm by anatomical site created_by: peter creation_date: 2013-04-11T05:44:24Z [Term] id: HP:0012289 name: Facial neoplasm def: "A tumor (abnormal growth of tissue) of the face." [HPO:probinson] xref: MeSH:D005153 "Facial Neoplasms" is_a: HP:0012288 ! Neoplasm of head and neck created_by: peter creation_date: 2013-04-11T05:46:35Z [Term] id: HP:0012290 name: Mouth neoplasm def: "A tumor (abnormal growth of tissue) of the mouth." [HPO:probinson] xref: MeSH:D009062 "Mouth Neoplasms" is_a: HP:0012288 ! Neoplasm of head and neck created_by: peter creation_date: 2013-04-11T05:48:12Z [Term] id: HP:0012291 name: obsolete Tracheal neoplasm def: "A neoplasm of the trachea." [HPO:probinson] xref: MeSH:D014134 "Tracheal Neoplasms" is_obsolete: true replaced_by: HP:0100551 created_by: peter creation_date: 2013-04-11T05:49:21Z [Term] id: HP:0012292 name: Fusion of gums def: "A congenital defect with an abnormal joining of the gums of the upper and lower jaw." [HPO:probinson, pmid:19858676] is_a: HP:0000168 ! Abnormality of the gingiva created_by: peter creation_date: 2013-04-11T05:52:35Z [Term] id: HP:0012293 name: Abnormal genital pigmentation def: "An abnormal pigmentation pattern of the external genitalia." [HPO:probinson] is_a: HP:0000811 ! Abnormal external genitalia created_by: peter creation_date: 2013-04-11T06:02:08Z [Term] id: HP:0012294 name: Abnormality of the occipital bone def: "Abnormality of the occipital bone of the skull." [HPO:probinson] is_a: HP:0000929 ! Abnormality of the skull property_value: HP:0040005 "Abnormality of the `occipital bone` (FMA:52735) of the skull." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-11T06:21:12Z [Term] id: HP:0012295 name: Slender middle phalanx of finger def: "Reduced diameter of the middle phalanx of finger." [HPO:probinson] is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand property_value: HP:0040005 "Reduced diameter of the `middle phalanx of finger` (FMA:75817)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-12T05:40:22Z [Term] id: HP:0012296 name: Slender distal phalanx of finger def: "Reduced diameter of the distal phalanx of finger." [HPO:probinson] is_a: HP:0009832 ! Abnormality of the distal phalanx of finger property_value: HP:0040005 "Reduced diameter of the `distal phalanx of finger` (FMA:75818)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-12T05:42:46Z [Term] id: HP:0012297 name: Slender proximal phalanx of finger def: "Reduced diameter of the proximal phalanx of finger." [HPO:probinson] is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand property_value: HP:0040005 "Reduced diameter of the `proximal phalanx of finger` (FMA:75816)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-12T05:45:35Z [Term] id: HP:0012298 name: Long middle phalanx of finger def: "Increased length of the middle phalanx of finger." [HPO:probinson] is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand property_value: HP:0040005 "Increased length of the `middle phalanx of finger` (FMA:75817)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-12T05:46:43Z [Term] id: HP:0012299 name: Long distal phalanx of finger def: "Increased length of the distal phalanx of finger." [HPO:probinson] is_a: HP:0009832 ! Abnormality of the distal phalanx of finger property_value: HP:0040005 "Increased length of the `distal phalanx of finger` (FMA:75818)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-04-12T05:48:52Z [Term] id: HP:0012300 name: Ureteral agenesis def: "Failure of the ureter to undergo development." [HPO:probinson] is_a: HP:0000069 ! Abnormality of the ureter created_by: peter creation_date: 2013-04-13T06:00:10Z [Term] id: HP:0012301 name: Type II transferrin isoform profile def: "Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation." [HPO:probinson, pmid:15105360, pmid:22516080] comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal. synonym: "Abnormal isoelectric focusing of serum transferrin (type 2 pattern)" RELATED [] synonym: "Abnormal isoelectric focusing of serum transferrin, type II pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with CDG type II" EXACT [] is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin created_by: peter creation_date: 2013-04-14T08:55:20Z [Term] id: HP:0012302 name: Herpes simplex encephalitis def: "A severe virus infection of the central nervous system by the herpes simplex virus (HSV)." [HPO:probinson] comment: Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV. is_a: HP:0005353 ! Susceptibility to herpesvirus created_by: peter creation_date: 2013-04-14T02:43:10Z [Term] id: HP:0012303 name: Abnormality of the aortic arch def: "An anomaly of the arch of aorta." [HPO:probinson] is_a: HP:0001679 ! Abnormality of the aorta property_value: HP:0040005 "An anomaly of the `arch of aorta`(FMA:3768)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-06T10:06:07Z [Term] id: HP:0012304 name: Hypoplastic aortic arch def: "Underdevelopment of the arch of aorta." [HPO:probinson] is_a: HP:0012303 ! Abnormality of the aortic arch property_value: HP:0040005 "Underdevelopment of the `arch of aorta`(FMA:3768)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-06T10:10:36Z [Term] id: HP:0012305 name: Coarctation of the descending aortic arch def: "Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta." [HPO:probinson] is_a: HP:0001680 ! Coarctation of aorta is_a: HP:0012303 ! Abnormality of the aortic arch property_value: HP:0040005 "Narrowing or constriction of the aorta localized to the region of the `descending trunk of arch of aorta`(FMA:13082)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-06T10:34:15Z [Term] id: HP:0012306 name: Abnormal rib ossification def: "An anomaly if the process of rib bone formation." [HPO:probinson] is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2013-08-10T09:31:03Z [Term] id: HP:0012307 name: Spatulate ribs def: "Ribs that are increased in width and taper to the posterior ends." [HPO:probinson, pmid:20504305] comment: This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name. is_a: HP:0000885 ! Broad ribs created_by: peter creation_date: 2013-08-10T10:15:15Z [Term] id: HP:0012308 name: Decreased serum complement C9 synonym: "Decreased serum C9" EXACT [] is_a: HP:0004431 ! Complement deficiency created_by: peter creation_date: 2013-08-10T11:07:25Z [Term] id: HP:0012309 name: Cutaneous amyloidosis def: "The presence of amyloid deposition in the superficial dermis." [HPO:probinson, pmid:19690585] is_a: HP:0011034 ! Amyloidosis property_value: HP:0040005 "The presence of `amyloid deposition` (MPATH:34) in the superficial dermis." xsd:string {xref="HPO:probinson", xref="pmid:19690585"} created_by: peter creation_date: 2013-08-10T11:59:57Z [Term] id: HP:0012310 name: Abnormal monocyte count def: "An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." [HPO:probinson] is_a: HP:0011893 ! Abnormal leukocyte count is_a: HP:0012144 ! Abnormality of cells of the monocyte/macrophage lineage property_value: HP:0040005 "An anomaly in the number of `monocytes` (CL:0000576), which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-10T12:07:14Z [Term] id: HP:0012311 name: Monocytosis def: "An increased number of circulating monocytes." [HPO:probinson] is_a: HP:0012310 ! Abnormal monocyte count property_value: HP:0040005 "An increased number of circulating `monocytes` (CL:0000576)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-10T12:09:16Z [Term] id: HP:0012312 name: Monocytopenia def: "An decreased number of circulating monocytes." [HPO:probinson] is_a: HP:0012310 ! Abnormal monocyte count property_value: HP:0040005 "An decreased number of circulating `monocytes` (CL:0000576)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-10T12:10:07Z [Term] id: HP:0012313 name: Heberden's node def: "Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage thzat are visible radiographically." [HPO:probinson, pmid:10531070, pmid:9709182] comment: Heberden's nodes are generally a sign of osteoarthritis. is_a: HP:0006247 ! Enlarged interphalangeal joints created_by: peter creation_date: 2013-08-10T12:19:59Z [Term] id: HP:0012314 name: Bouchard's node def: "Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage thzat are visible radiographically." [HPO:probinson, pmid:10531070, pmid:9709182] comment: Heberden's nodes are generally a sign of osteoarthritis. is_a: HP:0006247 ! Enlarged interphalangeal joints created_by: peter creation_date: 2013-08-10T12:27:25Z [Term] id: HP:0012315 name: Histiocytoma def: "A neoplasm containing histiocytes." [HPO:probinson] xref: MeSH:D051642 "Histiocytoma" is_a: HP:0012316 ! Fibrous tissue neoplasm created_by: peter creation_date: 2013-08-10T12:30:05Z [Term] id: HP:0012316 name: Fibrous tissue neoplasm def: "Any neoplasm composed of fibrous tissue." [HPO:probinson] xref: MeSH:D018218 "Neoplasms, Fibrous Tissue" is_a: HP:0011792 ! Neoplasm by histology created_by: peter creation_date: 2013-08-10T12:31:38Z [Term] id: HP:0012317 name: Sacroiliac arthritis def: "Inflammation of the sacroiliac joint, generally accompanied by lower back pain." [HPO:probinson] xref: MeSH:C563037 "Arthritis, Sacroiliac" is_a: HP:0002758 ! Osteoarthritis is_a: HP:0100781 ! Abnormality of the sacroiliac joint property_value: HP:0040005 "Inflammation of the `sacroiliac joint` (FMA:21440), generally accompanied by lower back pain." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-10T12:58:43Z [Term] id: HP:0012318 name: Occipital neuralgia def: "A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side." [HPO:probinson, pmid:21569290] comment: Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms. is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-08-10T01:07:45Z [Term] id: HP:0012319 name: Absent pigmentation of the abdomen def: "Lack of skin pigmentation (coloring) of the abdomen." [HPO:probinson] is_a: HP:0200098 ! Absent skin pigmentation created_by: peter creation_date: 2013-08-10T08:21:54Z [Term] id: HP:0012320 name: Absent pigmentation of the limbs def: "Lack of skin pigmentation (coloring) of the arms and legs." [HPO:probinson] is_a: HP:0200098 ! Absent skin pigmentation created_by: peter creation_date: 2013-08-10T08:22:30Z [Term] id: HP:0012321 name: D-2-hydroxyglutaric aciduria def: "An increased concentration of 2-hydroxyglutaric acid in the urine." [HPO:probinson, pmid:20847235] is_a: HP:0003215 ! Dicarboxylic aciduria property_value: HP:0040005 "An increased concentration of `2-hydroxyglutaric acid` (CHEBI:17084) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson", xref="pmid:20847235"} created_by: peter creation_date: 2013-08-11T08:46:46Z [Term] id: HP:0012322 name: Perifolliculitis def: "Inflammation surrounding hair follicles." [HPO:probinson] synonym: "Perifollicular inflammation" EXACT [] is_a: HP:0011123 ! Inflammatory abnormality of the skin created_by: peter creation_date: 2013-08-11T09:25:58Z [Term] id: HP:0012323 name: Sleep myoclonus def: "Myoclonus that occurs during the initial phases of sleep." [HPO:probinson] is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2013-08-11T10:21:47Z [Term] id: HP:0012324 name: Myeloid leukemia def: "A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow." [HPO:probinson] is_a: HP:0001909 ! Leukemia property_value: HP:0040005 "A leukemia that originates from a `myeloid cell` (CL:0000763), that is the blood forming cells of the bone marrow." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-12T06:38:18Z [Term] id: HP:0012325 name: Chronic myelomonocytic leukemia def: "A myelodysplastic-myeloproliferative disease characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood." [HPO:probinson, MeSH:D015477] xref: MeSH:D015477 "Leukemia, Myelomonocytic, Chronic" is_a: HP:0012324 ! Myeloid leukemia created_by: peter creation_date: 2013-08-12T06:45:11Z [Term] id: HP:0012326 name: Abnormality of the celiac artery def: "An anomaly of the celiac artery." [HPO:probinson] comment: The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta. is_a: HP:0005114 ! Abnormalities of the peripheral arteries property_value: HP:0040005 "An anomaly of the `celiac artery` (FMA:50737)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-12T08:47:21Z [Term] id: HP:0012327 name: Celiac artery compression def: "Compression of the celiac artery." [HPO:probinson] comment: This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament. synonym: "Celiac axis syndrome" RELATED [] synonym: "Dunbar syndrome" RELATED [] synonym: "Median arcuate ligament syndrome" RELATED [] is_a: HP:0012326 ! Abnormality of the celiac artery property_value: HP:0040005 "Compression of the `celiac artery` (FMA:50737)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-12T08:49:18Z [Term] id: HP:0012328 name: Cementoma def: "An odontogenic tumor of the cementum of tooth." [HPO:probinson] is_a: HP:0100612 ! Odontogenic neoplasm property_value: HP:0040005 "An odontogenic tumor of the `cementum of tooth` (FMA:55630)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-08-12T08:55:10Z [Term] id: HP:0012329 name: Tufted angioma def: "A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation." [HPO:probinson, pmid:2644316] synonym: "Angioblastoma" EXACT [] synonym: "Angioblastoma of Nakagawa" EXACT [] synonym: "Hypertrophic hemangioma" EXACT [] synonym: "Progressive capillary hemangioma" EXACT [] synonym: "Tufted hemangioma" EXACT [] is_a: HP:0001028 ! Hemangioma created_by: peter creation_date: 2013-08-12T08:57:58Z [Term] id: HP:0012330 name: Pyelonephritis def: "An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis (FMA:15575) and the kidney calices." [HPO:probinson] comment: Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting. xref: MeSH:D011704 "Pyelonephritis" is_a: HP:0000123 ! Nephritis property_value: HP:0040005 "An inflammation of the `kidney` (FMA:7203) involving the `parenchyma of kidney` (FMA:15574), the renal pelvis (FMA:15575) and the kidney calices." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-13T07:37:08Z [Term] id: HP:0012331 name: Abnormal autonomic nervous system morphology def: "A structural abnormality of the autonomic nervous system." [HPO:probinson] is_a: HP:0002270 ! Abnormality of the autonomic nervous system property_value: HP:0040005 "A structural abnormality of the `autonomic nervous system` (FMA:9905)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-13T07:52:31Z [Term] id: HP:0012332 name: Abnormal autonomic nervous system physiology def: "A functional abnormality of the autonomic nervous system." [HPO:probinson] is_a: HP:0002270 ! Abnormality of the autonomic nervous system property_value: HP:0040005 "A functional abnormality of the `autonomic nervous system` (FMA:9905)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-13T07:53:55Z [Term] id: HP:0012333 name: Abnormal sudomotor regulation def: "An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration." [HPO:probinson] comment: Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system. synonym: "Sudomotor sympathetic dysfunction" EXACT [] is_a: HP:0012332 ! Abnormal autonomic nervous system physiology created_by: peter creation_date: 2013-09-13T08:04:38Z [Term] id: HP:0012334 name: Extrahepatic cholestasis def: "Impairment of bile flow due to obstruction in large bile ducts outside the liver." [HPO:probinson] is_a: HP:0001396 ! Cholestasis created_by: peter creation_date: 2013-09-13T08:13:48Z [Term] id: HP:0012335 name: Abnormality of folate metabolism def: "An abnormality of the metabolism of folic acid, which is also known as vitamin B9." [HPO:probinson] is_a: HP:0004340 ! Abnormality of vitamin B metabolism property_value: HP:0040005 "An abnormality of the metabolism of `folic acid` (CHEBI:27470), which is also known as vitamin B9." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-13T08:38:06Z [Term] id: HP:0012336 name: Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration def: "A decreased concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid." [HPO:probinson] synonym: "Reduced CSF 5-methyltetrahydrofolate concentration" EXACT [] is_a: HP:0012335 ! Abnormality of folate metabolism property_value: HP:0040005 "A decreased concentration of `5-methyltetrahydrofolate` (CHEBI:20612) in the `cerebrospinal fluid` (FMA:20935)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-13T08:39:17Z [Term] id: HP:0012337 name: Abnormal homeostasis def: "An anomaly in the processes involved in the maintenance of an internal equilibrium." [HPO:probinson] xref: MP:0001764 "abnormal homeostasis" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2013-09-13T09:23:23Z [Term] id: HP:0012338 name: Abnormal energy expenditure def: "Any anomaly in the utilization of energy (calories)." [HPO:probinson] is_a: HP:0012337 ! Abnormal homeostasis created_by: peter creation_date: 2013-09-13T09:24:54Z [Term] id: HP:0012339 name: Increased resting energy expenditure def: "An increase in the number of calories used per unit time." [HPO:probinson] is_a: HP:0012338 ! Abnormal energy expenditure created_by: peter creation_date: 2013-09-13T09:25:29Z [Term] id: HP:0012340 name: Decreased resting energy expenditure def: "An reduction in the number of calories used per unit time." [HPO:probinson] is_a: HP:0012338 ! Abnormal energy expenditure created_by: peter creation_date: 2013-09-13T09:27:05Z [Term] id: HP:0012341 name: Microprolactinoma def: "A pituitary prolactin cell adenoma of less than 10 mm diameter." [HPO:probinson] is_a: HP:0006767 ! Pituitary prolactin cell adenoma created_by: peter creation_date: 2013-09-13T09:49:32Z [Term] id: HP:0012342 name: Macroprolactinoma def: "A pituitary prolactin cell adenoma of more than 10 mm diameter." [HPO:probinson] is_a: HP:0006767 ! Pituitary prolactin cell adenoma created_by: peter creation_date: 2013-09-13T09:50:29Z [Term] id: HP:0012343 name: Decreased serum ferritin def: "Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson] comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. synonym: "Reduced serum ferritin" EXACT [] is_a: HP:0040133 ! Abnormal serum ferritin created_by: peter creation_date: 2013-09-13T09:51:46Z [Term] id: HP:0012344 name: Morphea def: "Isolated patches of hardened skin (scleroderma)." [HPO:probinson] xref: MeSH:D012594 "Scleroderma, Localized" is_a: HP:0001072 ! Thickened skin created_by: peter creation_date: 2013-09-13T09:55:47Z [Term] id: HP:0012345 name: Abnormal glycosylation def: "An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." [HPO:probinson] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis property_value: HP:0040005 "An anomaly of a `glycosylation` (GO:0070085) process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-15T09:06:16Z [Term] id: HP:0012346 name: Abnormal protein glycosylation def: "An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." [HPO:probinson] is_a: HP:0012345 ! Abnormal glycosylation property_value: HP:0040005 "An anomaly of a `protein glycosylation` (GO:0006486) process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-15T09:09:40Z [Term] id: HP:0012347 name: Abnormal protein N-linked glycosylation def: "An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." [HPO:probinson, pmid:22516080] comment: Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling. is_a: HP:0012346 ! Abnormal protein glycosylation property_value: HP:0040005 "An anomaly of `protein N-linked glycosylation` (GO:0006487), i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein." xsd:string {xref="HPO:probinson", xref="pmid:22516080"} created_by: peter creation_date: 2013-09-15T09:29:59Z [Term] id: HP:0012348 name: Decreased galactosylation of N-linked protein glycosylation def: "A reduction in the amount of galactose residues of N-glycans." [HPO:probinson] comment: The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence. is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:02:47Z [Term] id: HP:0012349 name: Abnormal sialylation of N-linked protein glycosylation def: "An anomaly of the addition of sialic acids to N-linked glycans." [HPO:probinson] comment: The most common sialic acids is N-acetylneuraminic acid (Neu5Ac). is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:08:34Z [Term] id: HP:0012350 name: Decreased sialylation of N-linked protein glycosylation def: "Decreased addition of sialic acids to N-linked glycans." [HPO:probinson] is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:14:42Z [Term] id: HP:0012351 name: Increased sialylation of N-linked protein glycosylation def: "Increased addition of sialic acids to N-linked glycans." [HPO:probinson] is_a: HP:0012349 ! Abnormal sialylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:15:28Z [Term] id: HP:0012352 name: Abnormal fucosylation of protein N-linked glycosylation def: "An anomaly of the addition of fucose sugar units to N-linked glycans." [HPO:probinson] is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:17:55Z [Term] id: HP:0012353 name: Decreased fucosylation of N-linked protein glycosylation def: "Decreased addition of fucose sugar units to N-linked glycans." [HPO:probinson] is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:20:00Z [Term] id: HP:0012354 name: Increased fucosylation of N-linked protein glycosylation def: "Increased addition of fucose sugar units to N-linked glycans." [HPO:probinson] is_a: HP:0012352 ! Abnormal fucosylation of protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:21:15Z [Term] id: HP:0012355 name: Abnormal mannosylation of N-linked protein glycosylation def: "An anomaly of the addition of mannose to N-linked glycans." [HPO:probinson] is_a: HP:0012347 ! Abnormal protein N-linked glycosylation created_by: peter creation_date: 2013-09-15T10:23:53Z [Term] id: HP:0012356 name: Decreased mannosylation of N-linked protein glycosylation def: "Reduced addition of mannose to N-linked glycans." [HPO:probinson] is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:24:56Z [Term] id: HP:0012357 name: Increased mannosylation of N-linked protein glycosylation def: "Increased addition of mannose to N-linked glycans." [HPO:probinson] is_a: HP:0012355 ! Abnormal mannosylation of N-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:25:28Z [Term] id: HP:0012358 name: Abnormal protein O-linked glycosylation def: "An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." [HPO:probinson] is_a: HP:0012346 ! Abnormal protein glycosylation property_value: HP:0040005 "An anomaly of `protein O-linked glycosylation` (GO:0006493), i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-09-15T10:26:49Z [Term] id: HP:0012359 name: Abnormal fucosylation of O-linked protein glycosylation def: "An anomaly of the addition of fucose sugar units to O-linked glycans." [HPO:probinson] is_a: HP:0012358 ! Abnormal protein O-linked glycosylation created_by: peter creation_date: 2013-09-15T10:31:07Z [Term] id: HP:0012360 name: Decreased fucosylation of O-linked protein glycosylation def: "A reduction of the addition of fucose sugar units to O-linked glycans." [HPO:probinson] is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:33:00Z [Term] id: HP:0012361 name: Increased fucosylation of O-linked protein glycosylation def: "Increased addition of fucose sugar units to O-linked glycans." [HPO:probinson] is_a: HP:0012359 ! Abnormal fucosylation of O-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:34:38Z [Term] id: HP:0012362 name: Abnormal sialylation of O-linked protein glycosylation def: "An anomaly of the addition of sialic acids to O-linked glycans." [HPO:probinson] is_a: HP:0012358 ! Abnormal protein O-linked glycosylation created_by: peter creation_date: 2013-09-15T10:36:12Z [Term] id: HP:0012363 name: Decreased sialylation of O-linked protein glycosylation def: "An reduced addition of sialic acids to O-linked glycans." [HPO:probinson] is_a: HP:0012362 ! Abnormal sialylation of O-linked protein glycosylation created_by: peter creation_date: 2013-09-15T10:36:43Z [Term] id: HP:0012364 name: Decreased urinary potassium def: "A decreased concentration of potassium(1+) in the urine." [HPO:probinson] synonym: "Hypokaluria" EXACT [] is_a: HP:0012598 ! Abnormal urine potassium concentration property_value: HP:0040005 "A decreased concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-10-03T10:21:51Z [Term] id: HP:0012365 name: Hypophosphaturia def: "An abnormally decreased phosphate concentration in the urine." [HPO:probinson] is_a: HP:0012599 ! Abnormal urine phosphate concentration property_value: HP:0040005 "An abnormally decreased `phosphate` (CHEBI:18367) concentration in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-10-03T10:25:06Z [Term] id: HP:0012366 name: Basilar invagination def: "Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama)." [HPO:probinson, pmid:10084535] is_a: HP:0000932 ! Abnormality of the posterior cranial fossa created_by: peter creation_date: 2013-10-13T12:18:53Z [Term] id: HP:0012367 name: Extra fontanelles def: "Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull." [HPO:probinson] comment: Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles. subset: hposlim_core is_a: HP:0011328 ! Abnormality of fontanelles created_by: peter creation_date: 2013-10-13T12:27:03Z [Term] id: HP:0012368 name: Flat face def: "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436] comment: A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave. subset: hposlim_core synonym: "FLAT FACIAL PROFILE" RELATED [HPO:skoehler] is_a: HP:0001999 ! Abnormal facial shape created_by: peter creation_date: 2013-10-13T01:49:13Z [Term] id: HP:0012369 name: Malar anomaly def: "An anomaly of frontal process of maxilla." [HPO:probinson, pmid:19125436] comment: The malar process (also known as the frontal process or processus frontalis of the maxilla) is the most medial and superior part of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0005557 ! Abnormality of the zygomatic arch property_value: HP:0040005 "An anomaly of `frontal process of maxilla` (FMA:52894)." xsd:string {xref="HPO:probinson", xref="pmid:19125436"} created_by: peter creation_date: 2013-10-13T02:37:51Z [Term] id: HP:0012370 name: Cheekbone prominence def: "Enlargement of the zygomatic process of the temporal bone of the skull, which forms the middle and lateral inferior orbital margin." [pmid:19125436] subset: hposlim_core synonym: "Zygomatic hyperplasia" EXACT [] synonym: "Zygomatic prominence" EXACT [] is_a: HP:0010668 ! Abnormality of the zygomatic bone created_by: peter creation_date: 2013-10-13T02:50:15Z [Term] id: HP:0012371 name: Midface prominence alt_id: HP:0010279 def: "Anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle." [HPO:probinson, pmid:19125436] comment: This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or depth (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia. subset: hposlim_core synonym: "Hyperplasia of the maxilla" EXACT [] synonym: "Maxillary hyperplasia" EXACT [] synonym: "Midface hyperplasia" EXACT [] synonym: "Midface hypertrophy" EXACT [] synonym: "OVERGROWTH OF THE MAXILLA" RELATED [HPO:skoehler] xref: UMLS:C0240309 "Maxillary hyperplasia" is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0000326 ! Abnormality of the maxilla created_by: peter creation_date: 2013-10-13T02:55:54Z [Term] id: HP:0012372 name: Abnormal eye morphology def: "A structural anomaly of the eye." [HPO:probinson] is_a: HP:0000478 ! Abnormality of the eye property_value: HP:0040005 "A structural anomaly of the `eye` (FMA:54448)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-10-13T03:44:43Z [Term] id: HP:0012373 name: Abnormal eye physiology def: "A functional anomaly of the eye." [HPO:probinson] is_a: HP:0000478 ! Abnormality of the eye property_value: HP:0040005 "A functional anomaly of the `eye` (FMA:54448)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-10-13T03:45:37Z [Term] id: HP:0012374 name: Abnormality of the globe def: "An anomaly of the eyeball." [HPO:probinson] comment: This term is used to separate anomalies of the eye proper from the ocular adnexa such as the eyelid and the tear glands. subset: hposlim_core is_a: HP:0012372 ! Abnormal eye morphology property_value: HP:0040005 "An anomaly of the `eyeball` (FMA:12513)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-10-13T03:50:35Z [Term] id: HP:0012375 name: Chemosis def: "Edema (swelling) of the bulbar conjunctiva." [HPO:probinson] is_a: HP:0000502 ! Abnormality of the conjunctiva created_by: peter creation_date: 2013-10-13T05:45:45Z [Term] id: HP:0012376 name: Microphakia def: "Abnormal smallness of the lens." [HPO:probinson] subset: hposlim_core is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens property_value: HP:0040005 "Abnormal smallness of the `lens` (FMA:58241)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-10-13T06:11:11Z [Term] id: HP:0012377 name: Hemianopsia def: "Partial or complete loss of vision in one half of the visual field of one or both eyes." [HPO:probinson] synonym: "Hemianosia" RELATED [] xref: MeSH:D006423 "Hemianopsia" is_a: HP:0000505 ! Visual impairment created_by: peter creation_date: 2013-10-13T07:55:21Z [Term] id: HP:0012378 name: Fatigue def: "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] comment: Fatigue is distinct from muscle weakness. xref: MeSH:D005221 "Fatigue" is_a: HP:0000708 ! Behavioral abnormality created_by: peter creation_date: 2013-10-15T08:52:04Z [Term] id: HP:0012379 name: Abnormal enzyme/coenzyme activity def: "An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme." [HPO:probinson, MP:0005584] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2013-10-15T08:58:55Z [Term] id: HP:0012380 name: Reduced carnitine O-palmitoyltransferase activity def: "Reduced carnitine O-palmitoyltransferase activity, i.e., reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine." [HPO:probinson] is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: HP:0040005 "Reduced `carnitine O-palmitoyltransferase activity` (GO:0004095), i.e., reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-10-15T09:00:17Z [Term] id: HP:0012381 name: Delayed self-feeding during toddler years def: "A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age)." [HPO:probinson] is_a: HP:0011968 ! Feeding difficulties created_by: peter creation_date: 2013-10-16T11:46:54Z [Term] id: HP:0012382 name: Left-to-right shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right." [HPO:mhaendel] is_a: HP:0001693 ! Cardiac shunt created_by: peter creation_date: 2013-10-16T11:54:21Z [Term] id: HP:0012383 name: Bidirectional shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa." [HPO:mhaendel] is_a: HP:0001693 ! Cardiac shunt created_by: peter creation_date: 2013-10-16T11:54:45Z [Term] id: HP:0012384 name: Rhinitis def: "Inflammation of the nasal mucosa with nasal congestion." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:68235000 "Nasal congestion" xref: SNOMEDCT:70076002 "Rhinitis" xref: UMLS:C0027424 "Nasal congestion" xref: UMLS:C0035455 "Rhinitis" is_a: HP:0000366 ! Abnormality of the nose created_by: hecht creation_date: 2013-10-19T05:37:08Z [Term] id: HP:0012385 name: Camptodactyly def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:29271008 "Camptodactyly" is_a: HP:0030044 ! Flexion contracture of digit created_by: hecht creation_date: 2013-10-20T08:08:19Z [Term] id: HP:0012386 name: Absent hallux def: "Aplasia of the hallux, that is, a development defect such that the big toe does not develop." [HPO:probinson] synonym: "Agenesis of the halluces" EXACT [] synonym: "Aplasia of the hallux" EXACT [] is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux created_by: hecht creation_date: 2013-10-20T12:03:14Z [Term] id: HP:0012387 name: Bronchitis def: "Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi." [HPO:probinson] xref: MeSH:D001991 "Bronchitis" is_a: HP:0011947 ! Respiratory tract infection created_by: peter creation_date: 2013-11-07T07:24:16Z [Term] id: HP:0012388 name: Acute bronchitis def: "Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness." [HPO:probinson] is_a: HP:0012387 ! Bronchitis created_by: peter creation_date: 2013-11-07T07:27:42Z [Term] id: HP:0012389 name: Appendicular hypotonia def: "Muscular hypotonia of one or more limbs." [HPO:probinson] is_a: HP:0001252 ! Muscular hypotonia created_by: peter creation_date: 2013-11-07T07:31:51Z [Term] id: HP:0012390 name: Anal fissure def: "A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus." [HPO:probinson] xref: MeSH:D005401 "Fissure in Ano" is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2013-11-07T07:36:49Z [Term] id: HP:0012391 name: Hyporeflexia of upper limbs def: "Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson] is_a: HP:0001265 ! Hyporeflexia is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2013-11-07T07:42:49Z [Term] id: HP:0012392 name: Jaw hyporeflexia def: "Reduced intensity of muscle tendon reflexes in jaw." [HPO:probinson] comment: The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed. is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0001265 ! Hyporeflexia created_by: peter creation_date: 2013-11-07T07:43:29Z [Term] id: HP:0012393 name: Allergy def: "An allergy is an immune response or reaction to substances that are usually not harmful." [HPO:probinson] xref: MeSH:D006967 "Hypersensitivity" is_a: HP:0100326 ! Immunologic hypersensitivity created_by: peter creation_date: 2013-11-07T07:47:22Z [Term] id: HP:0012394 name: Iodine contrast allergy def: "Allergy to iodine contrast media used in radiological studies." [HPO:probinson] is_a: HP:0012393 ! Allergy created_by: peter creation_date: 2013-11-07T07:49:32Z [Term] id: HP:0012395 name: Seasonal allergy def: "An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction." [HPO:probinson] is_a: HP:0012393 ! Allergy created_by: peter creation_date: 2013-11-07T07:51:48Z [Term] id: HP:0012396 name: Biliary dyskinesia def: "A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction." [HPO:probinson, pmid:12095476] xref: MeSH:D001657 "Biliary dyskinesia" is_a: HP:0012439 ! Abnormal biliary tract physiology created_by: peter creation_date: 2013-11-07T07:56:55Z [Term] id: HP:0012397 name: Aortic atherosclerosis def: "The presence of atheromas or atherosclerotic plaques in the aorta." [HPO:probinson, pmid:16818829] synonym: "Atherosclerosis of the aorta" EXACT [] synonym: "Atherosclerotic changes of aorta" EXACT [] is_a: HP:0001679 ! Abnormality of the aorta is_a: HP:0002621 ! Atherosclerosis property_value: HP:0040005 "The presence of atheromas or atherosclerotic plaques in the `aorta` (FMA:3734)." xsd:string {xref="HPO:probinson", xref="pmid:16818829"} created_by: peter creation_date: 2013-11-07T08:04:30Z [Term] id: HP:0012398 name: Peripheral edema def: "An abnormal accumulation of the accumulation of interstitial fluid in the soft tissues of the limbs." [HPO:probinson] is_a: HP:0000969 ! Edema created_by: peter creation_date: 2013-11-08T08:09:45Z [Term] id: HP:0012399 name: Pressure ulcer def: "A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips." [HPO:probinson] comment: Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound. synonym: "Bedsore" EXACT [] synonym: "Decubitus Ulcer" EXACT [] synonym: "Pressure Sore" EXACT [] xref: MeSH:D003668 "Pressure Ulcer" is_a: HP:0200042 ! Skin ulcer created_by: peter creation_date: 2013-11-08T08:49:52Z [Term] id: HP:0012400 name: Abnormal aldolase level def: "An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate." [HPO:probinson] comment: The reaction catalyzed by aldolase is a component of the glycolysis pathway. is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity created_by: peter creation_date: 2013-11-09T03:35:35Z [Term] id: HP:0012401 name: Abnormal urine alpha-ketoglutarate concentration def: "A deviation from normal of the concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. synonym: "Abnormality of urine alpha ketoglutarate concentration" EXACT [] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "A deviation from normal of the concentration of `2-oxoglutaric acid` (CHEBI:30915) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-09T03:45:40Z [Term] id: HP:0012402 name: Increased urine alpha-ketoglutarate concentration def: "A greater than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration property_value: HP:0040005 "A greater than normal concentration of `2-oxoglutaric acid` (CHEBI:30915) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-09T03:48:37Z [Term] id: HP:0012403 name: Decreased urine alpha-ketoglutarate concentration def: "A lower than normal concentration of 2-oxoglutaric acid in the urine." [HPO:probinson] comment: Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid. is_a: HP:0012401 ! Abnormal urine alpha-ketoglutarate concentration property_value: HP:0040005 "A lower than normal concentration of `2-oxoglutaric acid` (CHEBI:30915) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-09T03:49:45Z [Term] id: HP:0012404 name: Abnormal urine citrate concentration def: "A deviation from normal of the concentration of citrate(3-) in the urine." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "A deviation from normal of the concentration of `citrate(3-)` (CHEBI:16947) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-09T03:51:30Z [Term] id: HP:0012405 name: Hypocitraturia def: "A lower than normal concentration of citrate(3-) in the urine." [HPO:probinson] synonym: "Decreased urine citrate concentration" EXACT [] is_a: HP:0012404 ! Abnormal urine citrate concentration property_value: HP:0040005 "A lower than normal concentration of `citrate(3-)` (CHEBI:16947) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-09T03:54:41Z [Term] id: HP:0012406 name: Hypercitraturia def: "A greater than normal concentration of citrate(3-) in the urine." [HPO:probinson] synonym: "Increased urine citrate concentration" EXACT [] is_a: HP:0012404 ! Abnormal urine citrate concentration property_value: HP:0040005 "A greater than normal concentration of `citrate(3-)` (CHEBI:16947) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-09T03:56:26Z [Term] id: HP:0012407 name: Scissor gait def: "A form of gait abnormality characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use." [HPO:probinson] comment: Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy. is_a: HP:0001288 ! Gait disturbance created_by: peter creation_date: 2013-11-09T04:15:36Z [Term] id: HP:0012408 name: Medullary nephrocalcinosis def: "The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney)." [ORDCID:0000-0001-5208-3432] is_a: HP:0000121 ! Nephrocalcinosis created_by: peter creation_date: 2013-11-10T10:45:27Z [Term] id: HP:0012409 name: Cortical nephrocalcinosis def: "The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla)." [HPO:probinson] is_a: HP:0000121 ! Nephrocalcinosis created_by: peter creation_date: 2013-11-10T11:03:33Z [Term] id: HP:0012410 name: Pure red cell aplasia def: "A type of anemia resuting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction." [HPO:probinson] comment: Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes. synonym: "Red cell aplasia" EXACT [] xref: MeSH:D012010 "Red-Cell Aplasia, Pure" is_a: HP:0012131 ! Abnormal number of erythroid precursors created_by: peter creation_date: 2013-11-10T11:36:59Z [Term] id: HP:0012411 name: Premature pubarche def: "The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson] is_a: HP:0000826 ! Precocious puberty created_by: peter creation_date: 2013-11-10T11:50:16Z [Term] id: HP:0012412 name: Premature adrenarche def: "Onset of adrenarche at an earlier age than usual." [HPO:probinson] comment: Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS). is_a: HP:0100000 ! Early onset of sexual maturation created_by: peter creation_date: 2013-11-10T11:58:02Z [Term] id: HP:0012413 name: Notched primary central incisor def: "The presence of a V-shaped indentation (notch) in the primary central incisor." [HPO:probinson] synonym: "Hutchinson's teeth" RELATED [] is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2013-11-10T12:07:34Z [Term] id: HP:0012414 name: Duodenal atrophy def: "Wasting or decrease in size of all or part of the duodenum." [HPO:probinson] is_a: HP:0002246 ! Abnormality of the duodenum created_by: peter creation_date: 2013-11-10T12:20:19Z [Term] id: HP:0012415 name: Abnormal blood gas level def: "An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood." [HPO:probinson] is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2013-11-10T04:59:20Z [Term] id: HP:0012416 name: Hypercapnia def: "Abnormally elevated blood carbon dioxide (CO2) level." [HPO:probinson] synonym: "Hypercarbia" EXACT [] xref: MeSH:D006935 "Hypercapnia" is_a: HP:0012415 ! Abnormal blood gas level created_by: peter creation_date: 2013-11-10T05:04:49Z [Term] id: HP:0012417 name: Hypocapnia def: "Abnormally reduced blood carbon dioxide (CO2) level." [HPO:probinson] xref: MeSH:D016857 "Hypocapnia" is_a: HP:0012415 ! Abnormal blood gas level created_by: peter creation_date: 2013-11-10T05:06:10Z [Term] id: HP:0012418 name: Hypoxemia def: "An abnormally low level of blood oxygen." [HPO:probinson] comment: Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. is_a: HP:0012415 ! Abnormal blood gas level created_by: peter creation_date: 2013-11-10T05:07:07Z [Term] id: HP:0012419 name: Hyperoxemia def: "An abnormally high level of blood oxygen." [HPO:probinson] comment: Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value. xref: MeSH:Hyperoxia "D018496" is_a: HP:0012415 ! Abnormal blood gas level created_by: peter creation_date: 2013-11-10T05:09:04Z [Term] id: HP:0012420 name: Meconium stained amniotic fluid def: "Amniotic fluid containing the earliest stools of a mammalian infant." [HPO:probinson] comment: Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome. synonym: "Meconium staining of amniotic fluid" EXACT [] synonym: "Meconium-stained amniotic fluid" EXACT [] is_a: HP:0001560 ! Abnormality of the amniotic fluid created_by: peter creation_date: 2013-11-10T06:01:40Z [Term] id: HP:0012421 name: Congenital absence of foreskin def: "Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis." [HPO:probinson] comment: Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately. synonym: "Absent foreskin" EXACT [] synonym: "Aposthia" EXACT [] is_a: HP:0100587 ! Abnormality of the preputium property_value: HP:0040005 "Congenital lack of the `skin of prepuce of penis` (FMA:27648), that is, of the double-layered fold of skin and mucous membrane that covers the glans penis." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-10T06:17:21Z [Term] id: HP:0012422 name: Villous hypertrophy of choroid plexus def: "Overgrowth of the choroid plexus." [HPO:probinson, pmid:16523225] comment: The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF. synonym: "Choroid plexus hypertrophy" EXACT [] synonym: "Diffuse villous hypertrophy of choroid plexus" RELATED [] is_a: HP:0007376 ! Abnormality of the choroid plexus property_value: HP:0040005 "Overgrowth of the `choroid plexus` (FMA:61934)." xsd:string {xref="HPO:probinson", xref="pmid:16523225"} created_by: peter creation_date: 2013-11-11T07:50:37Z [Term] id: HP:0012423 name: Colonic inertia def: "The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days." [HPO:probinson, pmid:23449085] is_a: HP:0012700 ! Abnormal large intestine physiology created_by: peter creation_date: 2013-11-11T08:04:46Z [Term] id: HP:0012424 name: Chorioretinitis def: "An inflammation of the choroid and retina." [ORCID:0000-0001-5208-3432] comment: Chorioretinitis is a form of posterior uveitis. Choroiditis refers to inflammation that affects only the choroid and not the retina. is_a: HP:0000532 ! Chorioretinal abnormality created_by: peter creation_date: 2013-11-11T08:10:29Z [Term] id: HP:0012425 name: Stercoral ulcer def: "An ulcer of the colon due to pressure and irritation from retained fecal masses." [ORCID:0000-0001-5208-3432, pmid:7065551] comment: Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area. synonym: "Recto-sigmoid colon stercoral ulcer" RELATED [] is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2013-11-12T10:28:18Z [Term] id: HP:0012426 name: Optic disc drusen def: "Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve." [HPO:probinson, pmid:22787500, pmid:23658477] comment: Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema). xref: MeSH:D015594 "Optic Disk Drusen" is_a: HP:0012795 ! Abnormality of the optic disc created_by: peter creation_date: 2013-11-12T10:36:06Z [Term] id: HP:0012427 name: Excessive femoral anteversion def: "An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward." [HPO:probinson, ORCID:0000-0001-5208-3432] comment: Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood. is_a: HP:0002823 ! Abnormality of the femur created_by: peter creation_date: 2013-11-12T10:51:07Z [Term] id: HP:0012428 name: Prominent calcaneus def: "Protruding heel bone, or calcaneus." [ORCID:0000-0001-5208-3432] synonym: "Prominent heel bone" EXACT [] is_a: HP:0008364 ! Abnormality of the calcaneus property_value: HP:0040005 "Protruding heel bone, or `calcaneus`(FMA:24496)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-12T11:04:49Z [Term] id: HP:0012429 name: Aplasia/Hypoplasia of the cerebral white matter def: "Absence or underdevelopment of the cerebral white matter." [HPO:probinson] is_a: HP:0002500 ! Abnormality of the cerebral white matter property_value: HP:0040005 "Absence or underdevelopment of the `cerebral white matter` (FMA:241998)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-13T07:39:37Z [Term] id: HP:0012430 name: Cerebral white matter hypoplasia def: "Underdevelopment of the cerebral white matter." [HPO:probinson] synonym: "Paucity of cerebral white matter" RELATED [] is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter property_value: HP:0040005 "Underdevelopment of the `cerebral white matter` (FMA:241998)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-13T07:42:02Z [Term] id: HP:0012431 name: Episodic fatigue def: "Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] is_a: HP:0012378 ! Fatigue created_by: peter creation_date: 2013-11-13T07:45:40Z [Term] id: HP:0012432 name: Chronic fatigue def: "Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer." [ORCID:0000-0001-5208-3432] comment: Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities. is_a: HP:0012378 ! Fatigue created_by: peter creation_date: 2013-11-13T07:49:08Z [Term] id: HP:0012433 name: Abnormal social behavior def: "An abnormality of actions or reactions of a person taking place during interactions with others." [HPO:probinson] synonym: "Abnormal social behaviour" EXACT [] synonym: "Abnormal social interactions" RELATED [] is_a: HP:0000708 ! Behavioral abnormality created_by: peter creation_date: 2013-11-23T08:37:01Z [Term] id: HP:0012434 name: Delayed social development def: "A failure to meet one or more age-related milestones of social behavior." [HPO:probinson] comment: This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers. is_a: HP:0012433 ! Abnormal social behavior is_a: HP:0012758 ! Neurodevelopmental delay created_by: peter creation_date: 2013-11-23T08:40:29Z [Term] id: HP:0012435 name: Ventral shortening of foreskin def: "Reduction in length of the ventral (lower) skin of prepuce of penis." [ORCID:0000-0001-5208-3432] is_a: HP:0100587 ! Abnormality of the preputium property_value: HP:0040005 "Reduction in length of the ventral (lower) `skin of prepuce of penis` (FMA:27648)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-23T08:45:20Z [Term] id: HP:0012436 name: Nonocclusive coronary artery disease def: "Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries." [ORCID:0000-0001-5208-3432] synonym: "Non-occlusive coronary artery disease" EXACT [] synonym: "Non-occlusive coronary artery stenosis" RELATED [] synonym: "Nonocclusive coronary artery stenosis" RELATED [] is_a: HP:0001677 ! Coronary artery disease created_by: peter creation_date: 2013-11-23T08:50:05Z [Term] id: HP:0012437 name: Abnormal gallbladder morphology def: "A structural anomaly of the gallbladder." [HPO:probinson] is_a: HP:0005264 ! Abnormality of the gallbladder property_value: HP:0040005 "A structural anomaly of the `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-23T01:13:40Z [Term] id: HP:0012438 name: Abnormal gallbladder physiology def: "A functional anomaly of the gallbladder." [HPO:probinson] is_a: HP:0005264 ! Abnormality of the gallbladder property_value: HP:0040005 "A functional anomaly of the `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-23T01:17:00Z [Term] id: HP:0012439 name: Abnormal biliary tract physiology def: "A functional abnormality of the biliary tree." [HPO:probinson] is_a: HP:0001080 ! Biliary tract abnormality property_value: HP:0040005 "A functional abnormality of the `biliary tree` (FMA:14665)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-23T02:14:51Z [Term] id: HP:0012440 name: Abnormal biliary tract morphology def: "A structural abnormality of the biliary tree." [HPO:probinson] synonym: "Anomaly of the biliary tract" EXACT [] is_a: HP:0001080 ! Biliary tract abnormality property_value: HP:0040005 "A structural abnormality of the `biliary tree` (FMA:14665)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-23T02:15:33Z [Term] id: HP:0012441 name: Sphincter of Oddi dyskinesia def: "Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum." [HPO:probinson] comment: The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis. synonym: "Sphincter of Oddi dysfunction" RELATED [] is_a: HP:0012396 ! Biliary dyskinesia property_value: HP:0040005 "Reduced motility through the `sphincter of Oddi` (FMA:15077), resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-23T02:21:59Z [Term] id: HP:0012442 name: Gallbladder dyskinesia def: "Reduced motility of the gallbladder with reduced emptying fraction." [HPO:probinson, pmid:12095476, pmid:17761125] comment: Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent. is_a: HP:0012396 ! Biliary dyskinesia created_by: peter creation_date: 2013-11-23T02:28:07Z [Term] id: HP:0012443 name: Abnormality of brain morphology def: "A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain." [HPO:probinson] synonym: "Abnormality of the brain" EXACT [] is_a: HP:0002011 ! Morphological abnormality of the central nervous system property_value: HP:0040005 "A structural abnormality of the `brain` (FMA:50801), which has as its parts the forebrain, midbrain, and hindbrain." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-23T02:38:00Z [Term] id: HP:0012444 name: Brain atrophy def: "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] is_a: HP:0001322 ! Brain very small is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system is_a: HP:0012443 ! Abnormality of brain morphology created_by: peter creation_date: 2013-11-23T02:46:15Z [Term] id: HP:0012446 name: Low CSF 5-methyltetrahydrofolate def: "A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite." [HPO:probinson] synonym: "Cerebral folate deficiency" RELATED [] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid property_value: HP:0040005 "A reduced concentration of `5-methyltetrahydrofolate(2-)` (CHEBI:18608) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-23T03:40:41Z [Term] id: HP:0012447 name: Abnormal myelination def: "Any anomaly in the process by which myelin sheaths are formed and maintained around neurons." [HPO:probinson, MP:0000920] xref: UMLS:C1857704 "Abnormal myelination" is_a: HP:0012639 ! Abnormality of nervous system morphology created_by: peter creation_date: 2013-11-23T03:45:58Z [Term] id: HP:0012448 name: Delayed myelination def: "Delayed myelination." [ORCID:0000-0001-5208-3432] xref: UMLS:C1277241 "Delayed myelination" is_a: HP:0012447 ! Abnormal myelination property_value: HP:0040005 "`Delayed` (PATO:0000502) `myelination` (GO:0042552)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-23T03:47:56Z [Term] id: HP:0012449 name: Sacroiliac joint synovitis def: "Inflammation of the synovial membrane of the sacroiliac joint." [ORCID:0000-0001-5208-3432] is_a: HP:0100781 ! Abnormality of the sacroiliac joint property_value: HP:0040005 "Inflammation of the synovial membrane of the `sacroiliac joint` (FMA:21440)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-23T03:54:32Z [Term] id: HP:0012450 name: Chronic constipation def: "Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432] is_a: HP:0002019 ! Constipation created_by: peter creation_date: 2013-11-23T04:03:43Z [Term] id: HP:0012451 name: Acute constipation def: "Constipation of sudden onset and lasting for less than three months." [ORCID:0000-0001-5208-3432] is_a: HP:0002019 ! Constipation created_by: peter creation_date: 2013-11-23T04:06:37Z [Term] id: HP:0012452 name: Restless legs def: "A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia)." [HPO:probinson] comment: Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. synonym: "Restless legs syndrome" RELATED [] synonym: "Willis-Ekbom disease" RELATED [] synonym: "Wittmaack-Ekbom syndrome" RELATED [] xref: MeSH:D012148 "Restless Legs Syndrome" is_a: HP:0002360 ! Sleep disturbance created_by: peter creation_date: 2013-11-23T07:42:59Z [Term] id: HP:0012453 name: Bilateral wrist flexion contracture def: "A chronic loss of wrist joint motion on the right and left sides." [HPO:probinson] synonym: "Bilateral wrist contracture" RELATED [] is_a: HP:0001239 ! Wrist flexion contracture created_by: peter creation_date: 2013-11-23T07:58:50Z [Term] id: HP:0012454 name: Unilateral wrist flexion contracture def: "A chronic loss of wrist joint motion on one side only." [HPO:probinson] synonym: "Unilateral wrist contracture" RELATED [] is_a: HP:0001239 ! Wrist flexion contracture created_by: peter creation_date: 2013-11-23T07:59:39Z [Term] id: HP:0012455 name: Large artery calcification def: "Calcification, that is, pathological deposition of calcium salts, of the large, conduit arteries (aorta, subclavian, carotid, iliac, renal, axillary, femoral, brachial)." [ORCID:0000-0001-5208-3432, pmid:20930091] is_a: HP:0003207 ! Arterial calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts, of the large, conduit arteries (aorta, subclavian, carotid, iliac, renal, axillary, femoral, brachial)." xsd:string {xref="ORCID:0000-0001-5208-3432", xref="pmid:20930091"} created_by: peter creation_date: 2013-11-24T10:42:24Z [Term] id: HP:0012456 name: Medial arterial calcification def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries." [HPO:probinson] comment: Medial arterial calcification causes stiffening and decreased compliance of the affected arteries. is_a: HP:0003207 ! Arterial calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts in the tunica media of arteries." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-24T10:50:45Z [Term] id: HP:0012457 name: Medial calcification of medium-sized arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries." [HPO:probinson] is_a: HP:0012456 ! Medial arterial calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-24T11:11:13Z [Term] id: HP:0012458 name: Medial calcification of small arteries def: "Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries." [HPO:probinson] comment: The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells. is_a: HP:0012456 ! Medial arterial calcification property_value: HP:0040005 "`Calcification` (PATO:0001447), that is, pathological deposition of calcium salts in the tunica media of small arteries." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-24T11:13:13Z [Term] id: HP:0012459 name: Hypnic headache def: "A headache disorder that occurs exclusively at night, waking the affected individual from sleep." [HPO:probinson, pmid:20585827, pmid:23832130] comment: Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes. synonym: "Alarm clock headache" EXACT [] is_a: HP:0002315 ! Headache created_by: peter creation_date: 2013-11-24T11:20:18Z [Term] id: HP:0012460 name: Dysmorphic inferior cerebellar vermis def: "A structural anomaly of the inferior portion of the vermis of cerebellum." [ORCID:0000-0001-5208-3432] is_a: HP:0002334 ! Abnormality of the cerebellar vermis property_value: HP:0040005 "A structural anomaly of the inferior portion of the `vermis of cerebellum` (FMA:76928)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-24T11:59:06Z [Term] id: HP:0012461 name: Bacteriuria def: "The presence of bacteria in the urine." [ORCID:0000-0001-5208-3432] comment: The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection. xref: MeSH:D001437 "Bacteriuria" is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2013-11-24T12:15:47Z [Term] id: HP:0012462 name: Chin myoclonus def: "Involuntary and irregular twitches of the chin." [HPO:probinson, pmid:16816905] synonym: "Chin spasms" RELATED [] synonym: "Geniospasm" EXACT [] is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2013-11-24T12:26:38Z [Term] id: HP:0012463 name: Elevated transferrin saturation def: "An above normal level of saturation of serum transferrin with iron." [HPO:probinson] comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. is_a: HP:0040135 ! Abnormal transferrin saturation created_by: peter creation_date: 2013-11-24T12:46:56Z [Term] id: HP:0012464 name: Decreased transferrin saturation def: "A below normal level of saturation of serum transferrin with iron." [HPO:probinson] comment: Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation. is_a: HP:0040135 ! Abnormal transferrin saturation created_by: peter creation_date: 2013-11-24T12:51:51Z [Term] id: HP:0012465 name: Elevated hepatic iron concentration def: "An increased level of iron in liver tissues." [HPO:probinson, pmid:10922422, pmid:14668426] comment: This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging. is_a: HP:0040134 ! Abnormal hepatic iron concentration created_by: peter creation_date: 2013-11-24T12:54:57Z [Term] id: HP:0012466 name: Chronic respiratory acidosis def: "Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L)." [HPO:probinson] is_a: HP:0005972 ! Respiratory acidosis is_a: HP:0012468 ! Chronic acidosis created_by: peter creation_date: 2013-11-24T01:11:15Z [Term] id: HP:0012467 name: Acute respiratory acidosis def: "Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35)." [HPO:probinson] is_a: HP:0005972 ! Respiratory acidosis created_by: peter creation_date: 2013-11-24T01:11:51Z [Term] id: HP:0012468 name: Chronic acidosis def: "Longstanding abnormal acid accumulation or depletion of base." [ORCID:0000-0001-5208-3432] is_a: HP:0001941 ! Acidosis created_by: peter creation_date: 2013-11-24T01:16:31Z [Term] id: HP:0012469 name: Infantile spasms def: "Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig] is_a: HP:0011097 ! Epileptic spasms created_by: peter creation_date: 2013-11-26T05:36:45Z [Term] id: HP:0012470 name: Setting-sun eye phenomenon def: "An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid." [HPO:probinson, pmid:17030938] comment: Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure. synonym: "Eyes fixed downward" RELATED [] synonym: "Sun setting eyes" EXACT [] synonym: "Sunsetting eye" EXACT [] is_a: HP:0000597 ! Ophthalmoparesis created_by: peter creation_date: 2013-11-26T05:40:01Z [Term] id: HP:0012471 name: Thick vermilion border def: "Increased width of the \"skin of vermilion border region of upper lip\" (FMA:312645)." [HPO:probinson] synonym: "Full lips" EXACT [] synonym: "PROMINENT LIPS" EXACT [HPO:skoehler] synonym: "Thick lips" EXACT [] is_a: HP:0000159 ! Abnormality of the lip created_by: peter creation_date: 2013-11-26T09:07:51Z [Term] id: HP:0012472 name: Eclabion def: "A turning outward of the lip or lips, that is, eversion of the lips." [HPO:probinson] synonym: "Eclabium" EXACT [] xref: UMLS:C1848738 "Eclabion" is_a: HP:0000159 ! Abnormality of the lip created_by: peter creation_date: 2013-11-26T10:20:23Z [Term] id: HP:0012473 name: Tongue atrophy def: "Wasting of the tongue." [ORCID:0000-0001-5208-3432] synonym: "Atrophy of the tongue" EXACT [] is_a: HP:0000157 ! Abnormality of the tongue property_value: HP:0040005 "Wasting of the `tongue` (FMA:54640)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-26T10:32:31Z [Term] id: HP:0012474 name: Carotid artery occlusion def: "Complete obstruction of a carotid artery." [ORCID:0000-0001-5208-3432] comment: Carotid artery occlusion is usually caused by caused by atherosclerosis. is_a: HP:0005344 ! Abnormality of the carotid arteries created_by: peter creation_date: 2013-11-27T10:11:40Z [Term] id: HP:0012475 name: Specific antibody deficiency def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism." [HPO:probinson, pmid:17100769] is_a: HP:0010701 ! Abnormal immunoglobulin level created_by: peter creation_date: 2013-11-27T10:21:15Z [Term] id: HP:0012476 name: Specific pneumococcal antibody deficiency def: "The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci." [HPO:probinson] is_a: HP:0012475 ! Specific antibody deficiency created_by: peter creation_date: 2013-11-27T10:28:04Z [Term] id: HP:0012477 name: Vocal tremor def: "A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability." [HPO:probinson, pmid:22505778] is_a: HP:0002345 ! Action tremor created_by: peter creation_date: 2013-11-28T07:11:37Z [Term] id: HP:0012478 name: Temporomandibular joint ankylosis def: "Fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening." [ORCID:0000-0001-5208-3432] synonym: "Temporomandibular joint fusion" EXACT [] is_a: HP:0010754 ! Abnormality of the temporomandibular joint created_by: peter creation_date: 2013-11-28T07:24:24Z [Term] id: HP:0012479 name: Temporomandibular joint crepitus def: "Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound." [HPO:probinson] is_a: HP:0010754 ! Abnormality of the temporomandibular joint created_by: peter creation_date: 2013-11-28T07:28:13Z [Term] id: HP:0012480 name: Abnormality of cerebral veins def: "An anomaly of cerebral veins." [HPO:probinson] is_a: HP:0100659 ! Abnormality of the cerebral vasculature property_value: HP:0040005 "An anomaly of `cerebral veins` (FMA:70861)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-28T08:01:32Z [Term] id: HP:0012481 name: Cerebral venous angioma def: "A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system." [HPO:probinson, pmid:8770251] comment: DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system. synonym: "Developmental Venous Anomaly" EXACT [] is_a: HP:0012480 ! Abnormality of cerebral veins created_by: peter creation_date: 2013-11-28T08:03:08Z [Term] id: HP:0012482 name: Frontal venous angioma def: "A venous angioma of the frontal lobe of the brain." [HPO:probinson] is_a: HP:0012481 ! Cerebral venous angioma created_by: peter creation_date: 2013-11-28T08:12:07Z [Term] id: HP:0012483 name: Abnormal alpha granules def: "Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury." [DDD:wouwehand, pmid:8467233] comment: This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen. is_a: HP:0011883 ! Abnormal platelet granules created_by: peter creation_date: 2013-11-29T07:44:49Z [Term] id: HP:0012484 name: Abnormal dense granules def: "Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium , histamine and serotonin." [DDD:wouwehand] comment: This feature can be observed by electron microscopy. is_a: HP:0011883 ! Abnormal platelet granules created_by: peter creation_date: 2013-11-29T07:48:08Z [Term] id: HP:0012485 name: Abnormal surface-connected open canalicular system def: "An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction." [HPO:probinson, pmid:1760557] is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2013-11-29T07:55:15Z [Term] id: HP:0012486 name: Myelitis def: "Inflammation of the spinal cord." [HPO:probinson] xref: MeSH:D009187 "Myelitis" is_a: HP:0002143 ! Abnormality of the spinal cord property_value: HP:0040005 "Inflammation of the `spinal cord` (FMA:7647)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-29T08:10:12Z [Term] id: HP:0012487 name: Cerebellopontine angle arachnoid cyst def: "An arachnoid cyst located at the margin of the cerebellum and pons." [ORCID:0000-0001-5208-3432] is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2013-11-29T09:03:39Z [Term] id: HP:0012488 name: Intraventricular arachnoid cyst def: "An arachnoid cyst located within the ventricular system." [HPO:probinson, pmid:8951893] comment: Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists. is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2013-11-29T09:08:46Z [Term] id: HP:0012489 name: Suprasellar arachnoid cyst def: "An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards." [HPO:probinson, pmid:21586175] comment: As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus. is_a: HP:0100702 ! Arachnoid cyst created_by: peter creation_date: 2013-11-29T09:11:20Z [Term] id: HP:0012490 name: Panniculitis def: "Inflammation of adipose tissue20110)." [HPO:probinson] comment: Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules. xref: MeSH:D015434 "Panniculitis" is_a: HP:0009124 ! Abnormality of adipose tissue property_value: HP:0040005 "Inflammation of `adipose tissue` (FMA)20110)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-29T09:28:11Z [Term] id: HP:0012491 name: Abnormal dense tubular system def: "An anomaly of the intracellular membrane complexes known as the dense tubular system." [DDD:wouwehand, pmid:1322202] comment: The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form. is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2013-11-29T09:35:44Z [Term] id: HP:0012492 name: Cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of a cerebral artery." [ORCID:0000-0001-5208-3432] is_a: HP:0009145 ! Abnormality of cerebral artery created_by: peter creation_date: 2013-11-30T08:00:55Z [Term] id: HP:0012493 name: Middle cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery." [HPO:probinson] is_a: HP:0012492 ! Cerebral artery stenosis property_value: HP:0040005 "Narrowing or constriction of the inner surface (lumen) of the `middle cerebral artery` (FMA:50079)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T08:04:27Z [Term] id: HP:0012494 name: Anterior cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery." [HPO:probinson] is_a: HP:0012492 ! Cerebral artery stenosis property_value: HP:0040005 "Narrowing or constriction of the inner surface (lumen) of the `anterior cerebral artery` (FMA:50028)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T08:06:15Z [Term] id: HP:0012495 name: Posterior cerebral artery stenosis def: "Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery." [HPO:probinson] is_a: HP:0012492 ! Cerebral artery stenosis property_value: HP:0040005 "Narrowing or constriction of the inner surface (lumen) of the `posterior cerebral artery` (FMA:50583)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T08:07:04Z [Term] id: HP:0012496 name: Reduced maximal inspiratory pressure def: "A decrease in the maximum amount of negative pressure a person can generate during an inhalation." [ORCID:0000-0001-5208-3432] is_a: HP:0004347 ! Weakness of muscles of respiration created_by: peter creation_date: 2013-11-30T08:24:33Z [Term] id: HP:0012497 name: Reduced maximal expiratory pressure def: "A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration." [ORCID:0000-0001-5208-3432] is_a: HP:0004347 ! Weakness of muscles of respiration created_by: peter creation_date: 2013-11-30T08:28:49Z [Term] id: HP:0012498 name: Nuchal cord def: "A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times." [HPO:probinson] xref: MeSH:D053589 "Nuchal Cord" is_a: HP:0001787 ! Abnormal delivery created_by: peter creation_date: 2013-11-30T08:32:27Z [Term] id: HP:0012499 name: Descending aortic dissection def: "A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." [HPO:probinson] is_a: HP:0002647 ! Aortic dissection property_value: HP:0040005 "A separation of the layers within the wall of the `descending aorta` (FMA:3784). Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T08:44:18Z [Term] id: HP:0012500 name: Verrucous papule def: "A wartlike (with multiple small elevated projections) papule." [HPO:probinson] is_a: HP:0200034 ! Papule created_by: peter creation_date: 2013-11-30T09:03:16Z [Term] id: HP:0012501 name: Abnormality of the brainstem white matter def: "An anomaly of the white matter of brainstem." [HPO:probinson] is_a: HP:0002363 ! Abnormality of brainstem morphology property_value: HP:0040005 "An anomaly of the `white matter of brainstem` (FMA:282112)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T09:19:46Z [Term] id: HP:0012502 name: Abnormality of the internal capsule def: "An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus." [HPO:probinson] is_a: HP:0002500 ! Abnormality of the cerebral white matter property_value: HP:0040005 "An anomaly of the `internal capsule` (FMA:61950), which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T09:29:18Z [Term] id: HP:0012503 name: Abnormality of the pituitary gland def: "An anomaly of the pituitary gland." [HPO:probinson] synonym: "disorder of pituitary gland" EXACT [] is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis is_a: HP:0012443 ! Abnormality of brain morphology property_value: HP:0040005 "An anomaly of the `pituitary gland` (FMA:13889)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T09:34:21Z [Term] id: HP:0012504 name: Abnormal size of pituitary gland def: "A deviation from the normal size of the pituitary gland." [HPO:probinson] is_a: HP:0012503 ! Abnormality of the pituitary gland property_value: HP:0040005 "A deviation from the normal size of the `pituitary gland` (FMA:13889)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-11-30T09:36:04Z [Term] id: HP:0012505 name: Enlarged pituitary gland def: "An abnormally increased size of the pituitary gland." [ORCID:0000-0001-5208-3432] is_a: HP:0012504 ! Abnormal size of pituitary gland property_value: HP:0040005 "An abnormally increased size of the `pituitary gland` (FMA:13889)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-30T09:36:45Z [Term] id: HP:0012506 name: Small pituitary gland def: "An abnormally decreased size of the pituitary gland." [ORCID:0000-0001-5208-3432] is_a: HP:0012504 ! Abnormal size of pituitary gland property_value: HP:0040005 "An abnormally decreased size of the `pituitary gland` (FMA:13889)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-11-30T09:37:34Z [Term] id: HP:0012507 name: Weakness of orbicularis oculi muscle def: "Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid." [HPO:probinson] synonym: "WEAKNESS OF ORBICULARIS OCULI MUSCLES" EXACT [HPO:skoehler] is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001324 ! Muscle weakness property_value: HP:0040005 "Reduced strength of the `orbicularis oculi` (FMA:46779), the circumorbital muscle in the face that closes the eyelid." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-12-08T08:12:54Z [Term] id: HP:0012508 name: Metamorphopsia def: "A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank." [HPO:probinson] is_a: HP:0000504 ! Abnormality of vision created_by: peter creation_date: 2013-12-08T08:21:46Z [Term] id: HP:0012509 name: Reduced thyroxin-binding globulin def: "An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream." [HPO:probinson] comment: Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid. is_a: HP:0010876 ! Abnormality of circulating protein level created_by: peter creation_date: 2013-12-08T08:25:46Z [Term] id: HP:0012510 name: Extra-axial cerebrospinal fluid accumulation def: "An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space." [HPO:probinson, pmid:22327705, pmid:23838695] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: peter creation_date: 2013-12-08T08:37:34Z [Term] id: HP:0012511 name: Temporal optic disc pallor def: "A pale yellow discoloration of the temporal (lateral) portion of the optic disc." [HPO:probinson, pmid:19668477] comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone (FMA:52737) at the side of the head. is_a: HP:0000543 ! Optic disc pallor created_by: peter creation_date: 2013-12-08T08:55:48Z [Term] id: HP:0012512 name: Diffuse optic disc pallor def: "A pale yellow discoloration of the entire optic disc." [HPO:probinson, pmid:19668477] comment: Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone (FMA:52737) at the side of the head. is_a: HP:0000543 ! Optic disc pallor created_by: peter creation_date: 2013-12-08T09:02:25Z [Term] id: HP:0012513 name: Upper limb pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm." [ORCID:0000-0001-5208-3432] is_a: HP:0009763 ! Limb pain created_by: peter creation_date: 2013-12-08T09:07:11Z [Term] id: HP:0012514 name: Lower limb pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg." [ORCID:0000-0001-5208-3432] is_a: HP:0009763 ! Limb pain created_by: peter creation_date: 2013-12-08T09:10:29Z [Term] id: HP:0012515 name: Hip flexor weakness def: "Reduced ability to flex the femur, that is, to pull the knee upward." [ORCID:0000-0001-5208-3432] comment: Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh. is_a: HP:0003749 ! Pelvic girdle muscle weakness created_by: peter creation_date: 2013-12-08T09:14:34Z [Term] id: HP:0012516 name: Tetralogy of Fallot with pulmonary atresia def: "An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries." [ORCID:0000-0001-5208-3432, pmid:22368654] comment: Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA. is_a: HP:0001636 ! Tetralogy of Fallot created_by: peter creation_date: 2013-12-08T09:44:24Z [Term] id: HP:0012517 name: Reduced catalase activity def: "An abnormally decreased amount of catalase activity." [HPO:probinson] comment: Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen. is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity property_value: HP:0040005 "An abnormally decreased amount of `catalase activity` (GO:0004096)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-12-09T06:49:18Z [Term] id: HP:0012518 name: Abnormality of circle of Willis def: "An anomaly of the circle of Willis, also known as the cerebral arterial circle." [HPO:probinson] comment: The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries. is_a: HP:0009145 ! Abnormality of cerebral artery property_value: HP:0040005 "An anomaly of the `circle of Willis` (FMA:50454), also known as the cerebral arterial circle." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-12-09T07:03:02Z [Term] id: HP:0012519 name: Hypoplastic posterior communicating artery def: "Underdeveloped posterior communicating artery." [ORCID:0000-0001-5208-3432] comment: The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis. synonym: "Hypoplastic posterior communicating arteries" RELATED [] is_a: HP:0012518 ! Abnormality of circle of Willis property_value: HP:0040005 "Underdeveloped `posterior communicating artery` (FMA:50084)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2013-12-09T07:06:12Z [Term] id: HP:0012520 name: Perivascular spaces def: "Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery." [ORCID:0000-0001-5208-3432, pmid:17620468, pmid:23867200] comment: Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences. synonym: "Dilatation of Virchow-Robin spaces" EXACT [] synonym: "Dilated cerebral perivascular spaces" RELATED [] synonym: "Dilated Virchow-Robin spaces" EXACT [] is_a: HP:0100659 ! Abnormality of the cerebral vasculature created_by: peter creation_date: 2013-12-09T07:17:47Z [Term] id: HP:0012521 name: Optic nerve aplasia def: "Congenital absence of the optic nerve." [HPO:probinson] synonym: "Aplastic optic nerve" EXACT [] is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve property_value: HP:0040005 "Congenital absence of the `optic nerve` (FMA:50863)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2013-12-12T02:15:31Z [Term] id: HP:0012522 name: Spider hemangioma def: "A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released." [HPO:probinson, pmid:22356347] comment: Spider hemangiomas are up to a few centimeters in diameter. is_a: HP:0100585 ! Teleangiectasia of the skin created_by: peter creation_date: 2013-12-14T08:31:15Z [Term] id: HP:0012523 name: Oral aversion def: "Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing)." [ORCID:0000-0001-5208-3432] is_a: HP:0100738 ! Abnormal eating behavior created_by: peter creation_date: 2013-12-14T09:18:51Z [Term] id: HP:0012524 name: Abnormal platelet shape def: "A deviation from the normal discoid platelet shape." [DD:WHO] is_a: HP:0011875 ! Abnormal platelet morphology created_by: peter creation_date: 2013-12-15T08:55:03Z [Term] id: HP:0012525 name: Abnormal alpha granule distribution def: "An anomalous location and arrangement of platelet alpha granules." [DDD:wouwehand] is_a: HP:0012483 ! Abnormal alpha granules created_by: peter creation_date: 2013-12-15T08:56:17Z [Term] id: HP:0012526 name: Absence of alpha granules def: "A lack of platelet alpha granules." [HPO:probinson, pmid:3877532] is_a: HP:0012528 ! Abnormal number of alpha granules created_by: peter creation_date: 2013-12-15T08:57:46Z [Term] id: HP:0012527 name: Abnormal alpha granule content def: "A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor." [HPO:probinson] comment: The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. is_a: HP:0012483 ! Abnormal alpha granules created_by: peter creation_date: 2013-12-15T09:02:48Z [Term] id: HP:0012528 name: Abnormal number of alpha granules def: "A deviation from the normal count of alpha granules per thrombocyte." [DDD:wouwehand] is_a: HP:0012483 ! Abnormal alpha granules created_by: peter creation_date: 2013-12-15T09:07:34Z [Term] id: HP:0012529 name: Abnormal dense granule content def: "A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated." [DDD:wouwehand] is_a: HP:0012484 ! Abnormal dense granules created_by: peter creation_date: 2013-12-15T09:12:44Z [Term] id: HP:0012530 name: Abnormal number of dense granules def: "A deviation from the normal count of dense granules per thrombocyte." [DDD:wouwehand] is_a: HP:0012484 ! Abnormal dense granules created_by: peter creation_date: 2013-12-15T09:12:55Z [Term] id: HP:0012531 name: Pain def: "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2013-12-15T09:38:08Z [Term] id: HP:0012532 name: Chronic pain def: "Persistent pain, usually defined as pain that has laster longer than 3 to 6 months." [HPO:probinson, pmid:1875958] comment: Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. is_a: HP:0012531 ! Pain created_by: peter creation_date: 2013-12-15T09:46:55Z [Term] id: HP:0012533 name: Allodynia def: "Pain due to a stimulus that does not normally provoke pain." [HPO:probinson] is_a: HP:0012531 ! Pain created_by: peter creation_date: 2013-12-15T09:47:40Z [Term] id: HP:0012534 name: Dysesthesia def: "Abnormal sensations with no apparent physical cause that are painful or unpleasant." [ORCID:0000-0001-5208-3432] comment: Dysesthesia is a subclass of paresthesia in which the sensations are unpleasant or disagreeable. synonym: "Dysaesthesia" EXACT [] synonym: "DYSESTHESIAS" RELATED [HPO:skoehler] is_a: HP:0003401 ! Paresthesia created_by: peter creation_date: 2013-12-15T09:59:55Z [Term] id: HP:0012535 name: Abnormal synaptic transmission def: "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process." [HPO:probinson, MP:0003635] synonym: "Abnormality of neurotransmitter metabolism" EXACT [] is_a: HP:0012638 ! Abnormality of nervous system physiology property_value: HP:0040005 "An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of `neurotransmitter metabolic process` (GO:0042133)." xsd:string {xref="HPO:probinson", xref="MP:0003635"} created_by: peter creation_date: 2013-12-15T10:12:31Z [Term] id: HP:0012536 name: Maternal anticardiolipin antibody positive def: "The presence of circulating autoantibodies to anticardiolipin in the mother." [ORCID:0000-0001-5208-3432, pmid:1495720, pmid:9722063] comment: There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies. is_a: HP:0011437 ! Maternal autoimmune disease created_by: peter creation_date: 2013-12-15T10:20:51Z [Term] id: HP:0012537 name: Food intolerance def: "A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction." [HPO:probinson] synonym: "Non-allergic food hypersensitivity" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2013-12-15T10:25:19Z [Term] id: HP:0012538 name: Gluten intolerance def: "A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease." [HPO:probinson] is_a: HP:0001984 ! Intolerance to protein created_by: peter creation_date: 2013-12-15T10:31:34Z [Term] id: HP:0012539 name: Non-Hodgkin lymphoma def: "A typer of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells." [HPO:probinson] is_a: HP:0002665 ! Lymphoma created_by: peter creation_date: 2013-12-15T10:45:49Z [Term] id: HP:0012540 name: Axillary epidermoid cyst def: "An epidermoid cyst in the armpit." [ORCID:0000-0001-5208-3432] is_a: HP:0200040 ! Epidermoid cyst created_by: peter creation_date: 2013-12-15T10:35:39Z [Term] id: HP:0012541 name: Cephalohematoma def: "Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum." [ORCID:0000-0001-5208-3432] comment: Cephalohematoma is generally caused by trauma during labor. synonym: "Cephalohaematoma" EXACT [] is_a: HP:0001787 ! Abnormal delivery is_a: HP:0001892 ! Abnormal bleeding created_by: peter creation_date: 2013-12-15T10:37:57Z [Term] id: HP:0012542 name: Onychauxis def: "Thickened nails without deformity." [HPO:probinson] is_a: HP:0001805 ! Thick nail created_by: peter creation_date: 2013-12-15T10:49:45Z [Term] id: HP:0012543 name: Hemosiderinuria def: "The presence of hemosiderin in the urine." [HPO:probinson] comment: Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin. is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2013-12-21T09:09:38Z [Term] id: HP:0012544 name: Elevated aldolase level def: "An increased concentration of fructose 1,6-bisphosphate aldolase in the serum." [ORCID:0000-0001-5208-3432] comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. is_a: HP:0012400 ! Abnormal aldolase level created_by: peter creation_date: 2013-12-21T09:18:43Z [Term] id: HP:0012545 name: Reduced aldolase level def: "An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum." [ORCID:0000-0001-5208-3432] comment: Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. is_a: HP:0012400 ! Abnormal aldolase level created_by: peter creation_date: 2013-12-21T09:20:49Z [Term] id: HP:0012546 name: Skewed maternal X inactivation def: "A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells." [HPO:probinson, pmid:18097476] comment: X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status. is_a: HP:0002686 ! Prenatal maternal abnormality created_by: peter creation_date: 2013-12-21T09:22:57Z [Term] id: HP:0012547 name: Abnormal involuntary eye movements def: "Anomalous movements of the eyes that occur without the subject wanting them to happen." [HPO:probinson] is_a: HP:0000496 ! Abnormality of eye movement created_by: peter creation_date: 2013-12-21T10:37:42Z [Term] id: HP:0012548 name: Fatty replacement of skeletal muscle def: "Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers" [HPO:probinson, Neuromics:vstraub] comment: Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography. synonym: "Skeletal muscle fatty infiltration" EXACT [] is_a: HP:0011805 ! Abnormality of muscle morphology created_by: peter creation_date: 2014-01-01T03:03:05Z [Term] id: HP:0012549 name: Conjunctival lipoma def: "A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva." [HPO:probinson] comment: Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells. is_a: HP:0000502 ! Abnormality of the conjunctiva created_by: peter creation_date: 2014-01-01T03:13:56Z [Term] id: HP:0012550 name: Colonic varices def: "The presence of varices (enlarged and convoluted blood vessels) in the colon." [HPO:probinson, pmid:16688816] comment: Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension nd more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum. is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2014-01-01T03:54:41Z [Term] id: HP:0012551 name: Absent neutrophil specific granules def: "Lack of specific granules in neutrophils." [HPO:probinson, pmid:6155073] comment: Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums. is_a: HP:0011992 ! Abnormality of neutrophil morphology created_by: peter creation_date: 2014-01-01T03:32:09Z [Term] id: HP:0012552 name: Increased neutrophil nuclear projections def: "Presence of an elevanted number of projections from nuclei of neutrophils. Ths projections can have the shape of hooks, tags, or clubs." [HPO:probinson] is_a: HP:0011992 ! Abnormality of neutrophil morphology created_by: peter creation_date: 2014-01-01T03:41:24Z [Term] id: HP:0012553 name: Hypoplastic thumbnail def: "A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail." [HPO:probinson] is_a: HP:0001804 ! Hypoplastic fingernail property_value: HP:0040005 "A thumbnail that is diminished in length and width, i.e., underdeveloped `thumb nail` (FMA:54329)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-04T12:57:28Z [Term] id: HP:0012554 name: Absent thumbnail def: "Absence of thumb nail." [HPO:probinson] is_a: HP:0001817 ! Absent fingernail property_value: HP:0040005 "Absence of `thumb nail` (FMA:54329)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-04T01:05:52Z [Term] id: HP:0012555 name: Absent nail of hallux def: "Absent nail of big toe." [HPO:probinson] synonym: "Absent big toe nail" EXACT [] synonym: "Absent nail of big toe" EXACT [] is_a: HP:0001802 ! Absent toenail property_value: HP:0040005 "Absent `nail of big toe` (FMA:54344)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-04T01:06:39Z [Term] id: HP:0012556 name: Hyperbetaalaninemia def: "Increased concentration of beta-alanine in the blood." [HPO:probinson] synonym: "Hyperbeta-alaninemia" EXACT [] is_a: HP:0004337 ! Abnormality of amino acid metabolism property_value: HP:0040005 "Increased concentration of `beta-alanine` (CHEBI:16958) in the blood." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-04T01:37:23Z [Term] id: HP:0012557 name: EEG with centrotemporal focal spike waves def: "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:probinson] is_a: HP:0011197 ! EEG with focal spike waves created_by: peter creation_date: 2014-01-04T01:43:32Z [Term] id: HP:0012558 name: Abnormal T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal." [HPO:probinson, pmid:16982586] is_a: HP:0002926 ! Abnormality of thyroid physiology created_by: peter creation_date: 2014-01-04T01:50:30Z [Term] id: HP:0012559 name: Increased T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal." [HPO:probinson] is_a: HP:0012558 ! Abnormal T3/T4 ratio created_by: peter creation_date: 2014-01-04T01:52:59Z [Term] id: HP:0012560 name: Decreased T3/T4 ratio def: "A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal." [HPO:probinson] is_a: HP:0012558 ! Abnormal T3/T4 ratio created_by: peter creation_date: 2014-01-04T01:54:13Z [Term] id: HP:0012561 name: Unicuspid aortic valve def: "The presence of an aortic valve with one instead of the normal three cusps (flaps)." [HPO:probinson, pmid:18480095, pmid:20329493] comment: The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV. xref: UMLS:C0149630 "Bicuspid aortic valve" is_a: HP:0001646 ! Abnormality of the aortic valve property_value: HP:0040005 "The presence of an `aortic valve` (FMA:7236) with one instead of the normal three cusps (flaps)." xsd:string {xref="HPO:probinson", xref="pmid:18480095", xref="pmid:20329493"} created_by: peter creation_date: 2014-01-08T08:14:15Z [Term] id: HP:0012562 name: Premature epimetaphyseal fusion in hand def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:02:35Z [Term] id: HP:0012563 name: Premature epimetaphyseal fusion in foot def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:05:25Z [Term] id: HP:0012564 name: Premature epimetaphyseal fusion in tibia def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:07:34Z [Term] id: HP:0012565 name: Premature epimetaphyseal fusion in fibula def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:08:23Z [Term] id: HP:0012566 name: Premature epimetaphyseal fusion in radius def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:09:50Z [Term] id: HP:0012567 name: Premature epimetaphyseal fusion in ulna def: "Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone." [HPO:probinson] is_a: HP:0010588 ! Premature epimetaphyseal fusion created_by: peter creation_date: 2014-01-04T02:10:05Z [Term] id: HP:0012568 name: Lower eyelid edema def: "Edema in the region of the Lower eyelid." [ORCID:0000-0001-5208-3432] is_a: HP:0100540 ! Palpebral edema property_value: HP:0040005 "Edema in the region of the `Lower eyelid` (FMA:54442)." xsd:string {xref="ORCID:0000-0001-5208-3432"} created_by: peter creation_date: 2014-01-04T02:25:56Z [Term] id: HP:0012569 name: Delayed menarche def: "First period after the age of 15 years." [HPO:probinson] is_a: HP:0000140 ! Abnormality of the menstrual cycle is_a: HP:0000823 ! Delayed puberty created_by: peter creation_date: 2014-01-08T08:20:18Z [Term] id: HP:0012570 name: Synovial sarcoma def: "A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities." [HPO:probinson] comment: Synovial sarcoma is a high-grade tumor that is associated with poor prognosis. xref: MeSH:D013584 "Sarcoma, Synovial" is_a: HP:0100242 ! Sarcoma created_by: peter creation_date: 2014-01-08T08:47:50Z [Term] id: HP:0012571 name: Ureter fissus def: "A partial duplication of the ureter such that the duplicated ureters fuse to a single ureter before their insertion into the bladder." [Eurenomics:ewuehl] comment: This anomaly is only seen in the presence of renal duplication. synonym: "Partially duplicated ureter" EXACT [] xref: ICD-10:Q62.5 "Duplication of ureter" is_a: HP:0000081 ! Duplicated collecting system created_by: peter creation_date: 2014-01-16T11:38:41Z [Term] id: HP:0012572 name: Ureter duplex def: "A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder." [Eurenomics:fschaefer] xref: ICD-10:Q62.5 "Duplication of ureter" is_a: HP:0000081 ! Duplicated collecting system created_by: peter creation_date: 2014-01-16T11:42:00Z [Term] id: HP:0012573 name: Global proximal tubulopathy def: "A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis." [HPO:probinson] is_a: HP:0000114 ! Proximal tubulopathy created_by: peter creation_date: 2014-01-16T12:27:40Z [Term] id: HP:0012574 name: Mesangial proliferation def: "Increased numbers of mesangial cells per glomerulus." [Eurenomics:fschaefer] is_a: HP:0001966 ! Mesangial abnormality created_by: peter creation_date: 2014-01-16T12:43:25Z [Term] id: HP:0012575 name: Abnormality of the nephron def: "A structural anomaly of the nephron." [Eurenomics:fschaefer] is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "A structural anomaly of the `nephron` (FMA:17640)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-16T12:49:04Z [Term] id: HP:0012576 name: C3 nephropathy def: "The presence of complement 3 deposits in the glomerulus." [Eurenomics:ewuehl] is_a: HP:0000095 ! Abnormality of the glomerulus created_by: peter creation_date: 2014-01-16T01:08:21Z [Term] id: HP:0012577 name: Thin glomerular basement membrane def: "Reduction in thickness of the basal lamina of the glomerulus of the kidney." [HPO:probinson] comment: This finding is demonstrated on renal biopsy. is_a: HP:0000095 ! Abnormality of the glomerulus created_by: peter creation_date: 2014-01-16T01:21:17Z [Term] id: HP:0012578 name: Membranous nephropathy def: "A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space." [Eurenomics:fschaefer] synonym: "Membranous glomerulonephritis" EXACT [] xref: MeSH:D015433 "Glomerulonephritis, Membranous" is_a: HP:0000099 ! Glomerulonephritis created_by: peter creation_date: 2014-01-16T01:22:41Z [Term] id: HP:0012579 name: Minimal change glomerulonephritis def: "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [Eurenomics:fschaefer] synonym: "Minimal change disease" EXACT [] synonym: "Minimal change nephropathy" EXACT [] is_a: HP:0000099 ! Glomerulonephritis created_by: peter creation_date: 2014-01-16T01:26:20Z [Term] id: HP:0012580 name: Calcium phosphate nephrolithiasis def: "The presence of calcium- and phosphate-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Calcium phosphate urolithiasis" RELATED [] is_a: HP:0004724 ! Calcium nephrolithiasis created_by: peter creation_date: 2014-01-16T01:34:27Z [Term] id: HP:0012581 name: Solitary renal cyst def: "An isolated cyst of the kidney." [Eurenomics:ewuehl] is_a: HP:0000107 ! Renal cyst created_by: peter creation_date: 2014-01-16T03:06:37Z [Term] id: HP:0012582 name: Bilateral renal dysplasia def: "A bilateral form of developmental dysplasia of the kidney." [HPO:probinson] xref: UMLS:C0431697 "Unilateral renal dysplasia" is_a: HP:0000110 ! Renal dysplasia property_value: HP:0040005 "A bilateral form of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-16T03:14:35Z [Term] id: HP:0012583 name: Unilateral renal hypoplasia def: "One sided hypoplasia of the kidney." [Eurenomics:fschaefer] is_a: HP:0000089 ! Renal hypoplasia property_value: HP:0040005 "One sided `hypoplasia` (MPATH:133) of the `kidney` (FMA:7203)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-16T03:15:30Z [Term] id: HP:0012584 name: Bilateral renal hypoplasia def: "Two sided hypoplasia of the kidney." [Eurenomics:fschaefer] is_a: HP:0000089 ! Renal hypoplasia property_value: HP:0040005 "Two sided `hypoplasia` (MPATH:133) of the `kidney` (FMA:7203)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-16T03:16:03Z [Term] id: HP:0012585 name: Renal atrophy def: "Atrophy of the kidney." [HPO:probinson] is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "`Atrophy` (MPATH:127) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-16T03:21:19Z [Term] id: HP:0012586 name: Bilateral renal atrophy def: "A two-sided form of atrophy of the kidney." [HPO:probinson] is_a: HP:0012585 ! Renal atrophy property_value: HP:0040005 "A two-sided form of `atrophy` (MPATH:127) of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-16T03:21:55Z [Term] id: HP:0012587 name: Macroscopic hematuria def: "Hematuria that is visible upon inspection of the urine." [HPO:sdoelken] is_a: HP:0000790 ! Hematuria created_by: peter creation_date: 2014-01-16T03:31:44Z [Term] id: HP:0012588 name: Steroid-resistant nephrotic syndrome def: "A form of nephrotic syndrome that does not respond to treatment with steroid medication." [Eurenomics:ewuehl] is_a: HP:0000100 ! Nephrotic syndrome created_by: peter creation_date: 2014-01-16T03:47:57Z [Term] id: HP:0012589 name: Multidrug-resistant nephrotic syndrome def: "A form of nephrotic syndrome that does not respond to any immunosuppresive treatment." [Eurenomics:ewuehl] is_a: HP:0000100 ! Nephrotic syndrome created_by: peter creation_date: 2014-01-16T03:48:49Z [Term] id: HP:0012590 name: Abnormal urine output def: "Ab abnormal amount of urine production." [Eurenomics:ewuehl] is_a: HP:0011036 ! Abnormality of renal excretion created_by: peter creation_date: 2014-01-16T03:59:33Z [Term] id: HP:0012591 name: Abnormal urinary electrolyte concentration is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2014-01-16T05:44:11Z [Term] id: HP:0012592 name: Albuminuria def: "Increased concentration of albumin in the urine." [Eurenomics:fschaefer] is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:49:16Z [Term] id: HP:0012593 name: Nephrotic range proteinuria def: "Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children." [Eurenomics:ewuehl] is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:50:21Z [Term] id: HP:0012594 name: Microalbuminuria def: "The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day)." [Eurenomics:fschaefer] is_a: HP:0012592 ! Albuminuria created_by: peter creation_date: 2014-01-16T05:54:41Z [Term] id: HP:0012595 name: Mild proteinuria def: "Mildly increased levels of protein in the urine (150-500 mg per day in adults)." [Eurenomics:eweuehl] is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:55:47Z [Term] id: HP:0012596 name: Moderate proteinuria def: "Moderately increased levels of protein in the urine (500-1000 mg per day in adults)." [Eurenomics:fschaefer] is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:56:26Z [Term] id: HP:0012597 name: Heavy proteinuria def: "Severely increased levels of protein in the urine (1000-3000 mg per day in adults)." [Eurenomics:ewuehl] is_a: HP:0000093 ! Proteinuria created_by: peter creation_date: 2014-01-16T05:56:38Z [Term] id: HP:0012598 name: Abnormal urine potassium concentration def: "An abnormal concentration of potassium(1+) in the urine." [Eurenomics:fschaefer] is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: HP:0040005 "An abnormal concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-16T06:11:59Z [Term] id: HP:0012599 name: Abnormal urine phosphate concentration def: "An abnormal phosphate concentration in the urine." [Eurenomics:ewuehl] is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: HP:0040005 "An abnormal `phosphate` (CHEBI:18367) concentration in the urine." xsd:string {xref="Eurenomics:ewuehl"} created_by: peter creation_date: 2014-01-16T06:14:49Z [Term] id: HP:0012600 name: Abnormal urine chloride concentration def: "An abnormal concentration of chloride in the urine." [Eurenomics:fschaefer] is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: HP:0040005 "An abnormal concentration of `chloride` (CHEBI:17996) in the `urine` (FMA:12274)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-16T06:16:24Z [Term] id: HP:0012601 name: Hypochloriduria def: "An decreased concentration of chloride in the urine." [HPO:probinson] synonym: "Decreased urinary chloride" EXACT [] is_a: HP:0012600 ! Abnormal urine chloride concentration property_value: HP:0040005 "An decreased concentration of `chloride` (CHEBI:17996) in the `urine` (FMA:12274)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-16T06:17:06Z [Term] id: HP:0012602 name: Renal chloride wasting def: "High urine chloride in the presence of hypochloridemia." [Eurenomics:ewuehl] is_a: HP:0012600 ! Abnormal urine chloride concentration created_by: peter creation_date: 2014-01-16T06:18:11Z [Term] id: HP:0012603 name: Abnormal urine sodium concentration def: "An abnormal concentration of sodium in the urine." [Eurenomics:fschaefer] is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: HP:0040005 "An abnormal concentration of sodium in the `urine` (FMA:12274)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-16T06:19:27Z [Term] id: HP:0012604 name: Hyponatriuria def: "An abnormally decreased sodium concentration in the urine." [Eurenomics:ewuehl] is_a: HP:0012603 ! Abnormal urine sodium concentration created_by: peter creation_date: 2014-01-16T06:22:09Z [Term] id: HP:0012605 name: Hypernatriuria alt_id: HP:0003608 def: "An increased concentration of sodium(1+) in the urine." [Eurenomics:ewuehl] synonym: "Increased urinary sodium" EXACT [] xref: UMLS:C0854101 "Increased urinary sodium" is_a: HP:0012603 ! Abnormal urine sodium concentration property_value: HP:0040005 "An increased concentration of `sodium(1+)` (CHEBI:29101) in the `urine` (FMA:12274)." xsd:string {xref="Eurenomics:ewuehl"} created_by: peter creation_date: 2014-01-16T06:22:44Z [Term] id: HP:0012606 name: Renal sodium wasting def: "An abnormally increased sodium concentration in the urine in the presence of hyponatremia." [Eurenomics:ewuehl] is_a: HP:0012603 ! Abnormal urine sodium concentration created_by: peter creation_date: 2014-01-16T06:23:16Z [Term] id: HP:0012607 name: Abnormal urine magnesium concentration def: "An abnormal concentration of magnesium the urine." [Eurenomics:ewuehl] is_a: HP:0012591 ! Abnormal urinary electrolyte concentration property_value: HP:0040005 "An abnormal concentration of magnesium the `urine` (FMA:12274)." xsd:string {xref="Eurenomics:ewuehl"} created_by: peter creation_date: 2014-01-17T11:37:50Z [Term] id: HP:0012608 name: Hypermagnesiuria def: "An increased concentration of magnesium the urine." [Eurenomics:fschaefer] is_a: HP:0012607 ! Abnormal urine magnesium concentration property_value: HP:0040005 "An increased concentration of magnesium the `urine` (FMA:12274)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-17T11:38:51Z [Term] id: HP:0012609 name: Hypomagnesiuria def: "An decreased concentration of magnesium the urine." [Eurenomics:fschaefer] synonym: "Decreased urine magnesium" EXACT [] is_a: HP:0012607 ! Abnormal urine magnesium concentration property_value: HP:0040005 "An decreased concentration of magnesium the `urine` (FMA:12274)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-17T11:39:31Z [Term] id: HP:0012610 name: Abnormality of urinary uric acid concentration def: "Abnormal concentration of urate in the urine." [HPO:probinson] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "Abnormal concentration of `urate` (CHEBI:46819) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-17T11:56:43Z [Term] id: HP:0012611 name: Increased urinary urate def: "Elevanted concentration of urate in the urine." [HPO:probinson] comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. is_a: HP:0012610 ! Abnormality of urinary uric acid concentration property_value: HP:0040005 "Elevanted concentration of `urate` (CHEBI:46819) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-17T11:57:29Z [Term] id: HP:0012612 name: Abnormal urinary sulfate concentration def: "Abnormal concentration of sulfate in the urine." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis property_value: HP:0040005 "Abnormal concentration of `sulfate` (CHEBI:16189) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-17T11:58:23Z [Term] id: HP:0012613 name: Increased urinary sulfate def: "Elevated concentration of sulfate in the urine." [HPO:probinson] is_a: HP:0012612 ! Abnormal urinary sulfate concentration property_value: HP:0040005 "Elevated concentration of `sulfate` (CHEBI:16189) in the urine." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-17T11:58:51Z [Term] id: HP:0012614 name: Abnormal urine cytology def: "An anomalous finding in the examination of the urine for cells." [Eurenomics:ewuehl] is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: peter creation_date: 2014-01-17T12:01:16Z [Term] id: HP:0012615 name: Cylindruria def: "The presence of renal casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [Eurenomics:ewuehl] is_a: HP:0012614 ! Abnormal urine cytology created_by: peter creation_date: 2014-01-17T12:03:19Z [Term] id: HP:0012616 name: Leukocyte cylindruria def: "Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [Eurenomics:fschaefer] is_a: HP:0012615 ! Cylindruria created_by: peter creation_date: 2014-01-17T12:05:08Z [Term] id: HP:0012617 name: Erythrocyte cylindruria def: "Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine." [Eurenomics:fschaefer] is_a: HP:0012615 ! Cylindruria created_by: peter creation_date: 2014-01-17T12:06:50Z [Term] id: HP:0012618 name: Urachal cyst def: "A cyst located along the allantois canal." [Eurenomics:fschaefer] is_a: HP:0010478 ! Abnormality of the urachus created_by: peter creation_date: 2014-01-17T12:15:15Z [Term] id: HP:0012619 name: Multiple bladder diverticula def: "Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder." [Eurenomics:fschaefer] is_a: HP:0000015 ! Bladder diverticulum property_value: HP:0040005 "Presence of a many `diverticula` (MPATH:68) (sac or pouch) in the `wall of the urinary bladder` (FMA:15902)." xsd:string {xref="Eurenomics:fschaefer"} created_by: peter creation_date: 2014-01-17T12:21:05Z [Term] id: HP:0012620 name: Cloacal abnormality def: "A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate." [HPO:probinson] is_a: HP:0000119 ! Abnormality of the genitourinary system is_a: HP:0010866 ! Abdominal wall defect created_by: peter creation_date: 2014-01-17T12:27:06Z [Term] id: HP:0012621 name: Persistent cloaca def: "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel." [HPO:probinson] is_a: HP:0010866 ! Abdominal wall defect is_a: HP:0012620 ! Cloacal abnormality created_by: peter creation_date: 2014-01-17T12:28:30Z [Term] id: HP:0012622 name: Chronic kidney disease alt_id: HP:0000106 alt_id: HP:0001918 alt_id: HP:0008671 def: "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl] synonym: "Loss of renal function" RELATED [] synonym: "Progressive renal failure" RELATED [] synonym: "Progressive renal insufficiency" RELATED [] synonym: "RENAL FAILURE, PROGRESSIVE" RELATED [HPO:skoehler] synonym: "Renal insufficiency, progressive" RELATED [] xref: UMLS:C0748318 "Progressive renal failure" is_a: HP:0000083 ! Renal insufficiency created_by: peter creation_date: 2014-01-17T01:14:52Z [Term] id: HP:0012623 name: Stage 1 chronic kidney disease def: "A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2)." [Eurenomics:fschaefer] comment: Proteinuria is commonly seen in stage 1 chronic kidney disease. is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:20:48Z [Term] id: HP:0012624 name: Stage 2 chronic kidney disease def: "A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2)." [Eurenomics:fschaefer] is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:22:13Z [Term] id: HP:0012625 name: Stage 3 chronic kidney disease def: "A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2)." [Eurenomics:fschaefer] is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:22:43Z [Term] id: HP:0012626 name: Stage 4 chronic kidney disease def: "A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2)." [Eurenomics:fschaefer] is_a: HP:0012622 ! Chronic kidney disease created_by: peter creation_date: 2014-01-17T01:23:43Z [Term] id: HP:0012627 name: Pseudoexfoliation def: "Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor." [HPO:probinson, pmid:23157966] comment: In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork. is_a: HP:0004328 ! Abnormality of the anterior segment of the eye created_by: peter creation_date: 2014-01-17T10:50:32Z [Term] id: HP:0012628 name: Abnormality of the suspensory ligament of lens def: "An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." [HPO:probinson] synonym: "Ciliary zonule abnormality" EXACT [] is_a: HP:0012374 ! Abnormality of the globe property_value: HP:0040005 "An anomaly of the `suspensory ligament of lens` (FMA:58838), also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-17T10:59:37Z [Term] id: HP:0012629 name: Phacodonesis def: "Tremulousness (trembling) of the lens of the eye." [HPO:probinson] comment: Phacodonesis results from lesions of some or most of the zonular fibres are broken. is_a: HP:0000517 ! Abnormality of the lens created_by: peter creation_date: 2014-01-17T11:03:09Z [Term] id: HP:0012630 name: Abnormality of the trabecular meshwork def: "An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm." [HPO:probinson] is_a: HP:0000593 ! Abnormality of the anterior chamber created_by: peter creation_date: 2014-01-17T11:12:27Z [Term] id: HP:0012631 name: Pigment deposition in the trabecular meshwork def: "Accumulation of abnormal amounts of pigment within the trabecular meshwork." [HPO:probinson] comment: Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork. is_a: HP:0012630 ! Abnormality of the trabecular meshwork created_by: peter creation_date: 2014-01-17T11:15:03Z [Term] id: HP:0012632 name: Abnormal intraocular pressure def: "An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye." [HPO:probinson] xref: MP:0005257 "abnormal intraocular pressure" is_a: HP:0012373 ! Abnormal eye physiology created_by: peter creation_date: 2014-01-17T11:20:17Z [Term] id: HP:0012633 name: Asymmetry of intraocular pressure def: "A difference in the amount of intraocular pressure in the right and left eye." [HPO:probinson] is_a: HP:0012632 ! Abnormal intraocular pressure created_by: peter creation_date: 2014-01-17T11:21:18Z [Term] id: HP:0012634 name: Iris pigment dispersion def: "Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor." [HPO:probinson] comment: These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263. is_a: HP:0008034 ! Abnormal iris pigmentation created_by: peter creation_date: 2014-01-17T11:30:02Z [Term] id: HP:0012635 name: Iris hypoperfusion def: "Reduction in the amount of blood flow to the iris." [HPO:probinson] comment: This feature can be diagnosed by iris angiography. is_a: HP:0007905 ! Abnormal iris vasculature created_by: peter creation_date: 2014-01-17T11:41:07Z [Term] id: HP:0012636 name: Retinal vein occlusion def: "Blockage of the retinal vein." [HPO:probinson] comment: Retinal vein occlusion can lead to edema and ischemia of the retina. is_a: HP:0008046 ! Abnormality of the retinal vasculature created_by: peter creation_date: 2014-01-17T11:43:32Z [Term] id: HP:0012637 name: Renal calcium wasting def: "High urine calcium in the presence of hypocalcemia." [HPO:probinson] is_a: HP:0004363 ! Abnormality of calcium homeostasis is_a: HP:0011280 ! Abnormality of urine calcium concentration created_by: peter creation_date: 2014-01-18T04:46:41Z [Term] id: HP:0012638 name: Abnormality of nervous system physiology def: "A functional anomaly of the nervous system." [HPO:probinson] is_a: HP:0000707 ! Abnormality of the nervous system property_value: HP:0040005 "A functional anomaly of the `nervous system` (FMA:7157)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-19T08:02:46Z [Term] id: HP:0012639 name: Abnormality of nervous system morphology def: "A structural anomaly of the nervous system." [HPO:probinson] is_a: HP:0000707 ! Abnormality of the nervous system property_value: HP:0040005 "A structural anomaly of the `nervous system` (FMA:7157)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-19T08:03:08Z [Term] id: HP:0012640 name: Abnormality of intracranial pressure def: "A deviation from the norm of the intracranial pressure." [HPO:probinson] comment: Intracranial pressure (i.e., the pressure inside the skull) represents the pressue in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF. is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2014-01-19T08:06:51Z [Term] id: HP:0012641 name: Decreased intracranial pressure def: "A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] synonym: "Intracranial hypotension" EXACT [] xref: MeSH:D019585 "Intracranial Hypotension" is_a: HP:0012640 ! Abnormality of intracranial pressure created_by: peter creation_date: 2014-01-19T08:15:01Z [Term] id: HP:0012642 name: Cerebellar agenesis def: "Lack of development of the cerebellum." [HPO:probinson, pmid:20305277] comment: Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature. is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum created_by: peter creation_date: 2014-01-22T08:14:57Z [Term] id: HP:0012643 name: Foveal hypopigmentation def: "Decreased amount of pigmentation in the fovea centralis." [HPO:probinson] is_a: HP:0000493 ! Abnormality of the fovea is_a: HP:0008002 ! Abnormality of macular pigmentation property_value: HP:0040005 "Decreased amount of pigmentation in the `fovea centralis` (FMA:58658)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-01-22T09:25:34Z [Term] id: HP:0012644 name: Increased caudate lactate level def: "An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging." [HPO:probinson, pmid:23810640] is_a: HP:0002339 ! Abnormality of the caudate nucleus created_by: peter creation_date: 2014-01-28T08:19:22Z [Term] id: HP:0012645 name: Enlarged peripheral nerve def: "Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve." [HPO:probinson] comment: This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id). synonym: "ENLARGED PERIPHERAL NERVES" RELATED [HPO:skoehler] is_a: HP:0045010 ! Abnormality of peripheral nerves created_by: peter creation_date: 2014-02-01T12:44:16Z [Term] id: HP:0012646 name: Retractile testis def: "A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex." [HPO:probinson, pmid:23061004, pmid:4380054] synonym: "Retractile testicle" EXACT [] is_a: HP:0000035 ! Abnormality of the testis created_by: peter creation_date: 2014-02-01T12:57:41Z [Term] id: HP:0012647 name: Abnormal inflammatory response def: "Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." [MONARCH:mhaendel] is_a: HP:0010978 ! Abnormality of immune system physiology property_value: HP:0040005 "Any anomaly of the `inflammatory response` (GO:0006954), a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages." xsd:string {xref="MONARCH:mhaendel"} created_by: peter creation_date: 2014-02-01T01:25:42Z [Term] id: HP:0012648 name: Decreased inflammatory response def: "An abnormal reduction in the inflammatory response to injury or infection." [MONARCH:mhaendel] is_a: HP:0012647 ! Abnormal inflammatory response property_value: HP:0040005 "An abnormal reduction in the `inflammatory response` (GO:0006954) to injury or infection." xsd:string {xref="MONARCH:mhaendel"} created_by: peter creation_date: 2014-02-01T01:29:24Z [Term] id: HP:0012649 name: Increased inflammatory response def: "A abnormal increase in the inflammatory response to injury or infection." [MONARCH:mhaendel] is_a: HP:0012647 ! Abnormal inflammatory response property_value: HP:0040005 "A abnormal increase in the `inflammatory response` (GO:0006954) to injury or infection." xsd:string {xref="MONARCH:mhaendel"} created_by: peter creation_date: 2014-02-01T01:29:58Z [Term] id: HP:0012650 name: Perisylvian polymicrogyria def: "An excessive number of small gyri (convolutions) on the surface of the brain in the region surrounding the sylvian fissures." [HPO:probinson, pmid:15159468] is_a: HP:0002126 ! Polymicrogyria created_by: peter creation_date: 2014-02-06T07:47:51Z [Term] id: HP:0012651 name: Abasia def: "Ay severe form of gait ataxia such that an affected person cannot walk at all." [HPO:probinson] is_a: HP:0002066 ! Gait ataxia created_by: peter creation_date: 2014-02-06T07:52:50Z [Term] id: HP:0012652 name: Exercise-induced asthma def: "Asthma attacks following exercise." [HPO:probinson] xref: MeSH:D001250 "Asthma, Exercise-Induced" is_a: HP:0002099 ! Asthma created_by: peter creation_date: 2014-02-12T10:42:14Z [Term] id: HP:0012653 name: Status Asthmaticus def: "Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine." [HPO:probinson, pmid:22794687] synonym: "Acute severe asthma" EXACT [] xref: MeSH:D013224 "Status Asthmaticus" is_a: HP:0002099 ! Asthma created_by: peter creation_date: 2014-02-12T10:43:34Z [Term] id: HP:0012654 name: Abnormal CSF dopamine level def: "Abnormal concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid property_value: HP:0040005 "Abnormal concentration of `dopamine` (CHEBI:18243) in the cerebrospinal fluid (CSF)." xsd:string {xref="Monarch:mhaendel"} created_by: peter creation_date: 2014-02-15T10:35:24Z [Term] id: HP:0012655 name: Elevated CSF dopamine level def: "Increased concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel] is_a: HP:0012654 ! Abnormal CSF dopamine level property_value: HP:0040005 "Increased concentration of `dopamine` (CHEBI:18243) in the cerebrospinal fluid (CSF)." xsd:string {xref="Monarch:mhaendel"} created_by: peter creation_date: 2014-02-15T10:36:53Z [Term] id: HP:0012656 name: Reduced CSF dopamine level def: "Decreased concentration of dopamine in the cerebrospinal fluid (CSF)." [Monarch:mhaendel] is_a: HP:0012654 ! Abnormal CSF dopamine level property_value: HP:0040005 "Decreased concentration of `dopamine` (CHEBI:18243) in the cerebrospinal fluid (CSF)." xsd:string {xref="Monarch:mhaendel"} created_by: peter creation_date: 2014-02-15T10:37:27Z [Term] id: HP:0012657 name: Abnormal brain positron emission tomography def: "A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain." [HPO:probinson] comment: Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639). is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2014-02-15T11:22:18Z [Term] id: HP:0012658 name: Abnormal brain FDG positron emission tomography def: "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [HPO:probinson] is_a: HP:0012657 ! Abnormal brain positron emission tomography created_by: peter creation_date: 2014-02-15T11:29:38Z [Term] id: HP:0012659 name: Prefrontal hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:23585882] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex. is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:33:12Z [Term] id: HP:0012660 name: Thalamic hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan." [HPO:probinson] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus. is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:35:25Z [Term] id: HP:0012661 name: Hypothalamic hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan." [HPO:probinson] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus. is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:37:59Z [Term] id: HP:0012662 name: Parietal hypometabolism in FDG PET def: "Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan." [HPO:probinson, pmid:15073255] comment: Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex. is_a: HP:0012658 ! Abnormal brain FDG positron emission tomography created_by: peter creation_date: 2014-02-15T11:45:41Z [Term] id: HP:0012663 name: Mildly reduced ejection fraction def: "A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a mild reduction is defined as 45-54 percent." [HPO:probinson, pmid:16376782] is_a: HP:0012664 ! Reduced ejection fraction created_by: peter creation_date: 2014-02-15T01:06:28Z [Term] id: HP:0012664 name: Reduced ejection fraction def: "A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle." [HPO:probinson] comment: The normal range is at least 55 percent. is_a: HP:0003116 ! Abnormal echocardiogram created_by: peter creation_date: 2014-02-15T01:03:37Z [Term] id: HP:0012665 name: Moderately reduced ejection fraction def: "A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as 30-44 percent." [HPO:probinson, pmid:16376782] is_a: HP:0012664 ! Reduced ejection fraction created_by: peter creation_date: 2014-02-15T01:08:33Z [Term] id: HP:0012666 name: Severely reduced ejection fraction def: "A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as less than 30 percent." [HPO:probinson, pmid:16376782] is_a: HP:0012664 ! Reduced ejection fraction created_by: peter creation_date: 2014-02-15T01:09:02Z [Term] id: HP:0012667 name: Regional left ventricular wall motion abnormality def: "An abnormal motion of a segment of the left ventricle during the cardiac cycle." [HPO:probinson] comment: This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion. is_a: HP:0003116 ! Abnormal echocardiogram created_by: peter creation_date: 2014-02-15T01:12:48Z [Term] id: HP:0012668 name: Vasovagal syncope def: "Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation." [HPO:probinson, MeSH:D019462] synonym: "Neurocardiogenic syncope" EXACT [] synonym: "Reflex syncope" EXACT [] synonym: "Situational syncope" EXACT [] xref: MeSH:D019462 "Syncope, Vasovagal" is_a: HP:0001279 ! Syncope created_by: peter creation_date: 2014-02-15T01:33:13Z [Term] id: HP:0012669 name: Carotid sinus syncope def: "An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion." [HPO:probinson] comment: Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving). is_a: HP:0001279 ! Syncope created_by: peter creation_date: 2014-02-15T01:39:14Z [Term] id: HP:0012670 name: Orthostatic syncope def: "Syncope following a quick change in position from lying down to standing." [HPO:probinson] is_a: HP:0001279 ! Syncope created_by: peter creation_date: 2014-02-15T01:41:57Z [Term] id: HP:0012671 name: Abulia def: "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency." [HPO:probinson, pmid:16030444, UToronto:HTrang] comment: Abulia is less severe thana kinetic mutism, and more so than apathy. synonym: "Aboulia" EXACT [] is_a: HP:0000745 ! Diminished motivation created_by: peter creation_date: 2014-02-27T10:48:32Z [Term] id: HP:0012672 name: Akinetic mutism def: "Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking." [HPO:probinson] is_a: HP:0000745 ! Diminished motivation created_by: peter creation_date: 2014-02-27T10:50:59Z [Term] id: HP:0012673 name: Aplasia of the upper vagina def: "A failure to develop of the upper vagina." [HPO:probinson] comment: The female reproductive tract primarily develops from the M??llerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia. is_a: HP:0003250 ! Aplasia of the vagina created_by: peter creation_date: 2014-02-27T11:00:26Z [Term] id: HP:0012674 name: Aplasia of the lower vagina def: "A failure to develop of the lower part of the vagina." [HPO:probinson] synonym: "Agenesis of the lower vagina" EXACT [] is_a: HP:0003250 ! Aplasia of the vagina created_by: peter creation_date: 2014-02-27T11:09:14Z [Term] id: HP:0012675 name: Iron accumulation in brain def: "An abnormal build up of iron (Fe) in brain tissue." [HPO:probinson] synonym: "Brain iron deposition" EXACT [] is_a: HP:0012443 ! Abnormality of brain morphology created_by: hecht creation_date: 2014-03-13T07:22:40Z [Term] id: HP:0012676 name: Copper accumulation in brain def: "An anomalous build up of copper (Cu) in the brain." [HPO:probinson] is_a: HP:0010836 ! Abnormality of copper homeostasis is_a: HP:0012443 ! Abnormality of brain morphology property_value: HP:0040005 "An anomalous build up of copper (Cu) in the `brain` (FMA:50801)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-03-13T07:28:03Z [Term] id: HP:0012677 name: Iron accumulation in globus pallidus def: "An abnormal build up of iron (Fe) in the globus pallidus." [HPO:probinson] is_a: HP:0002453 ! Abnormality of the globus pallidus is_a: HP:0012675 ! Iron accumulation in brain property_value: HP:0040005 "An abnormal build up of iron (Fe) in the `globus pallidus` (FMA:61835)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-03-13T07:29:37Z [Term] id: HP:0012678 name: Iron accumulation in substantia nigra def: "An anomalous build up of iron (Fe) in the substantia nigra." [HPO:probinson] is_a: HP:0012675 ! Iron accumulation in brain is_a: HP:0045007 ! Abnormality of the substantia nigra property_value: HP:0040005 "An anomalous build up of iron (Fe) in the `substantia nigra` (FMA:67947)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-03-13T07:29:54Z [Term] id: HP:0012679 name: Widened interpedicular distance def: "An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces." [UToronto:htrang] is_a: HP:0008438 ! Vertebral arch anomaly created_by: peter creation_date: 2014-03-22T12:41:17Z [Term] id: HP:0012680 name: Abnormality of the pineal gland def: "An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin." [HPO:probinson] is_a: HP:0000818 ! Abnormality of the endocrine system property_value: HP:0040005 "An anomaly of the `pineal gland` (FMA:62033),a small endocrine gland in the brain that produces melatonin." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-22T12:46:36Z [Term] id: HP:0012681 name: Abnormality of pineal morphology def: "A structural abnormality of the pineal gland." [UToronto:htrang] comment: The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies. is_a: HP:0012443 ! Abnormality of brain morphology is_a: HP:0012680 ! Abnormality of the pineal gland property_value: HP:0040005 "A structural abnormality of the `pineal gland` (FMA:62033)." xsd:string {xref="UToronto:htrang"} created_by: peter creation_date: 2014-03-22T12:50:21Z [Term] id: HP:0012682 name: Pineal gland calcification def: "Accumulation of calcium salts in the pineal gland." [HPO:probinson] comment: This feature can be appreciated on skull radiography. is_a: HP:0012681 ! Abnormality of pineal morphology property_value: HP:0040005 "Accumulation of calcium salts in the `pineal gland` (FMA:62033)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-22T12:51:57Z [Term] id: HP:0012683 name: Pineal cyst def: "A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland." [HPO:probinson, pmid:21801982] comment: Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging. is_a: HP:0012681 ! Abnormality of pineal morphology created_by: peter creation_date: 2014-03-22T01:01:45Z [Term] id: HP:0012684 name: Abnormal pineal volume def: "An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang] comment: This feature is typically assessed by magnetic resonance tomography of the brain. is_a: HP:0012681 ! Abnormality of pineal morphology created_by: peter creation_date: 2014-03-22T01:08:48Z [Term] id: HP:0012685 name: Decreased pineal volume def: "An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland." [pmid:24456088, UToronto:htrang] is_a: HP:0012684 ! Abnormal pineal volume created_by: peter creation_date: 2014-03-22T01:10:12Z [Term] id: HP:0012686 name: Increased pineal volume def: "An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland." [UToronto:htrang] is_a: HP:0012684 ! Abnormal pineal volume created_by: peter creation_date: 2014-03-22T01:11:33Z [Term] id: HP:0012687 name: Agenesis of pineal gland def: "Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present." [UToronto:htrang] is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0012681 ! Abnormality of pineal morphology created_by: peter creation_date: 2014-03-22T01:13:13Z [Term] id: HP:0012688 name: Abnormality of pineal physiology def: "A functional abnormality of the pineal gland." [UToronto:htrang] is_a: HP:0012638 ! Abnormality of nervous system physiology is_a: HP:0012680 ! Abnormality of the pineal gland property_value: HP:0040005 "A functional abnormality of the `pineal gland` (FMA:62033)." xsd:string {xref="UToronto:htrang"} created_by: peter creation_date: 2014-03-22T01:15:36Z [Term] id: HP:0012689 name: Abnormal pineal melatonin secretion def: "An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland." [pmid:22724080, UToronto:htrang] comment: The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2. is_a: HP:0012688 ! Abnormality of pineal physiology created_by: peter creation_date: 2014-03-22T01:16:40Z [Term] id: HP:0012690 name: T2 hypointense thalamus def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus." [HPO:probinson] is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity created_by: peter creation_date: 2014-03-22T04:32:50Z [Term] id: HP:0012691 name: Focal T2 hypointense thalamic lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus." [HPO:probinson] is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity created_by: peter creation_date: 2014-03-22T04:52:32Z [Term] id: HP:0012692 name: Focal T2 hyperintense thalamic lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus." [HPO:probinson] comment: The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis. is_a: HP:0012696 ! Abnormal thalamic MRI signal intensity created_by: peter creation_date: 2014-03-22T04:54:03Z [Term] id: HP:0012693 name: Abnormal thalamic size def: "Deviation from the normal range of size of the thalamus." [UToronto:htrang] is_a: HP:0010663 ! Abnormality of thalamus morphology property_value: HP:0040005 "Deviation from the normal range of size of the `thalamus` (FMA:62007)." xsd:string {xref="UToronto:htrang"} created_by: peter creation_date: 2014-03-22T05:45:51Z [Term] id: HP:0012694 name: Enlarged thalamic volume def: "An increase in the quantity of space occupied by the thalamus." [UToronto:htrang] is_a: HP:0012693 ! Abnormal thalamic size property_value: HP:0040005 "An increase in the quantity of space occupied by the `thalamus` (FMA:62007)." xsd:string {xref="UToronto:htrang"} created_by: peter creation_date: 2014-03-22T05:47:14Z [Term] id: HP:0012695 name: Decreased thalamic volume def: "A reduction in the quantity of space occupied by the thalamus." [UToronto:htrang] is_a: HP:0012693 ! Abnormal thalamic size property_value: HP:0040005 "A reduction in the quantity of space occupied by the `thalamus` (FMA:62007)." xsd:string {xref="UToronto:htrang"} created_by: peter creation_date: 2014-03-22T05:48:28Z [Term] id: HP:0012696 name: Abnormal thalamic MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus." [HPO:probinson] is_a: HP:0010663 ! Abnormality of thalamus morphology created_by: peter creation_date: 2014-03-22T05:49:08Z [Term] id: HP:0012697 name: Small basal ganglia def: "Decreased size of the basal ganglia." [HPO:probinson] xref: UMLS:C1859470 "Large basal ganglia" is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: HP:0040005 "Decreased size of the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-22T06:01:22Z [Term] id: HP:0012698 name: Cerebellar gliosis def: "The presence of gliosis in the cerebellum." [UToronto:htrang] is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0002171 ! Gliosis property_value: HP:0040005 "The presence of `gliosis` (MPATH:182) in the `cerebellum` (FMA:67944)." xsd:string {xref="UToronto:htrang"} created_by: peter creation_date: 2014-03-22T06:03:03Z [Term] id: HP:0012699 name: Anomaly of lower limb diaphyses def: "A structural abnormality of a diaphysis of the leg." [UToronto:htrang] is_a: HP:0006504 ! Anomaly of the limb diaphyses created_by: peter creation_date: 2014-03-22T06:14:15Z [Term] id: HP:0012700 name: Abnormal large intestine physiology def: "A functional anomaly of the large intestine." [HPO:probinson] is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2014-03-22T06:20:38Z [Term] id: HP:0012701 name: Bowel urgency def: "A sudden, irresistible need to have a bowel movement." [UToronto:htrang] synonym: "Fecal urgency" EXACT [] is_a: HP:0012700 ! Abnormal large intestine physiology created_by: peter creation_date: 2014-03-22T06:22:14Z [Term] id: HP:0012702 name: Tenesmus def: "A repeated, painful urge to defecate without excreting stool." [HPO:probinson] is_a: HP:0012700 ! Abnormal large intestine physiology created_by: peter creation_date: 2014-03-22T06:23:05Z [Term] id: HP:0012703 name: Abnormality of the subarachnoid space def: "Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid." [UToronto:htrang] is_a: HP:0002011 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2014-03-22T07:45:24Z [Term] id: HP:0012704 name: Widened subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater." [HPO:probinson] synonym: "Enlarged subarachnoid space" EXACT [] synonym: "WIDENED SUBARACHNOID SPACES" RELATED [HPO:skoehler] is_a: HP:0012703 ! Abnormality of the subarachnoid space created_by: peter creation_date: 2014-03-22T07:59:21Z [Term] id: HP:0012705 name: Abnormal metabolic brain imaging by MRS def: "An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS)." [HPO:probinson] comment: MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine. is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2014-03-22T08:04:18Z [Term] id: HP:0012706 name: Elevated brain choline level by MRS def: "An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue. is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS created_by: peter creation_date: 2014-03-22T08:06:29Z [Term] id: HP:0012707 name: Elevated brain lactate level by MRS def: "An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumours. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid. is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS created_by: peter creation_date: 2014-03-22T08:08:20Z [Term] id: HP:0012708 name: Reduced brain N-acetyl aspartate level by MRS def: "A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra. is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS created_by: peter creation_date: 2014-03-22T08:09:12Z [Term] id: HP:0012709 name: Abnormal brain choline/creatine ratio by MRS def: "A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS)." [UToronto:htrang] comment: Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization. is_a: HP:0012705 ! Abnormal metabolic brain imaging by MRS created_by: peter creation_date: 2014-03-22T08:12:15Z [Term] id: HP:0012710 name: Ingrown nail def: "Excessive growth of a nail laterally into the nail fold." [HPO:probinson] xref: MeSH:D009263 "Nails, Ingrown" is_a: HP:0001597 ! Abnormality of the nail created_by: peter creation_date: 2014-03-23T12:09:47Z [Term] id: HP:0012711 name: Delayed ossification of vertebral epiphysis def: "A delay in the process of formation and maturation of the epiphysis of one or more vertebrae." [HPO:probinson] is_a: HP:0100569 ! Abnormal vertebral ossification created_by: peter creation_date: 2014-03-23T12:27:51Z [Term] id: HP:0012712 name: Mild hearing impairment def: "The presence of a mild form of hearing impairment." [HPO:probinson] is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "The presence of a `mild` (PATO:0000394) form of `hearing impairment` (HP:0000365)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T12:33:46Z [Term] id: HP:0012713 name: Moderate hearing impairment def: "The presence of a moderate form of hearing impairment." [HPO:probinson] is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "The presence of a `moderate` (PATO:0000395) form of `hearing impairment` (HP:0000365)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T12:35:59Z [Term] id: HP:0012714 name: Severe hearing impairment def: "A severe form of hearing impairment." [HPO:probinson] is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "A `severe` (PATO:0000396) form of `hearing impairment` (HP:0000365)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T12:37:33Z [Term] id: HP:0012715 name: Profound hearing impairment def: "A profound (essentially complete) form of hearing impairment." [HPO:probinson] is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "A profound (essentially complete) form of `hearing impairment` (HP:0000365)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T12:38:39Z [Term] id: HP:0012716 name: Moderate conductive hearing impairment def: "The presence of a moderate form of conductive hearing impairment." [HPO:probinson] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, moderate" EXACT [] is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment is_a: HP:0012713 ! Moderate hearing impairment property_value: HP:0040005 "The presence of a `moderate` (PATO:0000395) form of `conductive hearing impairment` (HP:0000405)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T12:40:05Z [Term] id: HP:0012717 name: Severe conductive hearing impairment def: "A severe form of conductive hearing impairment." [HPO:probinson] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, severe" EXACT [] is_a: HP:0000405 ! Conductive hearing impairment is_a: HP:0012712 ! Mild hearing impairment is_a: HP:0012714 ! Severe hearing impairment property_value: HP:0040005 "A `severe` (PATO:0000396) form of `conductive hearing impairment` (HP:0000405)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T12:40:51Z [Term] id: HP:0012718 name: Morphological abnormality of the gastrointestinal tract def: "Abnormal structure of the gastrointestinal tract." [HPO:probinson] synonym: "Morphological anomaly of the digestive system" EXACT [] is_a: HP:0011024 ! Abnormality of the gastrointestinal tract created_by: peter creation_date: 2014-03-23T01:09:02Z [Term] id: HP:0012719 name: Functional abnormality of the gastrointestinal tract def: "Abnormal functionality of the gastrointestinal tract." [HPO:probinson] is_a: HP:0011024 ! Abnormality of the gastrointestinal tract property_value: HP:0040005 "`Abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the gastrointestinal tract." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T01:10:47Z [Term] id: HP:0012720 name: Neoplasm of the nose alt_id: HP:0100637 def: "Cancer of the nasal cavity." [HPO:probinson] synonym: "Nasal neoplasm" EXACT [] synonym: "Neoplasia of the nose" EXACT [] synonym: "Nose cancer" EXACT [] xref: MeSH:D009669 "Nose Neoplasms" is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0100630 ! Neoplasia of the nasopharynx created_by: peter creation_date: 2014-03-23T01:16:06Z [Term] id: HP:0012721 name: Venous malformation def: "A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region." [HPO:probinson] comment: Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk. synonym: "VENOUS MALFORMATIONS" EXACT [HPO:skoehler] is_a: HP:0002624 ! Venous abnormality created_by: peter creation_date: 2014-03-23T01:20:33Z [Term] id: HP:0012722 name: Heart block def: "Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway." [HPO:probinson] xref: MeSH:D006327 "Heart Block" xref: UMLS:C0018794 "Heart Block" is_a: HP:0011675 ! Arrhythmia created_by: peter creation_date: 2014-03-23T01:32:14Z [Term] id: HP:0012723 name: Sinoatrial block def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria." [HPO:probinson] comment: Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography. xref: MeSH:D012848 "Sinoatrial Block" is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin is_a: HP:0012722 ! Heart block created_by: peter creation_date: 2014-03-23T01:34:01Z [Term] id: HP:0012724 name: Upper eyelid edema def: "Edema in the region of the upper eyelid." [HPO:probinson] synonym: "Fullness of upper eyelid" EXACT [] synonym: "Swelling of upper eyelid" EXACT [] is_a: HP:0100540 ! Palpebral edema created_by: peter creation_date: 2014-03-23T01:38:57Z [Term] id: HP:0012725 name: Cutaneous syndactyly def: "A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits." [HPO:probinson] synonym: "Cutaneous syndactyly of digits" EXACT [] synonym: "Syndactyly, cutaneous" EXACT [] is_a: HP:0001159 ! Syndactyly created_by: peter creation_date: 2014-03-23T01:40:45Z [Term] id: HP:0012726 name: Episodic hypokalemia def: "An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes." [HPO:probinson] is_a: HP:0002900 ! Hypokalemia property_value: HP:0040005 "An abnormally decreased `potassium` (CHEBI:29103) concentration in the blood occurring periodically with a return to normal between the episodes." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T02:08:24Z [Term] id: HP:0012727 name: Thoracic aortic aneurysm def: "A bulging, weakened area in the wall of the thoracic aorta." [HPO:probinson] is_a: HP:0004942 ! Aortic aneurysm is_a: HP:0005112 ! Dilatation of the abdominal aorta created_by: peter creation_date: 2014-03-23T02:22:20Z [Term] id: HP:0012728 name: Fusiform descending thoracic aortic aneurysm def: "A type of descending thoracic aortic aneurysm that bulges or balloons out on all sides of the aorta." [HPO:probinson] is_a: HP:0004954 ! Descending aortic aneurysm created_by: peter creation_date: 2014-03-23T02:26:12Z [Term] id: HP:0012729 name: Saccular descending thoracic aortic aneurysm def: "A type of descending thoracic aortic aneurysm that bulges or balloons out on only one side of the aorta." [HPO:probinson] is_a: HP:0004954 ! Descending aortic aneurysm created_by: peter creation_date: 2014-03-23T02:27:11Z [Term] id: HP:0012730 name: Aglossia def: "Absence of the tongue owing to a developmental abnormality." [HPO:probinson] synonym: "Absence of tongue" EXACT [] is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue created_by: peter creation_date: 2014-03-23T02:30:53Z [Term] id: HP:0012731 name: Ectopic anterior pituitary gland alt_id: HP:0011765 def: "Abnormal anatomic location of the anterior pituitary gland." [HPO:probinson] is_a: HP:0011747 ! Abnormality of the anterior pituitary created_by: peter creation_date: 2014-03-23T02:41:41Z [Term] id: HP:0012732 name: Anorectal anomaly def: "An abnormality of the anus or rectum." [HPO:probinson] xref: MeSH:C567938 "Anorectal Anomalies" is_a: HP:0012718 ! Morphological abnormality of the gastrointestinal tract created_by: peter creation_date: 2014-03-23T02:48:00Z [Term] id: HP:0012733 name: Macule def: "A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin." [HPO:probinson] is_a: HP:0011355 ! Localized skin lesion created_by: peter creation_date: 2014-03-23T02:54:25Z [Term] id: HP:0012734 name: Ketotic hypoglycemia def: "Low blood glucose is accompanied by elevated levels of ketone bodies in the body." [HPO:probinson] is_a: HP:0001943 ! Hypoglycemia created_by: peter creation_date: 2014-03-23T03:00:50Z [Term] id: HP:0012735 name: Cough def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson] synonym: "Coughing" EXACT [] xref: MeSH:D003371 "Cough" is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2014-03-23T03:19:50Z [Term] id: HP:0012736 name: Profound global developmental delay def: "A profound delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] synonym: "PSYCHOMOTOR RETARDATION, PROFOUND" RELATED [HPO:skoehler] is_a: HP:0001263 ! Global developmental delay created_by: peter creation_date: 2014-03-23T03:21:25Z [Term] id: HP:0012737 name: Small intestinal polyp def: "A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base." [HPO:probinson] is_a: HP:0005266 ! Intestinal polyp is_a: HP:0100833 ! Neoplasm of the small intestine created_by: peter creation_date: 2014-03-23T03:50:25Z [Term] id: HP:0012738 name: Agenesis of canine def: "Agenesis of canine tooth." [HPO:probinson] synonym: "Absent canines" EXACT [] is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011078 ! Abnormality of canine property_value: HP:0040005 "`Agenesis` (MPATH:57) of `canine tooth` (FMA:55636)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-03-23T04:26:04Z [Term] id: HP:0012739 name: Agenesis of the small intestine def: "Failure to develop of the small intestine." [HPO:probinson] synonym: "Small bowel agenesis" EXACT [] is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2014-03-23T04:28:53Z [Term] id: HP:0012740 name: Papilloma def: "A tumor of the skin or mucous membrane with finger-like projections." [HPO:probinson] comment: The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts. is_a: HP:0008069 ! Neoplasm of the skin created_by: peter creation_date: 2014-03-23T04:36:41Z [Term] id: HP:0012741 name: Unilateral cryptorchidism def: "Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:probinson] synonym: "Cryptorchidism, unilateral" EXACT [] is_a: HP:0000028 ! Cryptorchidism created_by: peter creation_date: 2014-03-23T04:41:57Z [Term] id: HP:0012742 name: Thin fingernail alt_id: HP:0040037 def: "Nail that appears thin when viewed on end." [HPO:probinson, pmid:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0001816 ! Thin nail created_by: peter creation_date: 2014-03-23T04:47:40Z [Term] id: HP:0012743 name: Abdominal obesity def: "Excessive fat around the stomach and abdomen." [HPO:probinson] synonym: "Central obesity" EXACT [HPO:skoehler] is_a: HP:0001513 ! Obesity created_by: peter creation_date: 2014-03-23T05:00:05Z [Term] id: HP:0012744 name: Femoral aplasia def: "Failure of the femur to develop." [HPO:probinson] synonym: "Absent femur" EXACT [] is_a: HP:0005613 ! Aplasia/hypoplasia of the femur created_by: peter creation_date: 2014-03-23T05:14:34Z [Term] id: HP:0012745 name: Short palpebral fissure def: "Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures." [pmid:19125427] subset: hposlim_core synonym: "Short palpebral fissures" EXACT [HPO:skoehler] is_a: HP:0200007 ! Abnormal size of the palpebral fissures created_by: peter creation_date: 2014-03-23T05:27:40Z [Term] id: HP:0012746 name: Thin toenail alt_id: HP:0040038 def: "Toenail that appears thin when viewed on end." [HPO:probinson, pmid:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified. synonym: "THIN TOENAILS" RELATED [HPO:skoehler] is_a: HP:0001816 ! Thin nail is_a: HP:0008388 ! Abnormality of the toenails created_by: peter creation_date: 2014-03-23T05:34:43Z [Term] id: HP:0012747 name: Abnormal brainstem MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MIR) of the brainstem." [UToronto:htrang] is_a: HP:0002363 ! Abnormality of brainstem morphology created_by: peter creation_date: 2014-03-30T06:41:13Z [Term] id: HP:0012748 name: Focal T2 hyperintense brainstem lesion def: "A lighter than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem." [UToronto:htrang] is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity created_by: peter creation_date: 2014-03-30T06:43:06Z [Term] id: HP:0012749 name: Focal T2 hypointense brainstem lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem." [UToronto:htrang] is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity created_by: peter creation_date: 2014-03-30T06:43:56Z [Term] id: HP:0012750 name: T2 hypointense brainstem def: "A darker than expected T2 signal on magnetic resonance imaging (MIR) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem." [UToronto:htrang] is_a: HP:0012747 ! Abnormal brainstem MRI signal intensity created_by: peter creation_date: 2014-03-30T06:44:29Z [Term] id: HP:0012751 name: Abnormal basal ganglia MRI signal intensity def: "A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia." [UToronto:htrang] is_a: HP:0002134 ! Abnormality of the basal ganglia created_by: peter creation_date: 2014-03-30T06:47:28Z [Term] id: HP:0012752 name: Focal T2 hypointense basal ganglia lesion def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia." [HPO:probinson] is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity created_by: peter creation_date: 2014-03-30T06:52:14Z [Term] id: HP:0012753 name: T2 hypointense basal ganglia def: "A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia." [HPO:probinson] is_a: HP:0012751 ! Abnormal basal ganglia MRI signal intensity created_by: peter creation_date: 2014-03-30T06:52:42Z [Term] id: HP:0012754 name: CNS hypermyelination def: "Increased amount of myelin in the central nervous system." [UToronto:htrang] is_a: HP:0011400 ! Abnormal CNS myelination created_by: peter creation_date: 2014-03-30T07:15:56Z [Term] id: HP:0012755 name: Enlarged brainstem def: "Abnormal increase in size of the brainstem." [UToronto:htrang] comment: An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process. is_a: HP:0002363 ! Abnormality of brainstem morphology created_by: peter creation_date: 2014-03-30T07:23:06Z [Term] id: HP:0012756 name: CSF polymorphonuclear pleocytosis def: "An increased polymorphonuclear cell count in the cerebrospinal fluid." [KI:phemming] is_a: HP:0012229 ! CSF pleocytosis created_by: peter creation_date: 2014-04-02T01:07:51Z [Term] id: HP:0012757 name: Abnormal neuron morphology def: "A structural anomaly of a neuron." [KI:phemming] is_a: HP:0012639 ! Abnormality of nervous system morphology created_by: peter creation_date: 2014-04-02T05:12:30Z [Term] id: HP:0012758 name: Neurodevelopmental delay is_a: HP:0012759 ! Neurodevelopmental abnormality created_by: peter creation_date: 2014-04-03T12:16:19Z [Term] id: HP:0012759 name: Neurodevelopmental abnormality def: "A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities." [KI:phemming] comment: This term should be used to describe abnormalities with onset in the developmental period. is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: peter creation_date: 2014-04-03T12:20:28Z [Term] id: HP:0012760 name: Impaired social reciprocity def: "A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first." [KI:phemming] is_a: HP:0012433 ! Abnormal social behavior created_by: peter creation_date: 2014-04-03T12:52:44Z [Term] id: HP:0012761 name: Absent mastoid alt_id: HP:0200110 def: "A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent." [HPO:probinson] synonym: "Absent mastoids" EXACT [] is_a: HP:0000264 ! Abnormality of the mastoid property_value: HP:0040005 "A developmental anomaly in which the `mastoid process` (FMA:52872) fails to form and is thus found to be congenitally absent." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-04-03T01:06:18Z [Term] id: HP:0012762 name: Cerebral white matter atrophy def: "The presence of atrophy (wasting) of the cerebral white matter." [UToronto:htrang] is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: hecht creation_date: 2014-04-06T10:55:36Z [Term] id: HP:0012763 name: Paroxysmal dyspnea def: "A sudden attack of dyspnea that occurs while the affected person is at rest." [HPO:probinson] comment: Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position. xref: MeSH:D004418 "Dyspnea, Paroxysmal" is_a: HP:0002094 ! Dyspnea created_by: hecht creation_date: 2014-04-06T10:58:39Z [Term] id: HP:0012764 name: Orthopnea def: "A sensation of breathlessness in the recumbent position, relieved by sitting or standing." [UToronto:htrang] is_a: HP:0002094 ! Dyspnea created_by: hecht creation_date: 2014-04-06T11:03:04Z [Term] id: HP:0012765 name: Widened cerebellar subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum." [UToronto:htrang] is_a: HP:0012704 ! Widened subarachnoid space created_by: hecht creation_date: 2014-04-06T11:06:46Z [Term] id: HP:0012766 name: Widened cerebral subarachnoid space def: "An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum." [UToronto:htrang] is_a: HP:0012704 ! Widened subarachnoid space created_by: hecht creation_date: 2014-04-06T11:08:12Z [Term] id: HP:0012767 name: Abnormal placental size def: "A deviation from normal size of the placenta." [HPO:probinson] is_a: HP:0100767 ! Abnormality of the placenta created_by: peter creation_date: 2014-04-07T12:11:29Z [Term] id: HP:0012768 name: Neonatal asphyxia def: "Respiratory failure in the newborn." [HPO:probinson] synonym: "Asphyxia neonatorum" EXACT [] xref: MeSH:D001238 "Asphyxia Neonatorum" is_a: HP:0002643 ! Neonatal respiratory distress created_by: peter creation_date: 2014-04-07T12:39:08Z [Term] id: HP:0012769 name: Abnormal arm span def: "A deviation from normal of the length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle." [HPO:probinson] is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2014-04-07T03:09:08Z [Term] id: HP:0012770 name: Reduced arm span def: "Decreased length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle." [HPO:probinson] is_a: HP:0012769 ! Abnormal arm span created_by: peter creation_date: 2014-04-07T03:09:58Z [Term] id: HP:0012771 name: Increased arm span def: "Decreased length of the arm span (length from one end of an individual's arms (measured at the fingertips) to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle." [HPO:probinson] is_a: HP:0012769 ! Abnormal arm span created_by: peter creation_date: 2014-04-07T03:10:35Z [Term] id: HP:0012772 name: Abnormal upper to lower segment ratio def: "A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] is_a: HP:0000002 ! Abnormality of body height created_by: peter creation_date: 2014-04-07T03:12:56Z [Term] id: HP:0012773 name: Reduced upper to lower segment ratio def: "Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] comment: A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced. is_a: HP:0012772 ! Abnormal upper to lower segment ratio created_by: peter creation_date: 2014-04-07T03:14:28Z [Term] id: HP:0012774 name: Increased upper to lower segment ratio def: "Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis." [HPO:probinson] is_a: HP:0012772 ! Abnormal upper to lower segment ratio created_by: peter creation_date: 2014-04-07T03:16:21Z [Term] id: HP:0012775 name: Stellate iris def: "A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel." [CINEAS:asollie] is_a: HP:0008034 ! Abnormal iris pigmentation created_by: peter creation_date: 2014-04-07T03:54:41Z [Term] id: HP:0012776 name: Abnormality of the ciliary body def: "A structural anomaly of the ciliary body (FMA:58295)." [CINEAS:asollie] is_a: HP:0000553 ! Abnormality of the uvea created_by: peter creation_date: 2014-04-07T04:00:10Z [Term] id: HP:0012777 name: Retinal neoplasm def: "A tumor (abnormal growth of tissue) of the retina." [CINEAS:asollie] is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0100012 ! Neoplasm of the eye property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the retina." xsd:string {xref="CINEAS:asollie"} created_by: peter creation_date: 2014-04-07T05:38:24Z [Term] id: HP:0012778 name: Retinal astrocytic hamartoma def: "A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte." [pmid:20435268, pmid:23436975] comment: Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation. is_a: HP:0012777 ! Retinal neoplasm created_by: peter creation_date: 2014-04-07T05:38:54Z [Term] id: HP:0012779 name: Transient hearing impairment def: "Hearing loss that occurs acutely and resolves completely." [pmid:21776317] comment: Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear. is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2014-04-07T06:09:19Z [Term] id: HP:0012780 name: Neoplasm of the ear def: "A tumor (abnormal growth of tissue) of the ear." [HPO:probinson] is_a: HP:0000598 ! Abnormality of the ear is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A neoplasm` (MPATH:218) of the ear." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-04-07T06:11:56Z [Term] id: HP:0012781 name: Mid-frequency hearing loss def: "A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)." [HPO:probinson] is_a: HP:0000365 ! Hearing impairment property_value: HP:0040005 "A type of `hearing impairment` (HP:0000365) affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-04-08T11:04:07Z [Term] id: HP:0012782 name: Perilobar nephrogenic rest def: "A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe." [HPO:probinson, pmid:20301471] comment: Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia. is_a: HP:0100880 ! Nephrogenic rest created_by: peter creation_date: 2014-04-20T03:23:16Z [Term] id: HP:0012783 name: Intralobar nephrogenic rest def: "A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls." [HPO:probinson, pmid:20301471] comment: Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS). is_a: HP:0100880 ! Nephrogenic rest created_by: peter creation_date: 2014-04-20T03:24:35Z [Term] id: HP:0012784 name: Perinephritis def: "Inflammation of the connective and adipose tissues surrounding the kidney." [HPO:probinson] xref: MeSH:D010501 "Perinephritis" is_a: HP:0000123 ! Nephritis created_by: peter creation_date: 2014-04-20T03:32:07Z [Term] id: HP:0012785 name: Flexion contracture of finger def: "Chronic loss of joint motion in a finger due to structural changes in non-bony tissue." [HPO:probinson] comment: Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general. is_a: HP:0009473 ! Joint contracture of the hand is_a: HP:0030044 ! Flexion contracture of digit created_by: peter creation_date: 2014-04-20T04:09:34Z [Term] id: HP:0012786 name: Recurrent cystitis def: "Repeated infections of the urinary bladder." [HPO:probinson, pmid:20639019] comment: One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months. is_a: HP:0000010 ! Recurrent urinary tract infections created_by: peter creation_date: 2014-04-22T09:18:06Z [Term] id: HP:0012787 name: Recurrent pyelonephritis def: "Repeated episodes of pyelonephritis." [HPO:probinson] is_a: HP:0000010 ! Recurrent urinary tract infections is_a: HP:0012330 ! Pyelonephritis created_by: peter creation_date: 2014-04-22T09:24:10Z [Term] id: HP:0012788 name: Reticulate pigmentation of oral mucosa def: "A net-like pattern of increased pigmentation of the oral cavity." [HPO:probinson] is_a: HP:0100669 ! Abnormal pigmentation of the oral mucosa created_by: peter creation_date: 2014-04-22T09:31:07Z [Term] id: HP:0012789 name: Hypoplasia of the calcaneus def: "Underdevelopment of the heel bone." [HPO:probinson] synonym: "Hypoplastic calcaneus" EXACT [] is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones is_a: HP:0008364 ! Abnormality of the calcaneus created_by: peter creation_date: 2014-04-22T09:58:48Z [Term] id: HP:0012790 name: Abnormal intramembranous ossification def: "An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, perietal, occipital, and temporal bones, and the clavicles) are formed." [HPO:probinson] synonym: "Abnormal intramembranous bone ossification" EXACT [] is_a: HP:0011849 ! Abnormal bone ossification created_by: peter creation_date: 2014-04-24T10:18:31Z [Term] id: HP:0012791 name: Abnormal humeral ossification def: "An anomaly of the process of formation of bone in the humerus." [HPO:probinson] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003336 ! Abnormal enchondral ossification created_by: peter creation_date: 2014-04-24T10:23:43Z [Term] id: HP:0012792 name: Absent ossification of thoracic vertebral bodies def: "A lack of bone mineralization of one or more body of thoracic vertebra." [HPO:probinson] is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies property_value: HP:0040005 "A lack of `bone mineralization` (GO:0030282) of one or more `body of thoracic vertebra` (FMA:9141)." xsd:string {xref="HPO:probinson"} created_by: peter creation_date: 2014-04-24T11:05:14Z [Term] id: HP:0012793 name: Kinked brainstem def: "A kinked appearance of the brainstem, i.e., an exaggerated flexure." [HPO:probinson, pmid:16301726] comment: Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging. synonym: "Kinked brain stem" EXACT [] is_a: HP:0002363 ! Abnormality of brainstem morphology created_by: peter creation_date: 2014-04-25T02:51:49Z [Term] id: HP:0012794 name: Periventricular white matter hypodensities def: "Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles." [HPO:probinson, pmid:16239634] is_a: HP:0007103 ! Hypointensity of cerebral white matter on MRI created_by: peter creation_date: 2014-04-25T03:00:01Z [Term] id: HP:0012795 name: Abnormality of the optic disc def: "A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination." [HPO:probinson] comment: The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. is_a: HP:0000587 ! Abnormality of the optic nerve created_by: peter creation_date: 2014-05-24T04:37:10Z [Term] id: HP:0012796 name: Increased cup-to-disc ratio def: "An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefoy may indicate a decrease in the quantity of healthy neuroretinal cells." [HPO:probinson, pmid:23557744] comment: A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified. synonym: "Elevated cup to disc ratio" EXACT [] synonym: "Increased cup disc ratio" EXACT [] is_a: HP:0012795 ! Abnormality of the optic disc created_by: peter creation_date: 2014-05-24T04:43:52Z [Term] id: HP:0012797 name: Lymphatic vessel neoplasm is_a: HP:0100742 ! Vascular neoplasm is_a: HP:0100766 ! Abnormality of the lymphatic vessels created_by: peter creation_date: 2014-05-24T05:00:34Z [Term] id: HP:0012798 name: Pulmonary lymphangiomyomatosis def: "Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls." [HPO:probinson] comment: Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis. synonym: "Lymphangioleiomyomatosis" RELATED [] synonym: "Pulmonary myomatosis" EXACT [] xref: MeSH:D018192 "Lymphangioleiomyomatosis" is_a: HP:0012797 ! Lymphatic vessel neoplasm is_a: HP:0100526 ! Neoplasm of the lung created_by: peter creation_date: 2014-05-24T05:00:46Z [Term] id: HP:0012799 name: Unilateral facial palsy def: "One-sided weakness of the muscles of facial expression and eye closure." [HPO:probinson] is_a: HP:0010628 ! Facial palsy created_by: hecht creation_date: 2014-05-25T10:35:53Z [Term] id: HP:0012800 name: Accessory cranial suture def: "A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant." [HPO:probinson, pmid:20496093] comment: The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures. synonym: "Extra cranial suture" EXACT [] is_a: HP:0011329 ! Abnormality of cranial sutures created_by: hecht creation_date: 2014-05-25T10:54:52Z [Term] id: HP:0012801 name: Narrow jaw def: "Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436] comment: The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. synonym: "Narrow lower face" EXACT [] synonym: "Narrow mandible" EXACT [] is_a: HP:0000277 ! Abnormality of the mandible created_by: hecht creation_date: 2014-05-25T02:37:13Z [Term] id: HP:0012802 name: Broad jaw def: "Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective)." [HPO:probinson, pmid:19125436] comment: The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used. synonym: "Broad lower face" EXACT [] synonym: "Broad mandible" EXACT [] synonym: "Wide jaw" EXACT [] synonym: "Wide mandible" EXACT [] is_a: HP:0000277 ! Abnormality of the mandible created_by: hecht creation_date: 2014-05-25T02:41:43Z [Term] id: HP:0012803 name: Anisometropia def: "Inequality of refractive power of the two eyes." [HPO:probinson] xref: MeSH:D015858 "Anisometropia" is_a: HP:0000539 ! Abnormality of refraction created_by: hecht creation_date: 2014-05-25T03:05:21Z [Term] id: HP:0012804 name: Corneal ulceration def: "Disruption of the epithelial layer of the cornea with involvement of the underlying stroma." [HPO:probinson] synonym: "Corneal ulcer" EXACT [] is_a: HP:0011495 ! Abnormality of corneal epithelium created_by: hecht creation_date: 2014-05-25T03:25:51Z [Term] id: HP:0012805 name: Iris transillumination defect def: "Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris." [HPO:probinson, pmid:19920562] comment: Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped. is_a: HP:0008034 ! Abnormal iris pigmentation created_by: hecht creation_date: 2014-05-25T03:43:06Z [Term] id: HP:0012806 name: Proboscis def: "A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline." [HPO:probinson, pmid:19152422] comment: A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares. is_a: HP:0005105 ! Abnormal nasal morphology created_by: hecht creation_date: 2014-05-25T05:46:42Z [Term] id: HP:0012807 name: High insertion of columella def: "Insertion of the posterior columella superior to the nasal base." [pmid:19152422] comment: This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side. subset: hposlim_core synonym: "Columella, high insertion" EXACT [] is_a: HP:0009929 ! Abnormality of the columella created_by: hecht creation_date: 2014-05-25T05:51:17Z [Term] id: HP:0012808 name: Abnormal nasal base def: "An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] is_a: HP:0000366 ! Abnormality of the nose created_by: hecht creation_date: 2014-05-25T05:56:47Z [Term] id: HP:0012809 name: Narrow nasal base def: "Decreased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. is_a: HP:0012808 ! Abnormal nasal base created_by: hecht creation_date: 2014-05-25T05:58:16Z [Term] id: HP:0012810 name: Wide nasal base def: "Increased distance between the attachments of the alae nasi to the face." [HPO:probinson, pmid:19152422] comment: There is a marked difference in width of the nasal base depending on ethnic background. synonym: "Broad nasal base" EXACT [] is_a: HP:0012808 ! Abnormal nasal base created_by: hecht creation_date: 2014-05-25T05:59:12Z [Term] id: HP:0012811 name: Wide nasal ridge def: "Increased width of the nasal ridge." [HPO:probinson, pmid:19152422] comment: This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose. synonym: "Broad nasal ridge" RELATED [] xref: UMLS:C1837761 "Pinched nose" is_a: HP:0011119 ! Abnormality of the nasal dorsum created_by: hecht creation_date: 2014-05-25T10:38:03Z [Term] id: HP:0012812 name: Fullness of paranasal tissue def: "Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues." [HPO:probinson, pmid:19152422] comment: This feature is distinct from Wide nasal ridge and Wide nasal bridge. synonym: "Laterally built up nose" EXACT [] synonym: "Paranasal fullness" EXACT [] is_a: HP:0005105 ! Abnormal nasal morphology created_by: hecht creation_date: 2014-05-25T10:40:06Z [Term] id: HP:0012813 name: Unilateral breast hypoplasia def: "Underdevelopment of the breast on one side only." [HPO:probinson] is_a: HP:0003187 ! Breast hypoplasia property_value: HP:0040005 "Underdevelopment of the `breast` (FMA:9601) on one side only." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-05-26T08:11:58Z [Term] id: HP:0012814 name: Bilateral breast hypoplasia def: "Underdevelopment of the breast on both sides." [HPO:probinson] is_a: HP:0003187 ! Breast hypoplasia property_value: HP:0040005 "Underdevelopment of the `breast` (FMA:9601) on both sides." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-05-26T08:12:34Z [Term] id: HP:0012815 name: Hypoplastic female external genitalia def: "Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris)." [HPO:probinson] is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0003241 ! External genital hypoplasia created_by: peter creation_date: 2014-05-27T08:14:55Z [Term] id: HP:0012816 name: Right ventricular noncompaction cardiomyopathy def: "A predominantly right ventricular variant of isolated noncompaction cardiomyopathy." [HPO:probinson, pmid:23921774] is_a: HP:0012817 ! Noncompaction cardiomyopathy created_by: hecht creation_date: 2014-05-28T08:35:01Z [Term] id: HP:0012817 name: Noncompaction cardiomyopathy def: "A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber." [HPO:probinson, pmid:15210614, pmid:24282766] comment: Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [pmid:15210614]. synonym: "Noncompaction of the ventricular myocardium" EXACT [] synonym: "Spongiform cardiomyopathy" EXACT [] is_a: HP:0001638 ! Cardiomyopathy created_by: hecht creation_date: 2014-05-28T08:37:34Z [Term] id: HP:0012818 name: Biventricular noncompaction cardiomyopathy def: "Noncompaction cardiomyopathy that affects both ventricles." [HPO:probinson] is_a: HP:0012817 ! Noncompaction cardiomyopathy created_by: hecht creation_date: 2014-05-28T08:49:23Z [Term] id: HP:0012819 name: Myocarditis def: "Inflammation of the myocardium." [HPO:probinson, pmid:21304213, pmid:22185868, pmid:22361396] comment: Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, are often associated with acute myocarditis. \nHowever, with the advent of genetic analysis, adenovirus and parvovirus B19 have also been found to be frequent causes of myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment. is_a: HP:0001637 ! Abnormality of the myocardium created_by: hecht creation_date: 2014-05-28T09:01:32Z [Term] id: HP:0012820 name: Biilateral vocal cord paralysis def: "A loss of the ability to move the vocal fold on both sides." [HPO:probinson] is_a: HP:0001605 ! Vocal cord paralysis property_value: HP:0040005 "A loss of the ability to move the `vocal fold` (FMA:55457) on both sides." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-05-28T09:22:32Z [Term] id: HP:0012821 name: Unilateral vocal cord paresis def: "Decreased strength of the vocal fold on one side." [HPO:probinson] is_a: HP:0001604 ! Vocal cord paresis property_value: HP:0040005 "`Decreased strength` (PATO:0001779) of the `vocal fold` (FMA:55457) on one side." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-05-28T09:25:11Z [Term] id: HP:0012822 name: Bilateral vocal cord paresis def: "Decreased strength of the vocal fold on both sides." [HPO:probinson] is_a: HP:0001604 ! Vocal cord paresis property_value: HP:0040005 "`Decreased strength` (PATO:0001779) of the `vocal fold` (FMA:55457) on both sides." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-05-28T09:25:43Z [Term] id: HP:0012823 name: Clinical modifier alt_id: HP:0000004 def: "This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects." [HPO:probinson] comment: Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. synonym: "Phenotypic modifier" EXACT [] is_a: HP:0000001 ! All created_by: peter creation_date: 2014-06-06T06:34:24Z [Term] id: HP:0012824 name: Severity def: "The intensity or degree of a manifestation." [HPO:probinson] comment: Synonymous with PATO:0000049, intensity. synonym: "Intensity" EXACT [] is_a: HP:0012823 ! Clinical modifier created_by: peter creation_date: 2014-06-06T06:39:22Z [Term] id: HP:0012825 name: Mild def: "Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000394, mild. is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T06:41:33Z [Term] id: HP:0012826 name: Moderate def: "Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000395, moderate. is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T06:48:12Z [Term] id: HP:0012827 name: Borderline def: "Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000394, mild. is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T06:52:16Z [Term] id: HP:0012828 name: Severe def: "Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean." [HPO:probinson] comment: PATO:0000396, severe. is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T07:03:17Z [Term] id: HP:0012829 name: Profound def: "Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean." [HPO:probinson] is_a: HP:0012824 ! Severity created_by: peter creation_date: 2014-06-06T07:05:46Z [Term] id: HP:0012830 name: Position def: "The anatomical localization of the specified phenotypic abnormality." [HPO:probinson] is_a: HP:0012823 ! Clinical modifier created_by: peter creation_date: 2014-06-06T07:18:35Z [Term] id: HP:0012831 name: Laterality def: "The localization with respect to the side of the body of the specified phenotypic abnormality." [HPO:probinson] is_a: HP:0012830 ! Position created_by: peter creation_date: 2014-06-06T07:19:19Z [Term] id: HP:0012832 name: Bilateral def: "Being present on both sides of the body." [HPO:probinson] is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:20:42Z [Term] id: HP:0012833 name: Unilateral def: "Being present on only the left or only the right side of the body." [HPO:probinson] is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:21:12Z [Term] id: HP:0012834 name: Right def: "Being located on the right side of the body." [HPO:probinson] synonym: "Right-sided" EXACT [] is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:21:46Z [Term] id: HP:0012835 name: Left def: "Being located on the left side of the body." [HPO:probinson] synonym: "Left-sided" EXACT [] is_a: HP:0012831 ! Laterality created_by: peter creation_date: 2014-06-06T07:23:17Z [Term] id: HP:0012836 name: Spatial pattern def: "The pattern by which a phenotype affects one or more regions of the body." [HPO:probinson] is_a: HP:0012830 ! Position created_by: peter creation_date: 2014-06-06T07:25:02Z [Term] id: HP:0012837 name: Generalized def: "Affecting all regions without specificity of distribution." [HPO:probinson] comment: PATO:0002403. synonym: "Generalised" EXACT [] is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:25:58Z [Term] id: HP:0012838 name: Localized def: "Being confined or restricted to a particular location." [HPO:probinson] comment: PATO:0000627. synonym: "Localised" EXACT [] is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:27:48Z [Term] id: HP:0012839 name: Distal def: "Localized away from the central point of the body." [HPO:probinson] is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:29:38Z [Term] id: HP:0012840 name: Proximal def: "Localized close to the central point of the body." [HPO:probinson] is_a: HP:0012836 ! Spatial pattern created_by: peter creation_date: 2014-06-06T07:30:42Z [Term] id: HP:0012841 name: Retinal vascular tortuosity def: "The presence of an increased number of twists and turns of the retinal blood vessels." [HPO:probinson] synonym: "Tortuous retinal vessels" EXACT [] is_a: HP:0008046 ! Abnormality of the retinal vasculature created_by: peter creation_date: 2014-06-06T07:53:56Z [Term] id: HP:0012842 name: Skin adnexal neoplasm synonym: "Skin adnexal tumor" EXACT [] is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0011138 ! Abnormality of skin adnexa created_by: peter creation_date: 2014-06-06T08:02:51Z [Term] id: HP:0012843 name: Hair follicle neoplasm def: "An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth." [HPO:probinson] is_a: HP:0012842 ! Skin adnexal neoplasm created_by: peter creation_date: 2014-06-06T08:03:49Z [Term] id: HP:0012844 name: Trichilemmoma def: "A benign tumour originating from the outer root sheath of the hair follicle." [UToronto:htrang] synonym: "Tricholemmoma" EXACT [] is_a: HP:0012843 ! Hair follicle neoplasm created_by: peter creation_date: 2014-06-06T08:05:05Z [Term] id: HP:0012845 name: Single trichilemmoma def: "Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson] is_a: HP:0012844 ! Trichilemmoma created_by: peter creation_date: 2014-06-06T08:06:37Z [Term] id: HP:0012846 name: Multiple trichilemmomata def: "Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle." [HPO:probinson] synonym: "Multiple trichilemmomas" EXACT [] is_a: HP:0012844 ! Trichilemmoma created_by: peter creation_date: 2014-06-06T08:07:30Z [Term] id: HP:0012847 name: Epilepsia partialis continua def: "A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals." [UToronto:htrang] is_a: HP:0002133 ! Status epilepticus created_by: peter creation_date: 2014-06-06T08:09:22Z [Term] id: HP:0012848 name: Small intestinal stenosis def: "The narrowing or partial blockage of a portion of the small intestine." [HPO:probinson] is_a: HP:0002244 ! Abnormality of the small intestine created_by: hecht creation_date: 2014-06-07T09:00:19Z [Term] id: HP:0012849 name: Small intestinal bleeding def: "Bleeding from the small intestine." [HPO:probinson] synonym: "Small intestinal hemorrhage" EXACT [] is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002584 ! Intestinal bleeding created_by: hecht creation_date: 2014-06-07T09:12:22Z [Term] id: HP:0012850 name: Small intestinal dysmotility def: "Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes." [HPO:probinson] is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002579 ! Gastrointestinal dysmotility created_by: robinson creation_date: 2014-06-07T09:15:02Z [Term] id: HP:0012851 name: Colonic stenosis def: "A narrowing of a segment of colon whereby bowel continuity is maintained." [HPO:probinson] synonym: "Stenosis of the colon" EXACT [] is_a: HP:0002250 ! Abnormality of the large intestine created_by: hecht creation_date: 2014-06-07T09:22:41Z [Term] id: HP:0012852 name: Hepatic bridging fibrosis def: "Hepatic fibrosis that reaches from a portal area to another portal area." [HPO:probinson, pmid:14568255] is_a: HP:0001395 ! Hepatic fibrosis created_by: hecht creation_date: 2014-06-07T09:27:43Z [Term] id: HP:0012853 name: Scrotal hypospadias def: "Hypospadias with location of the urethral meatus in the scrotum." [HPO:probinson] is_a: HP:0000047 ! Hypospadias created_by: hecht creation_date: 2014-06-08T10:56:11Z [Term] id: HP:0012854 name: Midshaft hypospadias def: "Hypospadias with location of the urethral meatus in the scrotum." [HPO:probinson, pmid:12371222] is_a: HP:0000047 ! Hypospadias created_by: hecht creation_date: 2014-06-08T10:57:24Z [Term] id: HP:0012855 name: Scrotal hyperpgimentation def: "Increased pigmentation (skin color) of the scrotum." [HPO:probinson] comment: This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation. synonym: "Hyperpigmentation of the scrotum" EXACT [] synonym: "Hyperpigmented scrotum" EXACT [] is_a: HP:0000045 ! Abnormality of the scrotum created_by: hecht creation_date: 2014-06-08T11:03:38Z [Term] id: HP:0012856 name: Abnormal scrotal rugation def: "Anomaly of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] is_a: HP:0000045 ! Abnormality of the scrotum created_by: hecht creation_date: 2014-06-08T11:10:00Z [Term] id: HP:0012857 name: Increased scrotal rugation def: "Increased number or density of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] is_a: HP:0012856 ! Abnormal scrotal rugation created_by: hecht creation_date: 2014-06-08T11:12:46Z [Term] id: HP:0012858 name: Decreased scrotal rugation def: "Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum." [HPO:probinson] is_a: HP:0012856 ! Abnormal scrotal rugation created_by: hecht creation_date: 2014-06-08T11:14:00Z [Term] id: HP:0012859 name: Esophageal leukoplakia def: "A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease." [pmid:23765246, UToronto:htrang] synonym: "Esophageal epidermoid metaplasia" RELATED [] is_a: HP:0002031 ! Abnormality of the esophagus created_by: hecht creation_date: 2014-06-08T11:16:53Z [Term] id: HP:0012860 name: Testicular fibrosis def: "Formation of excess connective tissue in the testicle." [HPO:probinson] synonym: "Fibrotic testes" EXACT [] synonym: "Fibrotic testicle" EXACT [] is_a: HP:0000035 ! Abnormality of the testis created_by: hecht creation_date: 2014-06-09T09:29:22Z [Term] id: HP:0012861 name: Ovotestis def: "A gonad that contains both ovarian follicles and testicular tubular elements." [HPO:probinson] comment: An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed. is_a: HP:0000062 ! Ambiguous genitalia created_by: hecht creation_date: 2014-06-09T09:48:37Z [Term] id: HP:0012862 name: Abnormal germ cell morphology def: "Any structural anomaly of a reproductive cell." [HPO:probinson] is_a: HP:0012243 ! Abnormal genital system morphology created_by: hecht creation_date: 2014-06-09T10:01:49Z [Term] id: HP:0012863 name: Abnormal male germ cell morphology def: "A structural anomaly of a male reproductive cell." [HPO:probinson] is_a: HP:0012862 ! Abnormal germ cell morphology created_by: hecht creation_date: 2014-06-09T10:05:33Z [Term] id: HP:0012864 name: Abnormal sperm morphology def: "A structural anomaly of sperm." [HPO:probinson] synonym: "Teratospermia" EXACT [] synonym: "Teratozoospermia" EXACT [] is_a: HP:0012863 ! Abnormal male germ cell morphology property_value: HP:0040005 "A structural anomaly of `sperm`(CL:0000019)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-06-09T10:07:03Z [Term] id: HP:0012865 name: Sperm head anomaly def: "A structural abnormality of the sperm head." [HPO:probinson, pmid:22198630] is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:48:21Z [Term] id: HP:0012866 name: Sperm neck anomaly def: "A structural abnormality of the sperm neck." [HPO:probinson, pmid:22198630] comment: The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece. is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:50:20Z [Term] id: HP:0012867 name: Sperm mid-piece anomaly def: "A structural abnormality of the sperm mid-piece." [HPO:22198630, HPO:probinson] is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:50:37Z [Term] id: HP:0012868 name: Sperm tail anomaly def: "A structural abnormality of the sperm tail." [HPO:probinson, pmid:22198630] comment: Defective sperm flagella are the principal cause of sperm motility disorders. is_a: HP:0012864 ! Abnormal sperm morphology created_by: hecht creation_date: 2014-06-09T10:50:50Z [Term] id: HP:0012869 name: Acephalic spermatozoa def: "Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head." [HPO:probinson, pmid:10402395] is_a: HP:0012865 ! Sperm head anomaly created_by: hecht creation_date: 2014-06-09T10:57:11Z [Term] id: HP:0012870 name: Vanishing testis def: "A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction." [HPO:probinson, pmid:22985611] synonym: "Testicular regression syndrome" RELATED [] is_a: HP:0000035 ! Abnormality of the testis created_by: hecht creation_date: 2014-06-09T11:00:13Z [Term] id: HP:0012871 name: Varicocele def: "A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum." [HPO:probinson] comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. synonym: "Vaginal varicocele" EXACT [] is_a: HP:0000045 ! Abnormality of the scrotum created_by: hecht creation_date: 2014-06-09T11:07:41Z [Term] id: HP:0012872 name: Abnormal vas deferens morphology def: "A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct." [HPO:probinson, MP:0002769] is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: hecht creation_date: 2014-06-09T11:13:37Z [Term] id: HP:0012873 name: Absent vas deferens def: "Aplasia (congenital absence) of the vas deferens." [HPO:probinson] synonym: "Congenital absence of the vas deferens" EXACT [] is_a: HP:0012872 ! Abnormal vas deferens morphology created_by: hecht creation_date: 2014-06-09T11:14:47Z [Term] id: HP:0012874 name: Abnormal male reproductive system physiology def: "An abnormal functionality of the male genital system." [HPO:probinson] synonym: "Abnormal male genital system physiology" RELATED [] is_a: HP:0000080 ! Abnormality of reproductive system physiology property_value: HP:0040005 "An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the male genital system." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-06-09T11:20:46Z [Term] id: HP:0012875 name: Abnormal ejaculation def: "Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract." [HPO:probinson] is_a: HP:0012874 ! Abnormal male reproductive system physiology created_by: hecht creation_date: 2014-06-09T11:21:29Z [Term] id: HP:0012876 name: Premature ejaculation def: "The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [HPO:probinson] xref: MeSH:D061686 "Premature Ejaculation" is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:24:37Z [Term] id: HP:0012877 name: Retrograde ejaculation def: "The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm." [HPO:probinson] is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:25:24Z [Term] id: HP:0012878 name: Retarded ejaculation def: "Difficulty of a male in achieving orgasm." [HPO:probinson, pmid:24528812] synonym: "Delayed ejaculation" EXACT [] is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:29:28Z [Term] id: HP:0012879 name: Anejaculation def: "Inability to ejaculate." [HPO:probinson, pmid:24528812] synonym: "Ejaculatory incompetence" EXACT [] is_a: HP:0012875 ! Abnormal ejaculation created_by: hecht creation_date: 2014-06-09T11:33:16Z [Term] id: HP:0012880 name: Abnormality of the labia minora def: "An anomaly of the labia minora, the folds of skin between the outer labia." [HPO:probinson] is_a: HP:0000058 ! Abnormality of the labia created_by: hecht creation_date: 2014-06-11T07:44:31Z [Term] id: HP:0012881 name: Abnormality of the labia majora def: "An anomaly of the outer labia." [HPO:probinson] is_a: HP:0000058 ! Abnormality of the labia created_by: hecht creation_date: 2014-06-11T07:46:41Z [Term] id: HP:0012882 name: Hyperplastic labia majora def: "Overgrowth of the outer labia." [HPO:probinson] synonym: "Enlarged labia majora" EXACT [] synonym: "Hyperplasia of labia majora" EXACT [] is_a: HP:0012881 ! Abnormality of the labia majora created_by: hecht creation_date: 2014-06-11T07:54:42Z [Term] id: HP:0012883 name: Fallopian tube cyst def: "A fluid filled sac located in the Fallopian tube." [HPO:probinson] is_a: HP:0011027 ! Abnormality of the fallopian tube created_by: hecht creation_date: 2014-06-11T08:00:04Z [Term] id: HP:0012884 name: Fallopian tube torsion def: "A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation." [HPO:probinson, pmid:24251052] comment: Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube. is_a: HP:0011027 ! Abnormality of the fallopian tube created_by: hecht creation_date: 2014-06-11T08:01:57Z [Term] id: HP:0012885 name: Fallopian tube duplication def: "The presence of a supernumerary Fallopian tube." [HPO:probinson, pmid:23532389] comment: Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion. synonym: "Accessory fallopian tube" EXACT [] is_a: HP:0011027 ! Abnormality of the fallopian tube created_by: hecht creation_date: 2014-06-11T08:05:41Z [Term] id: HP:0012886 name: Hemorrhagic ovarian cyst def: "An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst." [HPO:probinson, pmid:12928726] comment: The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy. is_a: HP:0000138 ! Ovarian cyst created_by: hecht creation_date: 2014-06-11T09:26:15Z [Term] id: HP:0012887 name: Ovarian serous cystadenoma def: "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue." [HPO:probinson, PMID:23766763] comment: Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. synonym: "Serous ovarian cyst" RELATED [] xref: MeSH:D018293 "Cystadenoma, Serous" is_a: HP:0000138 ! Ovarian cyst created_by: hecht creation_date: 2014-06-11T09:32:06Z [Term] id: HP:0012888 name: Abnormality of the uterine cervix def: "An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix." [HPO:probinson] is_a: HP:0000130 ! Abnormality of the uterus property_value: HP:0040005 "An anomaly of the neck of the uterus (lower part of the uterus), called the `uterine cervix` (FMA:17740)." xsd:string {xref="HPO:probinson"} created_by: hecht creation_date: 2014-06-11T09:40:02Z [Term] id: HP:0012889 name: Cervical endometriosis def: "Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix." [HPO:probinson] is_a: HP:0012888 ! Abnormality of the uterine cervix is_a: HP:0030127 ! Endometriosis created_by: hecht creation_date: 2014-06-11T09:42:02Z [Term] id: HP:0012890 name: Posteriorly placed anus def: "Posterior malposition of the anus." [UToronto:htrang] is_a: HP:0004397 ! Ectopic anus created_by: peter creation_date: 2014-06-23T10:55:41Z [Term] id: HP:0012891 name: High posterior hairline def: "Hair on the neck extends less inferiorly than usual." [UToronto:htrang] is_a: HP:0030141 ! Abnormality of the posterior hairline created_by: peter creation_date: 2014-06-23T10:57:10Z [Term] id: HP:0012892 name: Facial muscle hypertrophy def: "Muscle hypertrophy affecting the facial muscles." [UToronto:htrang] is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0003712 ! Skeletal muscle hypertrophy created_by: peter creation_date: 2014-06-23T10:58:42Z [Term] id: HP:0012893 name: Neck muscle hypertrophy def: "Muscle hypertrophy affecting the muscles of the neck." [UToronto:htrang] is_a: HP:0003712 ! Skeletal muscle hypertrophy is_a: HP:0011006 ! Abnormality of the musculature of the neck created_by: peter creation_date: 2014-06-23T10:59:17Z [Term] id: HP:0012894 name: Paraspinal muscle hypertrophy def: "Muscle hypertrophy affecting the paraspinal muscles." [UToronto:htrang] is_a: HP:0003712 ! Skeletal muscle hypertrophy created_by: peter creation_date: 2014-06-23T10:59:48Z [Term] id: HP:0012895 name: Scapular muscle hypertrophy def: "Muscle hypertrophy affecting the scapular muscles." [UToronto:htrang] is_a: HP:0003712 ! Skeletal muscle hypertrophy created_by: peter creation_date: 2014-06-23T11:00:11Z [Term] id: HP:0012896 name: Abnormal motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways." [HPO:probinson, pmid:10402095] is_a: HP:0030178 ! Abnormality of central nervous system electrophysiology created_by: peter creation_date: 2014-06-23T11:04:24Z [Term] id: HP:0012897 name: Abnormal upper-limb motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs) in the arm." [UToronto:htrang] synonym: "Abnormal motor evoked potentials in the upper limb" EXACT [] is_a: HP:0012896 ! Abnormal motor evoked potentials created_by: peter creation_date: 2014-06-23T11:08:22Z [Term] id: HP:0012898 name: Abnormal lower-limb motor evoked potentials def: "An anomaly identified by motor evoked potentials (MEPs) in the leg." [UToronto:htrang] synonym: "Abnormal motor evoked potentials in the lower limb" EXACT [] is_a: HP:0012896 ! Abnormal motor evoked potentials created_by: peter creation_date: 2014-06-23T11:09:22Z [Term] id: HP:0012899 name: Handgrip myotonia def: "Difficulty releasing one's grip associated with prolonged first handgrip relaxation times." [pmid:22987687, UToronto:htrang] synonym: "Grip myotonia" EXACT [] is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:10:53Z [Term] id: HP:0012900 name: Myotonia of the face def: "Slowed relaxation of muscles in the face." [UToronto:htrang] is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:14:55Z [Term] id: HP:0012901 name: Myotonia of the jaw def: "Slowed relaxation of muscles in the jaw." [UToronto:htrang] is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:18:29Z [Term] id: HP:0012902 name: Myotonia of the lower limb def: "Slowed relaxation of muscles in the leg." [UToronto:htrang] is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:18:59Z [Term] id: HP:0012903 name: Myotonia of the upper limb def: "Slowed relaxation of muscles in the arm." [UToronto:htrang] is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:19:18Z [Term] id: HP:0012904 name: Cold-sensitive myotonia def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold." [pmid:14617673, UToronto:htrang] is_a: HP:0002486 ! Myotonia created_by: peter creation_date: 2014-06-23T11:20:32Z [Term] id: HP:0012905 name: Euryblepharon def: "Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening." [HPO:probinson, pmid:15249382, pmid:15530943, pmid:24719364] comment: The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome. is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2014-06-23T11:43:42Z [Term] id: HP:0030000 name: EMG: Repetitive nerve stimulation abnormality def: "Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz." [UToronto:HTrang] is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0030001 name: Lagopthalmos def: "A condition in which the eyelids do not close to cover the eye completely. " [] comment: Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function. xref: pmid:20590416 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0030002 name: Nocturnal lagophthalmos def: "The inability to close the eyelids during sleep." [] comment: Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies. xref: pmid:16671223 is_a: HP:0030001 ! Lagopthalmos [Term] id: HP:0030003 name: Paralytic lagophthalmos def: "A type of lagophthalmos that occurs in association with facial nerve palsy." [] comment: Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion. xref: pmid:24618488 is_a: HP:0030001 ! Lagopthalmos [Term] id: HP:0030004 name: Cicatricial lagophthalmos def: "A type of lagophthalmos that occurs following trauma or surgery." [] is_a: HP:0030001 ! Lagopthalmos [Term] id: HP:0030005 name: Capillary leak def: "An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes." [] synonym: "Increased capillary permeability" EXACT [] synonym: "Systemic capillary leak syndrome" RELATED [] xref: pmid:24467750 xref: pmid:24808988 xref: UToronto:HTrang is_a: HP:0030163 ! Abnormal vascular physiology [Term] id: HP:0030006 name: Single fiber EMG abnormality def: "Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers." [HPO:probinson, pmid:21654930] xref: UToronto:HTrang is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0030007 name: EMG: Positive sharp waves def: "These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform." [] xref: pmid:15961866 xref: UToronto:HTrang is_a: HP:0003482 ! EMG: axonal abnormality [Term] id: HP:0030008 name: Cervical agenesis def: "Congenital absence of the cervix." [] synonym: "Aplasia of the cervix" EXACT [] synonym: "Cervical aplasia" EXACT [] is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030009 name: Cervical insufficiency def: "A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent" [] comment: One of the known risk factors for preterm birth is cervical insufficiency. synonym: "Incompetent cervix" EXACT [] xref: pmid:17490914 xref: pmid:20643692 is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030010 name: Hydrometrocolpos def: "Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina." [] comment: Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development. xref: pmid:24046799 is_a: HP:0000142 ! Abnormality of the vagina [Term] id: HP:0030011 name: Imperforate hymen def: "A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina." [] comment: Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen. xref: pmid:24822139 is_a: HP:0000142 ! Abnormality of the vagina [Term] id: HP:0030012 name: Abnormal female reproductive system physiology synonym: "Abnormal female genital system physiology" RELATED [] is_a: HP:0000080 ! Abnormality of reproductive system physiology [Term] id: HP:0030013 name: obsolete Endometriosis def: "The presence of endometrial-like tissue outside the uterus." [] comment: Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone???sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility. xref: pmid:20573927 is_obsolete: true replaced_by: HP:0030127 [Term] id: HP:0030014 name: Female sexual dysfunction is_a: HP:0030012 ! Abnormal female reproductive system physiology [Term] id: HP:0030015 name: Female anorgasmia def: "The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal." [] synonym: "Female orgasmic disorder" BROAD [] xref: pmid:16391543 is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030016 name: Dyspareunia def: "Recurrent or persistent genital pain associated with sexual intercourse." [] comment: Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. xref: pmid:16391543 is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030017 name: Vaginismus def: "Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress." [] comment: Vaginismus usually develops as a conditioned response to painful penetration, or secondary to psychological/emotional factors. xref: pmid:16391543 is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030018 name: Decreased female libido def: "Dminished sexual desire in female." [] is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030019 name: Increased female libido def: "Elevated sexual desire in female" [] is_a: HP:0030014 ! Female sexual dysfunction [Term] id: HP:0030021 name: Auricular tag def: "Small protrusion within the pinna." [eom:1b6d89bad30b8f18, pmid:19152421] comment: The tag can be located on either side of the pinna. is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030022 name: Question mark ear def: "Cleft between the helix and the lobe." [eom:cffbc3de49dbb172, pmid:19152421] comment: Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix. synonym: "Constricted Ear" EXACT [] synonym: "Cosman Ear" EXACT [] synonym: "Question mark ears" EXACT [HPO:skoehler] is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030023 name: Quelprud Nodule def: "Small cartilaginous prominence on the posterior concha." [eom:193d1645eb4eced8, pmid:19152421] comment: This feature is best visualized when the lobe is tilted anteriorly. is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030024 name: Pretragal ectopia def: "Variably shaped, cartilage-containing tissue anterior to the external auditory meatus." [eom:095679c21044c851] comment: Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia. synonym: "Accessory Tragus" RELATED [] synonym: "Pretragal Duplication" RELATED [] is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0030025 name: Auricular pit def: "Small indentation in the lower part of the ascending helix, concha, or in the crus helix." [eom:1fe5d46deac24493, pmid:19152421] comment: The location of the pits is the plane of fusion of the first branchial cleft. is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0030026 name: Squared superior portion of helix def: "Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual." [eom:ddce48fcd9ee46f4, pmid:19152421] comment: This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix. is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0030027 name: Abnormality of the nasal cartilage def: "A morphological anomaly of the nasal cartilage." [] is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0030028 name: Absent nasal cartilage def: "Lack of a palpable nasal cartilage." [eom:73e4e8bb2eec316d, pmid:19152422] comment: This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately. is_a: HP:0030027 ! Abnormality of the nasal cartilage [Term] id: HP:0030029 name: Splayed fingers def: "Divergence of digits along the A/P axis (in the plane of the palm)." [eom:ebc67f029da3caac, pmid:19125433] comment: This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified. synonym: "Spreading of the fingers" EXACT [] is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0030030 name: Absent ray def: "The absence of all phalanges of a digit and the associated metacarpal /metatarsal." [eom:603438e0616f4f69, pmid:19125433] comment: This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not. is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0030031 name: Small toe def: "Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual." [eom:4d06c726e63758c5, pmid:19125433] comment: This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered. is_a: HP:0001991 ! Aplasia/Hypoplasia of toe [Term] id: HP:0030032 name: Partial absence of foot def: "An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals." [eom:6a2c173d3d7e3219, pmid:19125433] is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0030033 name: Small finger def: "Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual." [eom:5b823be1388221a1, pmid:19125433] comment: This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5. is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0030034 name: Diffuse glomerular basement membrane lamellation def: "Presence of abnormal additional layers of the basement membrane of the glomerulus." [] synonym: "Diffuse lamellation of the glomerular basement membrane" EXACT [] xref: pmid:10199473 xref: pmid:12089752 is_a: HP:0000095 ! Abnormality of the glomerulus [Term] id: HP:0030035 name: Struvite nephrolithiasis def: "Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones)." [] synonym: "Struvite kidney stones" EXACT [] is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0030036 name: Isothenuria def: "Inability of the kidneys to produce either concentrated or dilute urine." [] comment: Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate. is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0030037 name: Bifid ureter def: "Incomplete duplication of the ureter." [] xref: pmid:23513084 is_a: HP:0000073 ! Ureteral duplication [Term] id: HP:0030038 name: Enchondroma def: "A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. " [] comment: Most patients have no symptoms. Enchondromas are often identified as incidental findings on X-ray examinations. Enchondromas usually have a radiographic appearance that is long and oval with well-defined margins. is_a: HP:0010622 ! Neoplasm of the skeletal system [Term] id: HP:0030039 name: Fused thoracic vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another." [] is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0030040 name: Fused lumbar vertebrae def: "A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another." [] is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0030041 name: Schmorl's node def: "A Schmorl???s node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. " [] comment: Schmorl???s nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions. synonym: "Schmorl's nodes" EXACT [HPO:skoehler] xref: pmid:22544358 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0030042 name: Incomplete ossification of pubis def: "Failure to complete ossification (maturation and calcification) of the pubic bone." [] is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0030043 name: Hip Subluxation def: "A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket." [] is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0030044 name: Flexion contracture of digit def: "A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [] is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0030045 name: Serpentine fibula def: "Elongated curved (S-shaped) fibulae." [] xref: pmid:21712856 xref: pmid:3409932 is_a: HP:0002991 ! Abnormality of the fibula [Term] id: HP:0030046 name: Hypoglycosylation of alpha-dystroglycan def: "A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue." [] comment: Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-??2, perlecan, neurexin and agrin. Disruption of the interaction between ??-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan. xref: pmid:18691338 is_a: HP:0030112 ! Abnormal muscle fiber alpha dystroglycan [Term] id: HP:0030047 name: Abnormality of lateral ventricle def: "A morphological anomal of the lateral ventricle." [] comment: There are two lateral ventricles, one on each side of the brain. The lateral ventricle resembles a C-shaped structure that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramen of Monro where each lateral ventricle connects to the central third ventricle. is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0030048 name: Colpocephaly def: "Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles." [] xref: pmid:4058748 is_a: HP:0030047 ! Abnormality of lateral ventricle [Term] id: HP:0030049 name: Brain abscess def: "A collection of pus, immune cells, and other material in the brain." [] comment: Brain abscess usually results from a bacterial or fungal infection. is_a: HP:0011450 ! CNS infection [Term] id: HP:0030050 name: Narcolepsy def: "An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis." [] comment: There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy. xref: pmid:21931493 is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0030051 name: Tip-toe gait alt_id: HP:0002394 def: "An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait." [pmid:24757457] comment: Heel-to-toe gait is normally achieved in children around three years of age, after which tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases. synonym: "Walking on tiptoes" EXACT [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0030052 name: Inguinal freckling def: "The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin." [] is_a: HP:0001480 ! Freckling [Term] id: HP:0030053 name: Stiff skin def: "An induration (hardening) of the skin" [] is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0030054 name: Perifollicular fibrosis def: "Presence of excess fibrous connective tissue surrounding hair follicules." [] is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0030055 name: Hyperconvex toenail def: "When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity." [] is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0030056 name: Uncombable hair def: "Hair that is disorderly, stands out from the scalp, and cannot be combed flat." [] is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0030057 name: Autoimmune antibody positivity def: "The presence of an antibody directed against the organism's own cells or tissues." [] is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0030058 name: Sickled erythrocytes def: "An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains)." [] is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0030059 name: Mitochondrial depletion def: "An abnormal reduction in mitochondrial DNA content of cells." [pmid:23385875] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0030060 name: Nervous tissue neoplasm def: "A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system)." [] is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0030061 name: Neuroectodermal neoplasm def: "A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells." [] xref: MeSH:D017599 is_a: HP:0030060 ! Nervous tissue neoplasm [Term] id: HP:0030062 name: Craniopharyngioma def: "A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system." [pmid:17425791] comment: Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, since the tumor may compress the optic chiasm. xref: MeSH:D003397 is_a: HP:0030061 ! Neuroectodermal neoplasm [Term] id: HP:0030063 name: Neuroepithelial neoplasm def: "A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium." [] xref: MeSH:D018302 is_a: HP:0030061 ! Neuroectodermal neoplasm [Term] id: HP:0030064 name: Neurocytoma def: "A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles." [] comment: Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. xref: MeSH:D018306 is_a: HP:0030063 ! Neuroepithelial neoplasm [Term] id: HP:0030065 name: Primitive neuroectodermal tumor def: "A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation. " [] xref: MeSH:D018242 is_a: HP:0030063 ! Neuroepithelial neoplasm [Term] id: HP:0030066 name: Ependymoblastoma def: "A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system. " [] comment: Ependymoblastoma is a rare tumor that occurs in infants and young children in the first two years of life. Both sexes are affected equally. Patients present with signs and symptoms of raised intracranial pressure and hydrocephalus. Focal neurological signs may be present in older children. On MRI, ependymoblastomas are large heterogeneously enhancing lesion with associated brain edema and mass effect. Ependymoblastomas are well-circumscribed lesions, with a distinct margin between tumor and normal brain, though focal microscopic extension and leptomeningeal invasion are common. Histologically, an ependymoblastoma is a primitive neuroectodermal tumor with tumor cell arranged in multilayered rosettes consisting of an outer rim of tumor cells merging with the surrounding undifferentiated neuroectodermal cells. The tumor cells are immunopositive for S100, vimentin, cytokeratin and GFAP, and show high mitotic activity. is_a: HP:0030070 ! Central primitive neuroectodermal tumor [Term] id: HP:0030067 name: Peripheral primitive neuroectodermal neoplasm def: "A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone." [] is_a: HP:0030065 ! Primitive neuroectodermal tumor [Term] id: HP:0030068 name: Olfactory esthesioneuroblastoma def: "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate." [] xref: MeSH:D018304 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0030069 name: Primary central nervous system lymphoma def: "A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS. " [pmid:23696924] comment: Primary central nervous system lymphoma (PCNSL) is defined as the involvement of brain, leptomeninges, cerebrospinal fluid, eyes or spinal cord by an extranodal non-Hodgkin lymphoma (NHL) without evidence of a systemic lymphoma at the time of diagnosis. It represents 0.8 to 6.6% of all primary CNS tumors synonym: "Primary CNS lymphoma" EXACT [] is_a: HP:0012539 ! Non-Hodgkin lymphoma [Term] id: HP:0030070 name: Central primitive neuroectodermal tumor def: "A primitive neuroectodermal neoplasm that occurs in the central nervous system." [] is_a: HP:0030065 ! Primitive neuroectodermal tumor [Term] id: HP:0030071 name: Medulloepithelioma def: "A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal." [pmid:17566306] comment: Medulloepithelioma is a rare primitive neuroectodermal tumour of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence. is_a: HP:0030070 ! Central primitive neuroectodermal tumor [Term] id: HP:0030072 name: Paranasal sinus neoplasm def: "A tumor that originates in the paranasal sinus." [] is_a: HP:0000245 ! Abnormality of the sinuses is_a: HP:0012720 ! Neoplasm of the nose [Term] id: HP:0030073 name: obsolete Pharyngeal neoplasm def: "A neoplasm originating in the pharynx." [] is_obsolete: true replaced_by: HP:0100638 [Term] id: HP:0030074 name: Chemodectoma def: "A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract." [] synonym: "Chemodectomas" EXACT [] xref: MeSH:D010236 is_a: HP:0002668 ! Paraganglioma [Term] id: HP:0030075 name: Ductal carcinoma in situ def: "Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer." [pmid:24415964] is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0030076 name: Lobular carcinoma in situ is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0030077 name: Bronchial neoplasm def: "A tumor originating in a bronchus." [] xref: MeSH:D001984 is_a: HP:0002109 ! Abnormality of the bronchi is_a: HP:0100526 ! Neoplasm of the lung [Term] id: HP:0030078 name: Lung adenocarcinoma is_a: HP:0100526 ! Neoplasm of the lung [Term] id: HP:0030079 name: Cervix cancer def: "A tumor of the uterine cervix." [] xref: MeSH:D002583 is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030080 name: Burkitt lymphoma def: "A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass." [] is_a: HP:0012539 ! Non-Hodgkin lymphoma [Term] id: HP:0030081 name: Punctate periventricular T2 hyperintense foci def: "Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter." [] is_a: HP:0002518 ! Abnormality of the periventricular white matter [Term] id: HP:0030082 name: Abnormal drinking behavior def: "Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption." [] comment: Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0030083 name: Salt craving def: "An excessive desire to eat salt (sodium chloride) or salty foods." [] comment: Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases. is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0030084 name: Clinodactyly def: "An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe)." [pmid:16252026] is_a: HP:0011297 ! Abnormality of digit [Term] id: HP:0030085 name: Abnormal CSF lactate level def: "Abnormal concentration of lactate in the cerebrospinal fluid." [HPO:probinson] is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0030086 name: Reduced CSF lactate def: "Decreased concentration of lactate in the cerebrospinal fluid." [] is_a: HP:0030085 ! Abnormal CSF lactate level [Term] id: HP:0030087 name: Abnormal testosterone level def: "An anomalous concentration of testosterone in the blood." [] is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0030088 name: Increased testosterone def: "An elevated circulating testosterone level in the blood." [] is_a: HP:0003077 ! Hyperlipidemia is_a: HP:0030087 ! Abnormal testosterone level [Term] id: HP:0030089 name: Abnormal muscle fiber protein expression def: "An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue." [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0030090 name: Abnormal muscle fiber merosin expression def: "An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve." [HPO:probinson, pmid:2185464] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030091 name: Absent muscle fiber merosin def: "Lack of merosin protein in the muscle biopsy." [] synonym: "Absent merosin staining in muscle biopsy" EXACT [] synonym: "Absent muscle fiber laminin alpha 2" EXACT [] is_a: HP:0030090 ! Abnormal muscle fiber merosin expression [Term] id: HP:0030092 name: Reduced muscle fiber merosin def: "A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue." [HPO:Probinson] is_a: HP:0030090 ! Abnormal muscle fiber merosin expression [Term] id: HP:0030093 name: Abnormal muscle fiber laminin beta 1 def: "A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1." [HPO:probinson, pmid:9400354, UToronto:HTrang] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030094 name: Reduced muscle fiber laminin beta 1 def: "A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1." [] is_a: HP:0030093 ! Abnormal muscle fiber laminin beta 1 [Term] id: HP:0030095 name: Reduced muscle collagen VI def: "A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle." [UToronto:HTrang] synonym: "Reduced collagen 6 in muscle" EXACT [] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030096 name: Abnormal muscle fiber dystrophin expression def: "A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina. " [pmid:11917091, UToronto:HTrang] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030097 name: Absent muscle dystrophin expression def: "Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. " [pmid:11917091, UToronto:htrang] is_a: HP:0030096 ! Abnormal muscle fiber dystrophin expression [Term] id: HP:0030098 name: Reduced muscle dystrophin expression def: "A decreased amount of dystrophin in muscle fiber tissue." [UToronto:htrang] synonym: "Reduced dystrophin staining in muscle" EXACT [] is_a: HP:0030096 ! Abnormal muscle fiber dystrophin expression [Term] id: HP:0030099 name: Reduced muscle fiber alpha dystroglycan def: "Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly." [HPO:probinson, pmid:11592034, UToronto:htrang] is_a: HP:0030112 ! Abnormal muscle fiber alpha dystroglycan [Term] id: HP:0030100 name: Abnormal muscle fiber alpha sarcoglycan def: "Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030101 name: Absent muscle fiber alpha sarcoglycan def: "Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy." [UToronto:htrang] is_a: HP:0030100 ! Abnormal muscle fiber alpha sarcoglycan [Term] id: HP:0030102 name: Reduced muscle fiber alpha sarcoglycan def: "A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy. " [UToronto:htrang] is_a: HP:0030100 ! Abnormal muscle fiber alpha sarcoglycan [Term] id: HP:0030103 name: Abnormal muscle fiber beta sarcoglycan def: "Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030104 name: Abnormal muscle fiber gamma sarcoglycan def: "Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030105 name: Abnormal muscle fiber delta sarcoglycan def: "Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines." [HPO:probinson, pmid:24843229, UToronto:htrang] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030106 name: Absent muscle fiber beta sarcoglyan def: "Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy. " [UToronto:htrang] is_a: HP:0030103 ! Abnormal muscle fiber beta sarcoglycan [Term] id: HP:0030107 name: Reduced muscle fiber beta sarcoglycan def: "Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy." [UToronto:htrang] is_a: HP:0030103 ! Abnormal muscle fiber beta sarcoglycan [Term] id: HP:0030108 name: Reduced muscle fiber gamma sarcoglycan def: "Immunohistochemistry reveals reduced gamma sarcoglyan protein in the muscle biopsy." [UToronto:htrang] is_a: HP:0030104 ! Abnormal muscle fiber gamma sarcoglycan [Term] id: HP:0030109 name: Absent muscle fiber gamma sarcoglycan def: "Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy. " [UToronto:htrang] is_a: HP:0030104 ! Abnormal muscle fiber gamma sarcoglycan [Term] id: HP:0030110 name: Absent muscle fiber delta sarcoglycan def: "Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy. " [UToronto:htrang] is_a: HP:0030105 ! Abnormal muscle fiber delta sarcoglycan [Term] id: HP:0030111 name: Reduced muscle fiber delta sarcoglycan is_a: HP:0030105 ! Abnormal muscle fiber delta sarcoglycan [Term] id: HP:0030112 name: Abnormal muscle fiber alpha dystroglycan def: "A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly." [] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030113 name: Abnormal muscle fiber dysferlin def: "A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing. " [HPO:probinson, pmid:24843229] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030114 name: Absent muscle fiber dysferlin def: "Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. " [UToronto:htrang] is_a: HP:0030113 ! Abnormal muscle fiber dysferlin [Term] id: HP:0030115 name: Reduced muscle fiber dysferlin def: "Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy." [UToronto:htrang] is_a: HP:0030113 ! Abnormal muscle fiber dysferlin [Term] id: HP:0030116 name: Abnormal muscle fiber emerin def: "A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue." [HPO:probinson] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030117 name: Absent muscle fiber emerin def: "Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy." [UToronto:htrang] is_a: HP:0030116 ! Abnormal muscle fiber emerin [Term] id: HP:0030118 name: Reduced muscle fiber emerin def: "Immunohistochemistry reveals reduced emerin protein in the muscle biopsy." [UToronto:htrang] is_a: HP:0030116 ! Abnormal muscle fiber emerin [Term] id: HP:0030119 name: Abnormal muscle fiber calpain-3 def: "A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates." [HPO:probinson, pmid:24843229] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030120 name: Absent muscle fiber calpain-3 def: "Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue. " [UToronto:htrang] is_a: HP:0030119 ! Abnormal muscle fiber calpain-3 [Term] id: HP:0030121 name: Reduced muscle fiber calpain-3 def: "Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue." [UToronto:htrang] is_a: HP:0030119 ! Abnormal muscle fiber calpain-3 [Term] id: HP:0030122 name: Reduced muscle fiber perlecan def: "Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2)." [HPO:probinson, UToronto:htrang] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030123 name: Abnormal muscle fiber lamin A/C def: "A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation. " [HPO:probinson, pmid:24843229] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030124 name: Reduced muscle fiber lamin A/C def: "A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue." [HPO:probinson, UToronto:htrang] is_a: HP:0030123 ! Abnormal muscle fiber lamin A/C [Term] id: HP:0030125 name: Sacralization of the fifth lumbar vertebra def: "A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both." [UToronto:bgallinger] comment: This anomaly is observed at about 3.5 percent of people and is usually bilateral. synonym: "L5 sacralization" EXACT [] is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0030126 name: Abnormality of the endometrium def: "An anomaly of the inner mucous membrane of the uterus." [HPO:probinson] is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0030127 name: Endometriosis alt_id: HP:0030013 def: "The growth of endometrial tissue outside the uterus." [HPO:probinson, pmid:25221341] comment: The main manifestations of endometriosis are chronic upper abdominal pain and infertility. Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility. is_a: HP:0030012 ! Abnormal female reproductive system physiology is_a: HP:0030126 ! Abnormality of the endometrium [Term] id: HP:0030129 name: Impaired ristocetin cofactor assay activity def: "Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma." [HPO:cmiller] comment: Ristocetin induced platelet agglutination (RIPA) is similar to the Ristocetin Cofactor Assay but RIPA measures platelet agglutination induced by Ristocetin-mediated VWF binding to the platelet Gp1b receptor. WITH RIPA, the ristocetin is added directly to the patient???s platelet rich plasma and there are no serial dilutions of the plasma sample. is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030130 name: Impaired von Willibrand factor collagen binding activity def: "Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers." [HPO:cmiller, pmid:18809794] comment: This abnormality may be seen in von Willibrand disease type 1, type 2A, type 2B, and type 3. is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030131 name: Abnormal von Willebrand Factor multimer distribution def: "Deviation from the normal von Willebrand Factor multimer pattern." [HPO:cmiller] is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030132 name: Absence of large von Willibrand factor multimers def: "Absence of large von Willebrand Factor multimers on gel electrophoresis." [HPO:cmiller] comment: Type 2B von Willibrand disease is characterized by lack of large von Willibrand factor multimers with an otherwise normal von Willibrand factor multimer pattern. is_a: HP:0030131 ! Abnormal von Willebrand Factor multimer distribution [Term] id: HP:0030133 name: Abnormal presence of ultra-large von Willebrand Factor multimers def: "Detection of abnormal ultra-large von Willebrand factor multimers." [HPO:cmiller, pmid:11756169] comment: The type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. is_a: HP:0030131 ! Abnormal von Willebrand Factor multimer distribution [Term] id: HP:0030134 name: Total absence von Willebrand Factor multimers def: "Complete bsence of all von Willebrand factor multimers." [HPO:cmiller] is_a: HP:0030131 ! Abnormal von Willebrand Factor multimer distribution [Term] id: HP:0030135 name: Absence of intermediate von Willibrand factor multimers def: "Lack of intermediate von Willebrand Factor multimers on gel electrophoresis." [HPO:cmiller] comment: Type 2A von Willibrand disease is characterized by the absence of large and intermediate von Willebrand Factor multimers on gel electrophoresis, with preservation of an otherwise normal multimer pattern. is_a: HP:0030131 ! Abnormal von Willebrand Factor multimer distribution [Term] id: HP:0030136 name: Enhanced ristocetin cofactor assay activity def: "Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma." [HPO:cmiller] comment: This abnormality is characteristic of type 2B von Willibrand disease. is_a: HP:0012146 ! Abnormality of von Willebrand factor [Term] id: HP:0030137 name: Prolonged bleeding following circumcision def: "Bleeding that persists for a longer than usual time following circumcision." [] is_a: HP:0011890 ! Prolonged bleeding following procedure [Term] id: HP:0030138 name: Excessive bleeding from superficial cuts def: "An abnormally increased degree of bleeding following a superfical injury to the surface of the skin." [HPO:cmiller] is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0030139 name: Excessive bleeding after a venipuncture def: "An abnormal high amount of bleeding following the procedure of taking a blood sample." [HPO:cmiller] is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0030140 name: Oral cavity bleeding def: "Recurrent or excessive bleeding from the mouth." [HPO:cmiller] is_a: HP:0000163 ! Abnormality of the oral cavity is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0030141 name: Abnormality of the posterior hairline def: "An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not." [HPO:probinson] is_a: HP:0009553 ! Abnormality of the hairline [Term] id: HP:0030142 name: Abnormal bowel sounds def: "An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis." [] is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0030143 name: Hyperactive bowel sounds def: "An increased amount of bowel sounds." [HPO:probinson] is_a: HP:0030142 ! Abnormal bowel sounds [Term] id: HP:0030144 name: Hypoactive bowel sounds def: "An decreased amount of bowel sounds." [HPO:probinson] is_a: HP:0030142 ! Abnormal bowel sounds [Term] id: HP:0030145 name: Lack of bowel sounds def: "Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope." [HPO:probinson] comment: This feature reflects lack of intestinal activity. is_a: HP:0030142 ! Abnormal bowel sounds [Term] id: HP:0030146 name: Abnormal liver parenchyma morphology is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0030147 name: Truncal titubation def: "Tremor of the trunk in an anterior-posterior plane at 3-4 Hz." [HPO:probinson] is_a: HP:0030187 ! Titubation [Term] id: HP:0030148 name: Heart murmur def: "An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart." [HPO:probinson] comment: Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc). synonym: "Cardiac murmur" EXACT [] synonym: "Cardiac murmurs" EXACT [] synonym: "Heart murmurs" EXACT [] xref: MeSH:D006337 is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0030149 name: Cardiogenic shock def: "Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume." [pmid:24188221] comment: Cardiogenic shock can result from a number of different of cardiac insults, the most common of which is acute myocardial infarction. synonym: "Cardiovascular shock" EXACT [] is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0030150 name: Plasmacytosis def: "An abnormally increased number of plasma cells in tissues, exudates, or blood" [] comment: A plasma cells (also known as plasma B cell, plasmocyte, or effector B cell), is a short-lived antibody-producing cell derived from a B lymphocyte. is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0030151 name: Cholangitis def: "Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both." [HPO:probinson] xref: MeSH:D002761 is_a: HP:0012440 ! Abnormal biliary tract morphology [Term] id: HP:0030152 name: obsolete Biliary tract neoplasm def: "Tumor or cancer originating in the biliary tract." [] is_obsolete: true replaced_by: HP:0100574 [Term] id: HP:0030153 name: Cholangiocarcinoma def: "Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension." [HPO:probinson, pmid:18536057, pmid:8268770] is_a: HP:0100574 ! Biliary tract neoplasm [Term] id: HP:0030154 name: Gallbladder perforation def: "Rupture of the wall of the gallbladder." [HPO:probinson, pmid:22210542] comment: Clinical presentation of a ruptuerd gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately. synonym: "Gall bladder perforation" EXACT [] is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0030155 name: Scrotal pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum." [] is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0030156 name: Bence Jones Proteinuria def: "The presence of free monoclonal immunoglobulin light chains in the urine." [HPO:probinson, pmid:7876381] comment: Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia. is_a: HP:0000093 ! Proteinuria [Term] id: HP:0030157 name: Flank pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank." [] comment: The flank is the area on the side of the abdomen between the ribs and the hip. is_a: HP:0002027 ! Abdominal pain [Term] id: HP:0030158 name: Cervical ectropion def: "Eversion of the endocervix with protrusion of the central (endocervical) columnar epithelium through the external os of the cervis into the vaginal milieu." [HPO:probinson, pmid:21270291] synonym: "Cervical ectopy" EXACT [] synonym: "Cervical erosion" RELATED [] is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030159 name: Cervical polyp def: "Abnormal growth of tissue projecting from a mucous membrane of the endocervix." [HPO:probinson, pmid:21270291] is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030160 name: Cervicitis def: "Inflammation of the uterine cervix." [HPO:probinson, pmid:21270291] comment: Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology. synonym: "Uterine cervicitis" EXACT [] is_a: HP:0012888 ! Abnormality of the uterine cervix [Term] id: HP:0030161 name: Vaginal pruritus def: "A sensation of itching in the vagina." [] is_a: HP:0000142 ! Abnormality of the vagina [Term] id: HP:0030162 name: Glomerulomegaly def: "Abnormally large size of glomeruli." [HPO:probinson, pmid:21115671, pmid:9402101] comment: Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states. is_a: HP:0000095 ! Abnormality of the glomerulus [Term] id: HP:0030163 name: Abnormal vascular physiology def: "Abnormality of vascular function." [HPO:probinson] is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0030164 name: Jaw claudication def: "Pain in the jaw or ear induced by chewing or otherwise moving the jaw." [HPO:probinson, pmid:12972467] is_a: HP:0030163 ! Abnormal vascular physiology [Term] id: HP:0030165 name: Temporal artery tortuosity def: "The presence of an increased number of twists and turns of the retinal artery." [HPO:probinson] is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0030166 name: Night sweats def: "Occurence of excessive sweating during sleep." [HPO:probinson, pmid:23136329] comment: Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections. synonym: "Nocturnal hyperhidrosis" EXACT [] is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0030167 name: Antimitochondrial antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. " [HPO:probinson] synonym: "Serum antimitochrondrial antibodies" EXACT [] is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030168 name: Dilated superficial abdominal veins def: "Increase in diameter of the veins located underneath the skin of the abdomen." [pmid:5897968] synonym: "Dilatation of the superficial abdominal veins " EXACT [] is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0030169 name: Gastric varix def: "Extreme dilation of the submucusoal veins in the stomach." [HPO:probinson, pmid:24891929] synonym: "Gastric varices" RELATED [] is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0030170 name: Cystic artery pseudoaneurysm def: "Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue." [HPO:probinson, pmid:24394852] is_a: HP:0012437 ! Abnormal gallbladder morphology [Term] id: HP:0030171 name: Perirenal hematoma def: "A collection of clotted blood surrounding the kidney." [HPO:probinson, pmid:17963347, pmid:3360039] comment: The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury. is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0030172 name: Peripheral amyelination def: " Congenital absence of the myelin sheath on a nerve." [HPO:jbeats, pmid:22246888] is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0030173 name: Peripheral hypermyelination def: "Increased amount of peripheral myelination." [HPO:probinson] synonym: "Increased peripheral myelination" EXACT [] is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0030174 name: Increased peripheral myelin thickness def: "Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion." [HPO:jbeats] is_a: HP:0030173 ! Peripheral hypermyelination [Term] id: HP:0030175 name: Myelin tomacula def: "The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage)." [HPO:jbeats, pmid:10727485] comment: Several mechanisms that may lead to the formation of a tomaculum-for example, hypermyelination, redundant loop formation, the presence of a second mesaxon, transnodal myelination, two Schwann cells forming one myelin sheath, and disruption of the myelin sheath. Sural nerve biopsies typically show regions of myelin thickening as well as features of demyelination and remyelination. synonym: "Tomacula" EXACT [] is_a: HP:0030173 ! Peripheral hypermyelination [Term] id: HP:0030176 name: Asymmetric peripheral demyelination def: "Loss of myelin from peripheral nerves in a pattern that differs between right and left." [HPO:jbaets] comment: This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies. is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0030177 name: Abnormality of peripheral nervous system electrophysiology def: "An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles." [] synonym: "Abnormal nerve conduction study" EXACT [] is_a: HP:0001311 ! Abnormal nervous system electrophysiology [Term] id: HP:0030178 name: Abnormality of central nervous system electrophysiology is_a: HP:0001311 ! Abnormal nervous system electrophysiology [Term] id: HP:0030179 name: Abnormal peripheral action potential amplitude def: "An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve." [] is_a: HP:0003134 ! Abnormality of peripheral nerve conduction [Term] id: HP:0030180 name: Oppenheim reflex def: "Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe)." [UKB:tklockgether] comment: This reflex can indicate affection of the corticospinal (pyramidal) tracts. synonym: "Oppenheim sign" EXACT [] is_a: HP:0007256 ! Abnormal pyramidal signs [Term] id: HP:0030181 name: Gordon reflex def: "Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe)." [pmid:18637037, UKT:rschuele] comment: Gordon's reflex indicates a lesion of the pyramidal tract. synonym: "Gordon sign" EXACT [] is_a: HP:0007256 ! Abnormal pyramidal signs [Term] id: HP:0030182 name: Tetraplegia/tetraparesis def: "Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength." [] is_a: HP:0010549 ! Weakness due to upper motor neuron dysfunction [Term] id: HP:0030183 name: Impaired visually enhanced vestibulo-ocular reflex def: "The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular\ninteraction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR)." [HPO:probinson, pmid:16954982] synonym: "Visually enhanced vestibulo-ocular reflex impairment" EXACT [] synonym: "VVOR impairment" EXACT [] is_a: HP:0007670 ! Abnormal vestibulo-ocular reflex [Term] id: HP:0030185 name: Isometric tremor def: "An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist)." [HPO:probinson, pmid:21404980] is_a: HP:0002345 ! Action tremor [Term] id: HP:0030186 name: Kinetic tremor def: "Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor." [] is_a: HP:0002345 ! Action tremor [Term] id: HP:0030187 name: Titubation def: "Nodding movement of the head or body." [HPO:probinson, pmid:4821687] is_a: HP:0002345 ! Action tremor [Term] id: HP:0030188 name: Tremor by anatomical site def: "Tremor classified by the affected body part." [HPO:probinson] is_a: HP:0001337 ! Tremor [Term] id: HP:0030190 name: Oral motor hypotonia def: "Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affetc the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior." [] is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0030191 name: Abnormal peripheral nervous system synaptic transmission def: "An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system." [] synonym: "Abnormal PNS synaptic transmission" EXACT [] is_a: HP:0012535 ! Abnormal synaptic transmission [Term] id: HP:0030192 name: Fatigable weakness of bulbar muscles def: "A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson, pmid:17986328, UNCL:mbertoli] is_a: HP:0003473 ! Fatigable weakness [Term] id: HP:0030193 name: Fatigable weakness of chewing muscles def: "A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UNCL:tevangelista] is_a: HP:0030192 ! Fatigable weakness of bulbar muscles [Term] id: HP:0030194 name: Fatigable weakness of speech muscles def: "A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UNCL:hlochmueller] is_a: HP:0030192 ! Fatigable weakness of bulbar muscles [Term] id: HP:0030195 name: Fatigable weakness of swallowing muscles def: "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller] is_a: HP:0030192 ! Fatigable weakness of bulbar muscles [Term] id: HP:0030196 name: Fatigable weakness of respiratory muscles def: "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] is_a: HP:0003473 ! Fatigable weakness [Term] id: HP:0030197 name: Fatigable weakness of skeletal muscles def: "A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [] is_a: HP:0003473 ! Fatigable weakness [Term] id: HP:0030198 name: Fatigable weakness of distal limb muscles def: "A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] is_a: HP:0030197 ! Fatigable weakness of skeletal muscles [Term] id: HP:0030199 name: Fatigable weakness of neck muscles def: "A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] is_a: HP:0030197 ! Fatigable weakness of skeletal muscles [Term] id: HP:0030200 name: Fatiguable weakness of proximal limb muscles def: "A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UK:rheller] is_a: HP:0030197 ! Fatigable weakness of skeletal muscles [Term] id: HP:0030201 name: Response to drugs acting on neuromuscular transmission def: "Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis." [UK:rheller] is_a: HP:0030191 ! Abnormal peripheral nervous system synaptic transmission [Term] id: HP:0030202 name: Favorable response of weakness to acetylcholine esterase inhibitors def: "Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor." [UK:rheller] comment: An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. is_a: HP:0030201 ! Response to drugs acting on neuromuscular transmission [Term] id: HP:0030203 name: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors def: "Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor." [UK:rheller] comment: An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis. is_a: HP:0030201 ! Response to drugs acting on neuromuscular transmission [Term] id: HP:0030205 name: Increased jitter at single fibre EMG def: "The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). " [pmid:21654930, UK:rheller] comment: Increased jitter values are not pathogonomic for myasthenia, but indicate disturbed neuromuscular transmission. synonym: "Increased jitter at single fibre electromyography" EXACT [] is_a: HP:0030006 ! Single fiber EMG abnormality is_a: HP:0100285 ! EMG: impaired neuromuscular transmission [Term] id: HP:0030206 name: EMG: incremental response of compound muscle action potential to repetitive nerve stimulation def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation." [pmid:23970984, UK:rheller] comment: This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome. is_a: HP:0100285 ! EMG: impaired neuromuscular transmission [Term] id: HP:0030207 name: Paradoxical respiration def: "Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing." [HPO:tevangelista] synonym: "Flail chest" RELATED [] synonym: "Paradoxical breathing" EXACT [] is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0030208 name: Acetylcholine receptor antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor." [UK:rheller] is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030209 name: Calcium channel antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels." [pmid:7739683, UNCL:mbertoli] comment: This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes. is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030210 name: Muscle specific kinase antibody positivity def: "The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab)." [pmid:22770539, UNCL:hlochmueller] synonym: "Anti-MUSK antibodies" EXACT [] is_a: HP:0030057 ! Autoimmune antibody positivity [Term] id: HP:0030211 name: Slow pupillary light response def: "Reduced velocity and acceleration in the pupillary light response." [pmid:974056, UNCL:tevangelista] is_a: HP:0007695 ! Abnormal pupillary light reflex [Term] id: HP:0030212 name: Collectionism def: "Excessive or pathological tendency to save and collect possessions." [] synonym: "Compulsive hoarding, " EXACT [] is_a: HP:0000722 ! Obsessive-compulsive behavior [Term] id: HP:0030213 name: Emotional blunting def: "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members." [ICM:PCaroppo] is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0030214 name: Hypersexuality def: "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others." [ICM:PCaroppo] is_a: HP:0008768 ! Inappropriate sexual behavior [Term] id: HP:0030215 name: Inappropriate crying def: "Uncontrolled episodes of crying, without apparent motivating stimuli." [ICM:PCaroppo] is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0030216 name: Inertia def: "Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example)." [ICM:PCaroppo] is_a: HP:0000745 ! Diminished motivation [Term] id: HP:0030217 name: Limb apraxia def: "Difficulty in performing the correct execution of limbs movements in absence of motor impairment." [ICM:PCaroppo] is_a: HP:0002186 ! Apraxia [Term] id: HP:0030218 name: Punding def: "Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects." [ICM:PCaroppo, pmid:15077237, pmid:25452726] is_a: HP:0000733 ! Stereotypic behavior [Term] id: HP:0030219 name: Semantic dementia def: "A progressive loss of the ability to remember the meaning of words, faces and objects." [ICM:PCaroppo, pmid:24966676] is_a: HP:0002145 ! Frontotemporal dementia [Term] id: HP:0030220 name: Socially inappropriate behavior def: "Behavior that is not in line with social norms." [ICM:PCaroppo] is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0030221 name: Sweet craving def: "Excessive desire to eat sweet foods." [ICM:PCaroppo] is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0030222 name: Visual agnosia def: "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment." [ICM:PCaroppo] is_a: HP:0010524 ! Agnosia [Term] id: HP:0030223 name: Perseveration def: "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact." [HPO:probinson, pmid:9050113] synonym: "Perseverative behavior" EXACT [] synonym: "Perseverative behaviour" EXACT [] is_a: HP:0000708 ! Behavioral abnormality [Term] id: HP:0030224 name: Abnormal muscle fiber desmin def: "A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein." [Neuromics:vstraub] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030225 name: Accumulation of muscle fiber desmin def: "Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy." [Neuromics:vstraub] synonym: "Muscle fiber desmin-reactive inclusion bodies" EXACT [] is_a: HP:0030224 ! Abnormal muscle fiber desmin [Term] id: HP:0030226 name: Abnormal muscle fiber myotilin def: "A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein." [Neuromics:vstraub] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030227 name: Accumulation of muscle fiber myotilin def: "Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy." [Neuromics:vstraub] is_a: HP:0030226 ! Abnormal muscle fiber myotilin [Term] id: HP:0030228 name: Abnormal muscle fiber valosin-containing protein def: "A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family." [Neuromics:vstraub] is_a: HP:0030089 ! Abnormal muscle fiber protein expression [Term] id: HP:0030229 name: Accumulation of muscle fiber valosin-containing protein def: "Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy." [Neuromics:vstraub] is_a: HP:0030228 ! Abnormal muscle fiber valosin-containing protein [Term] id: HP:0030230 name: Central core regions in muscle fibers def: "The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric." [Neuromics:vstraub, pmid:17504518] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0030231 name: Glycogen accumulation in muscle fiber lysosomes def: "An increased amount of glycogen in muscle tissue found specifically in lysosomes." [Neuromics:vstraub] is_a: HP:0009051 ! Increased muscle glycogen content [Term] id: HP:0030232 name: Increased sarcoplasmic glycogen def: "Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers." [HPO:probinson] is_a: HP:0009051 ! Increased muscle glycogen content [Term] id: HP:0030233 name: Bethlem sign def: "Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures." [Neuromics:vstraub] synonym: "Bethlem phenomenon" EXACT [] is_a: HP:0009473 ! Joint contracture of the hand [Term] id: HP:0030234 name: Highly elevated creatine phosphokinase def: "An increased CPK level between 4X and 50X above the upper normal level." [Neuromics:vstraub] is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0030235 name: Extremely elevated creatine phosphokinase def: "An increased CPK level more than 50X above the upper normal level." [Neuromics:vstraub] is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0030236 name: Abnormality of muscle size def: "Abnormalities of the overall muscle bulk based on clinical observation." [Neuromics:vstraub] is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0030237 name: Hand muscle weakness def: "Reduced strength of the musculature of the hand." [HPO:probinson] is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0030239 name: Hypoplasia of the upper arm musculature def: "Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis." [HPO:probinson] is_a: HP:0009016 ! Upper limb muscle hypoplasia [Term] id: HP:0030241 name: Hypoplasia of deltoid muscle alt_id: HP:0009039 alt_id: HP:0009044 def: "Underdevelopment of the deltoid muscle." [Neuromics:vstraub] synonym: "Deltoid muscle hypoplasia" EXACT [] xref: UMLS:C1868170 is_a: HP:0008952 ! Shoulder muscle hypoplasia [Term] id: HP:0030242 name: Portal vein thrombosis def: "Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins." [HPO:probinson, pmid:21960890] comment: Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion. is_a: HP:0030247 ! Splanchnic vein thrombosis [Term] id: HP:0030243 name: Hepatic vein thrombosis def: "An obstruction in the veins of the liver caused by a blood clot (thrombosis)." [HPO:probinson] is_a: HP:0030247 ! Splanchnic vein thrombosis [Term] id: HP:0030244 name: Maternal fever in pregnancy def: "The occurence of an elevated body temperature of the mother during pregnancy." [HPO:probinson, pmid:24567014] comment: There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester. synonym: "Maternal fever during pregnancy" EXACT [] is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0030245 name: Intrapartum fever def: "The occurence of maternal fever during labor." [HPO:probinson, pmid:11430951, pmid:8135133] comment: Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection‐related mortality. is_a: HP:0030244 ! Maternal fever in pregnancy [Term] id: HP:0030246 name: Maternal first trimester fever def: "The occurence of fever in a mother during the first trimester of pregnancy." [HPO:probinson, pmid:24917213] is_a: HP:0030244 ! Maternal fever in pregnancy [Term] id: HP:0030247 name: Splanchnic vein thrombosis def: "The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity)." [HPO:probinson, pmid:20532730] is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0030248 name: Mesenteric venous thrombosis def: "A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine)." [] comment: Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting is_a: HP:0030247 ! Splanchnic vein thrombosis [Term] id: HP:0030249 name: Enanthema def: "A sudden eruptiion (rash) of the surface of a mucous membrane of the mouth or pharynx." [HPO:probinson] is_a: HP:0011830 ! Abnormality of oral mucosa [Term] id: HP:0030250 name: Pulmonary granulomatosis def: "The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung." [] is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0030251 name: Absence of memory B cells def: "Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin." [HPO:probinson] is_a: HP:0030252 ! Absence of mature B cells [Term] id: HP:0030252 name: Absence of mature B cells def: "Complete lack of mature B cells, that is, of B cells that have left the bone marrow." [HPO:probinson] is_a: HP:0010976 ! B lymphocytopenia [Term] id: HP:0030253 name: Defective T cell proliferation def: "A reduced ability of a T cell population to expand by cell division following T cell activation. " [HPO:probinson] is_a: HP:0005435 ! Impaired T cell function [Term] id: HP:0030254 name: Nail bed hemorrhage def: "Small areas of bleeding (hemorrhage) under the fingernail or toenail." [HPO:probinson] is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0030255 name: Large intestinal polyposis def: "The presence of multiple polyps in the large intestine." [HPO:probinson] is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0030256 name: Small intestinal polyposis def: "The presence of multiple polyps in the small intestine." [HPO:probinson] is_a: HP:0200008 ! Intestinal polyposis [Term] id: HP:0030257 name: Freckled genitalia def: "One or more brown punctate macules on the skin of the genitalia." [HPO:probinson, pmid:23650202] comment: This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s). synonym: "Genitalia, ephelides" EXACT [] is_a: HP:0012293 ! Abnormal genital pigmentation [Term] id: HP:0030258 name: Hyperpigmented genitalia def: "Localized or generalized increased genital pigmentation." [] comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s). synonym: "Penile melanosis" RELATED [] is_a: HP:0012293 ! Abnormal genital pigmentation [Term] id: HP:0030259 name: Hypopigmented genitalia def: "Localized or generalized decreased genital pigmentation." [HPO:probinson, pmid:23650202] comment: This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation. is_a: HP:0012293 ! Abnormal genital pigmentation [Term] id: HP:0030260 name: Microphallus def: "Length of penis more than 2 SD below the mean for age accompanied by hypospadias." [HPO:probinson, pmid:23650202] comment: Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat (“buried”). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean. is_a: HP:0008736 ! Hypoplasia of penis [Term] id: HP:0030261 name: Absent penis def: "Lack of recognizable penile structures." [HPO:probinson, pmid:23650202] comment: Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue. synonym: "Aphallia" EXACT [] is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030262 name: Narrow penis def: "Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age." [HPO:probinson, pmid:23650202] comment: Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis. is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030263 name: Torsion of the penis def: "Rotated position of the glans, with or without the penile shaft, of 30 degrees or more." [HPO:probinson, pmid:23650202] comment: Penile torsion is defined traditionally as being between 30 and 180 degrees rotation. Penile torsion is usually counter clockwise and is often associated with Chordee and Hypospadias, which should be coded separately. is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030264 name: Webbed penis def: "Ventral skinfold extending from penis to scrotum." [pmid:23650202] comment: The distal limit of the skinfold can be located on the penile shaft or the tip of the penis. is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0030265 name: Wide penis def: "Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age." [pmid:23650202] is_a: HP:0030264 ! Webbed penis [Term] id: HP:0030266 name: Abnormality of the sacroiliac notch is_a: HP:0100781 ! Abnormality of the sacroiliac joint [Term] id: HP:0030267 name: Calcification of the interosseus membrane of the forearm def: "Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna." [HPO:probinson] is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0030268 name: Hyperplastic callus formation def: "Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing." [HPO:probinson, pmid:12913845, pmid:17451374] is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0030269 name: Increased serum Insulin-like growth factor 1 def: "An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation." [pmid:18436706] comment: Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass. synonym: "Elevated serum IGF1" EXACT [] synonym: "Increased serum IGF1" EXACT [] is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0030270 name: Elevated red cell adenosine deaminase activity def: "Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine." [HPO:probinson, pmid:3348976] is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity [Term] id: HP:0030271 name: Reduced erythrocyte 2,3-diphosphoglycerate concentration def: "2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes." [HPO:probinson] is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0030272 name: Abnormal erythrocyte enzyme activity def: "An altered ability of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered levels of an enzyme." [] is_a: HP:0001877 ! Abnormality of erythrocytes is_a: HP:0012379 ! Abnormal enzyme/coenzyme activity [Term] id: HP:0030273 name: Reduced red cell adenosine deaminase activity def: "Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine." [HPO:probinson] is_a: HP:0030272 ! Abnormal erythrocyte enzyme activity [Term] id: HP:0030274 name: Accessory scrotum def: "Additional scrotum, or part of a scrotum in an abnormal location." [pmid:23650202] comment: An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately. is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0030275 name: Ectopic scrotum def: "Scrotum in a position other than the usual position inferior to the base of the penis." [pmid:23650202] comment: This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations. is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0030276 name: Small scrotum def: "Apparently small scrotum for age." [pmid:23650202] comment: A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum. synonym: "Hypoplastic scrotum" EXACT [] synonym: "Underdeveloped scrotum" EXACT [] is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0040004 name: Abnormality of corneal shape is_a: HP:0000481 ! Abnormality of the cornea created_by: koehlers [Term] id: HP:0040006 name: Mortality/Aging is_a: HP:0000001 ! All [Term] id: HP:0040007 name: Absent pigmentation of chest def: "Lack of skin pigmentation (coloring) of the chest." [HPO:skoehler] is_a: HP:0200098 ! Absent skin pigmentation [Term] id: HP:0040008 name: Aplasia of facial bones is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0040009 name: Hyperparakeratosis is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0001036 ! Parakeratosis [Term] id: HP:0040010 name: Small posterior fossa is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0040011 name: Flat posterior fossa is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0040012 name: Chromsome breakage is_a: HP:0003220 ! Abnormality of chromosome stability [Term] id: HP:0040013 name: Decreased mitochondrial number is_a: HP:0012102 ! Abnormal mitochondrial number [Term] id: HP:0040014 name: Increased mitochondrial number is_a: HP:0012102 ! Abnormal mitochondrial number [Term] id: HP:0040015 name: Increased activity of mitochondrial respiratory chain is_a: HP:0011922 ! Abnormal activity of mitochondrial respiratory chain [Term] id: HP:0040016 name: Prominent coccyx is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0040017 name: Protruding coccyx is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0040018 name: Clinodactyly of hallux is_a: HP:0001863 ! Toe clinodactyly is_a: HP:0010051 ! Deviation of the hallux [Term] id: HP:0040019 name: Finger clinodactyly is_a: HP:0004097 ! Deviation of finger is_a: HP:0030084 ! Clinodactyly [Term] id: HP:0040020 name: Radial deviation of the 5th finger is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009466 ! Radial deviation of finger [Term] id: HP:0040021 name: Radial deviation of the thumb is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009603 ! Deviation of the thumb [Term] id: HP:0040022 name: Clinodactyly of the 2nd finger is_a: HP:0009468 ! Deviation of the 2nd finger is_a: HP:0040019 ! Finger clinodactyly [Term] id: HP:0040023 name: Clinodactyly of the thumb is_a: HP:0009603 ! Deviation of the thumb is_a: HP:0040019 ! Finger clinodactyly [Term] id: HP:0040024 name: Clinodactyly of the 3rd finger is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0040019 ! Finger clinodactyly [Term] id: HP:0040025 name: Clinodactyly of the 4th finger is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0040019 ! Finger clinodactyly [Term] id: HP:0040030 name: Chorioretinal hypopigmentation is_a: HP:0007661 ! Chorioretinal hypopigmentation or hyperpigmentation [Term] id: HP:0040031 name: Chorioretinal hyperpigmentation is_a: HP:0007661 ! Chorioretinal hypopigmentation or hyperpigmentation [Term] id: HP:0040032 name: Hypoplasia of the upper eyelids is_a: HP:0011226 ! Aplasia/Hypoplasia affecting the eyelid [Term] id: HP:0040033 name: Aplasia/Hypoplasia of the fifth metatarsal bone is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones is_a: HP:0008089 ! Abnormality of the fifth metatarsal bone [Term] id: HP:0040034 name: Abnormality of the second metatarsal bone is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0040035 name: Abnormality of the fourth metatarsal bone is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0040036 name: Onychogryposis of fingernail def: "Thickened fingernails." [] is_a: HP:0001805 ! Thick nail [Term] id: HP:0040037 name: obsolete Thin fingernail (obsolete) is_obsolete: true replaced_by: HP:0012742 [Term] id: HP:0040038 name: obsolete Thin toenail is_obsolete: true replaced_by: HP:0012746 [Term] id: HP:0040039 name: Onycholysis of fingernails synonym: "ONYCHOLYSIS OF FINGERNAIL" EXACT [] synonym: "ONYCHOLYSIS OF FINGERNAIL" RELATED [HPO:skoehler] synonym: "ONYCHOLYSIS OF FINGERNAILS" RELATED [HPO:skoehler] is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0001806 ! Onycholysis [Term] id: HP:0040040 name: Onycholysis of toenails is_a: HP:0001806 ! Onycholysis is_a: HP:0008388 ! Abnormality of the toenails [Term] id: HP:0040042 name: Aplasia of the eccrine sweat glands is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands is_a: HP:0011136 ! Aplasia of the sweat glands [Term] id: HP:0040043 name: Hypoplasia of the eccrine sweat glands is_a: HP:0007387 ! Hypoplastic sweat glands is_a: HP:0007592 ! Aplasia/Hypoplastia of the eccrine sweat glands [Term] id: HP:0040044 name: Hypoplasia of the diaphragm is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm [Term] id: HP:0040045 name: Abnormality of the hemidiaphragms is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0040046 name: Abnormality of the left hemidiaphragm is_a: HP:0040045 ! Abnormality of the hemidiaphragms [Term] id: HP:0040047 name: Abnormality of the right hemidiaphragm is_a: HP:0040045 ! Abnormality of the hemidiaphragms [Term] id: HP:0040048 name: Aplasia of the left hemidiaphragm is_a: HP:0040046 ! Abnormality of the left hemidiaphragm [Term] id: HP:0040049 name: Macular edema is_a: HP:0000969 ! Edema is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0040050 name: Sparse upper eyelashes is_a: HP:0000653 ! Sparse eyelashes is_a: HP:0040051 ! Abnormality of upper eyelashes [Term] id: HP:0040051 name: Abnormality of upper eyelashes is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0040052 name: Abnormality of lower eyelashes is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0040053 name: Long lower eyelashes is_a: HP:0000527 ! Long eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes [Term] id: HP:0040054 name: Short upper eyelashes is_a: HP:0010764 ! Short eyelashes is_a: HP:0040051 ! Abnormality of upper eyelashes [Term] id: HP:0040055 name: Short lower eyelashes is_a: HP:0010764 ! Short eyelashes is_a: HP:0040052 ! Abnormality of lower eyelashes [Term] id: HP:0040056 name: Absent upper eyelashes is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0040057 name: Abnormality of nasal hair is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0040059 name: Calcification of ribs is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0040061 name: Osteosclerosis of the radius is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003967 ! Sclerotic forearm bones [Term] id: HP:0040062 name: Slender radius is_a: HP:0003100 ! Slender long bone is_a: HP:0003969 ! Slender forearm bones is_a: HP:0045008 ! Abnormal shape of the radius is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0040063 name: Decreased adipose tissue is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0040064 name: Abnormality of limbs is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0040065 name: Abnormal morphology of bones of the upper limbs is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0040070 ! Abnormality of upper limb bone [Term] id: HP:0040066 name: Abnormal morphology of bones of the lower limbs is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0040069 ! Abnormality of lower limb bone [Term] id: HP:0040068 name: Abnormality of limb bone is_a: HP:0000924 ! Abnormality of the skeletal system is_a: HP:0040064 ! Abnormality of limbs [Term] id: HP:0040069 name: Abnormality of lower limb bone is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0040068 ! Abnormality of limb bone [Term] id: HP:0040070 name: Abnormality of upper limb bone is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0040068 ! Abnormality of limb bone [Term] id: HP:0040071 name: Abnormal morphology of ulna is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040073 ! Abnormal morphology of forearm bone [Term] id: HP:0040072 name: Abnormality of forearm bone is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0040070 ! Abnormality of upper limb bone [Term] id: HP:0040073 name: Abnormal morphology of forearm bone is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs is_a: HP:0040072 ! Abnormality of forearm bone [Term] id: HP:0040075 name: Hypopituitarism is_a: HP:0011747 ! Abnormality of the anterior pituitary [Term] id: HP:0040077 name: Abnormal concentration of calcium in blood is_a: HP:0004363 ! Abnormality of calcium homeostasis [Term] id: HP:0040078 name: Axonal degeneration is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0040079 name: Irregular dentition is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0040080 name: Anteverted ears is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0040081 name: Abnormal levels of creatine kinase in blood is_a: HP:0011021 ! Abnormality of circulating enzyme level [Term] id: HP:0040082 name: Happy demeanor is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0040083 name: Toe walking synonym: "Toe-walking" EXACT [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0040084 name: Abnormal circulating renin synonym: "Abnormal plasma renin" EXACT [HPO:skoehler] is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0040085 name: Abnormal circulating aldosterone synonym: "Abnormal plasma aldosterone" EXACT [HPO:skoehler] is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0040086 name: Abnormal prolactin level is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0040087 name: Abnormality of folate in blood synonym: "Abnormal serum folate" EXACT [HPO:skoehler] is_a: HP:0100507 ! Folate deficiency [Term] id: HP:0040088 name: Abnormal lymphocyte count synonym: "ABNORMAL LYMPHOCYTE COUNTS" EXACT [HPO:skoehler] synonym: "Abnormal number of lymphocytes" EXACT [HPO:skoehler] synonym: "ABNORMAL NUMBERS OF LYMPHOCYTES" EXACT [] synonym: "Abnormality of lymphocyte number" EXACT [HPO:skoehler] is_a: HP:0004332 ! Abnormality of lymphocytes is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0040089 name: Abnormality of natural killer cell number synonym: "Abnormal number of natural killer cells" EXACT [HPO:skoehler] synonym: "Abnormality of natural killer cell count" EXACT [HPO:skoehler] is_a: HP:0012176 ! Abnormality of natural killer cells [Term] id: HP:0040090 name: Abnormality of the tympanic membrane def: "An abnormality of the tympanic membrane" [] comment: The tympanic membrane is considered to be the border of middle and outer ear. is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0040091 name: Asymmetry of the size of ears is_a: HP:0010722 ! Asymmetry of the ears [Term] id: HP:0040092 name: Asymmetry of the shape of the ears is_a: HP:0010722 ! Asymmetry of the ears [Term] id: HP:0040093 name: Asymmetry of the position of the ears is_a: HP:0010722 ! Asymmetry of the ears [Term] id: HP:0040095 name: Neoplasm of the outer ear def: "A tumor (abnormal growth of tissue) of the outer ear." [HPO:probinson] is_a: HP:0012780 ! Neoplasm of the ear [Term] id: HP:0040096 name: Neoplasm of the inner ear def: "A tumor (abnormal growth of tissue) of the inner ear." [HPO:probinson] is_a: HP:0012780 ! Neoplasm of the ear [Term] id: HP:0040097 name: Neoplasm of the ceruminal gland def: "A tumor (abnormal growth of tissue) of the ceruminal gland." [HPO:probinson] synonym: "Adenoma of the ceruminous gland" EXACT [] synonym: "Ceruminoma" EXACT [] synonym: "Ceruminous adenoma" EXACT [] is_a: HP:0040095 ! Neoplasm of the outer ear [Term] id: HP:0040098 name: Basalioma of the outer ear is_a: HP:0002671 ! Basal cell carcinoma is_a: HP:0040095 ! Neoplasm of the outer ear [Term] id: HP:0040099 name: Abnormality of the round window is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0040100 name: Abnormality of the vestibular window synonym: "Abnormality of the oval window" EXACT [] is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0040101 name: Cutaneous atresia of the external auditory canal is_a: HP:0000413 ! Atresia of the external auditory canal [Term] id: HP:0040102 name: Osseous atresia of the external auditory canal is_a: HP:0000413 ! Atresia of the external auditory canal [Term] id: HP:0040103 name: Cutaneous stenosis of the external auditory canal is_a: HP:0000402 ! Stenosis of the external auditory canal [Term] id: HP:0040104 name: Osseous stenosis of the external auditory canal is_a: HP:0000402 ! Stenosis of the external auditory canal [Term] id: HP:0040106 name: Morphological abnormality of the lateral semicircular canal synonym: "Morphological abnormality of the horizontal semicircular canal" EXACT [] is_a: HP:0011380 ! Morphological abnormality of the semicircular canal [Term] id: HP:0040107 name: Morphological abnormality of the posterior semicircular canal is_a: HP:0011380 ! Morphological abnormality of the semicircular canal [Term] id: HP:0040108 name: Morphological abnormality of the anterior semicircular canal is_a: HP:0011380 ! Morphological abnormality of the semicircular canal [Term] id: HP:0040109 name: Morphological abnormality of the utricle is_a: HP:0011380 ! Morphological abnormality of the semicircular canal [Term] id: HP:0040110 name: Morphological abnormality of the saccule is_a: HP:0011380 ! Morphological abnormality of the semicircular canal [Term] id: HP:0040111 name: Bilateral external ear deformity is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0040112 name: Abnormal number of tubercles is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0040113 name: Old-aged sensorineural hearing impairment synonym: "Presbycusis" EXACT [] is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0040114 name: Absence of the reflex of the tensor tympani muscle is_a: HP:0040120 ! Abnormality of the reflex of the tensor tympanii muscle [Term] id: HP:0040115 name: Abnormality of the Eustachian tube is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0040116 name: Aplasia of the Eustachian tube is_a: HP:0040115 ! Abnormality of the Eustachian tube [Term] id: HP:0040117 name: Atresia of the Eustachian tube is_a: HP:0040115 ! Abnormality of the Eustachian tube [Term] id: HP:0040118 name: Stenosis of the Eustachian tube is_a: HP:0040115 ! Abnormality of the Eustachian tube [Term] id: HP:0040119 name: Unilateral conductive hearing impairment is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0040120 name: Abnormality of the reflex of the tensor tympanii muscle is_a: HP:0004454 ! Abnormal middle ear reflexes [Term] id: HP:0040121 name: Abnormality of the acoustic reflex is_a: HP:0004454 ! Abnormal middle ear reflexes [Term] id: HP:0040122 name: Impairment of the the acoustic reflex is_a: HP:0040121 ! Abnormality of the acoustic reflex [Term] id: HP:0040123 name: Impairment of the reflex of the tensor tympanii muscle is_a: HP:0040120 ! Abnormality of the reflex of the tensor tympanii muscle [Term] id: HP:0040124 name: Patent tuba eustachii synonym: "Open tuba eustachii" EXACT [] is_a: HP:0040115 ! Abnormality of the Eustachian tube [Term] id: HP:0040126 name: Abnormal serum cobalamin synonym: "ABNORMAL SERUM COBALAMIN (VITAMIN B12)" EXACT [] is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism [Term] id: HP:0040127 name: Abnormal sweat homeostasis def: "An abnormality of the composition of sweat or the levels of its components." [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0040128 name: Abnormal sweat electrolytes is_a: HP:0040127 ! Abnormal sweat homeostasis [Term] id: HP:0040129 name: Abnormal nerve conduction velocity synonym: "Abnormal nerve conduction" EXACT [] synonym: "ABNORMAL NERVE CONDUCTION VELOCITIES" EXACT [] synonym: "Nerve conduction abnormalities" EXACT [] is_a: HP:0003134 ! Abnormality of peripheral nerve conduction [Term] id: HP:0040130 name: Abnormal serum iron is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0040131 name: Abnormal motor nerve conduction velocity synonym: "ABNORMAL MOTOR NERVE CONDUCTION VELOCITY" EXACT [] is_a: HP:0040129 ! Abnormal nerve conduction velocity [Term] id: HP:0040132 name: Abnormal sensory nerve conduction velocity is_a: HP:0040129 ! Abnormal nerve conduction velocity [Term] id: HP:0040133 name: Abnormal serum ferritin is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0040134 name: Abnormal hepatic iron concentration is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0040135 name: Abnormal transferrin saturation is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0040137 name: Comodogenic acne is_a: HP:0001061 ! Acne [Term] id: HP:0040138 name: Mucinous histiocytosis synonym: "HISTIOCYTOSIS, MUCINOUS" EXACT [] is_a: HP:0100727 ! Histiocytosis [Term] id: HP:0040139 name: Lipogranulomatosis def: "Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions." [] comment: Usually caused by a faulty lipid metabolism is_a: HP:0002955 ! Granulomatosis is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0040140 name: Degeneration of the striatum is_a: HP:0002180 ! Neurodegeneration is_a: HP:0010994 ! Abnormality of the striatum [Term] id: HP:0040141 name: Tardive dyskinesia comment: the involuntary movements are tardive, meaning they have a slow or belated onset is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0040142 name: 5-oxoprolinase deficiency is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0040143 name: Dystopic os odontoideum is_a: HP:0005667 ! Os odontoideum [Term] id: HP:0040144 name: L-2-hydroxyglutaric aciduria is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0040145 name: Dicarboxylic acidemia is_a: HP:0001941 ! Acidosis is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism [Term] id: HP:0040146 name: D-2-hydroxyglutaric acidemia is_a: HP:0040145 ! Dicarboxylic acidemia [Term] id: HP:0040147 name: L-2-hydroxyglutaric acidemia is_a: HP:0040145 ! Dicarboxylic acidemia [Term] id: HP:0040148 name: Cortical myoclonus is_a: HP:0001336 ! Myoclonus [Term] id: HP:0040149 name: Woolly scalp hair is_a: HP:0002224 ! Woolly hair [Term] id: HP:0040150 name: Epiblepharon of upper lid is_a: HP:0011225 ! Epiblepharon [Term] id: HP:0040151 name: Epiblepharon of lower lid is_a: HP:0011225 ! Epiblepharon [Term] id: HP:0040154 name: Acne inversa is_a: HP:0001061 ! Acne [Term] id: HP:0045001 name: Abnormal ossification of the trapezium is_a: HP:0004252 ! Abnormality of the trapezium is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0045002 name: Absent ossification of the trapezium is_a: HP:0045001 ! Abnormal ossification of the trapezium [Term] id: HP:0045003 name: Abnormal ossification of the scaphoid is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0045004 name: Abnormal ossification of the trapezoid bone is_a: HP:0004256 ! Abnormality of the trapezoid bone is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0045005 name: Abnormality of neural tube closure is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0045006 name: Aplasia of lymphatic vessels is_a: HP:0100766 ! Abnormality of the lymphatic vessels [Term] id: HP:0045007 name: Abnormality of the substantia nigra is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002418 ! Abnormality of midbrain morphology [Term] id: HP:0045008 name: Abnormal shape of the radius is_a: HP:0045009 ! Abnormal morphology of the radius [Term] id: HP:0045009 name: Abnormal morphology of the radius is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0040065 ! Abnormal morphology of bones of the upper limbs [Term] id: HP:0045010 name: Abnormality of peripheral nerves is_a: HP:0000759 ! Abnormal peripheral nervous system morphology [Term] id: HP:0045011 name: Decreased urine bicarbonate concentration is_a: HP:0011279 ! Abnormality of urine bicarbonate concentration [Term] id: HP:0045012 name: Decreased urinary catecholamine concentration is_a: HP:0011281 ! Abnormality of urine catecholamine concentration [Term] id: HP:0045013 name: Decreased urinary glucose concentration is_a: HP:0011016 ! Abnormality of urine glucose concentration [Term] id: HP:0045014 name: Hypolipidemia is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0045016 name: Elevated serum long-chain fatty acids synonym: "Increased serum long-chain fatty acids" EXACT [] is_a: HP:0003455 ! Elevated long chain fatty acids [Term] id: HP:0045017 name: Congenital malformation of the left heart is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0045018 name: Partial duplication of eyebrows is_a: HP:0010730 ! Double eyebrow [Term] id: HP:0045025 name: Small palpebral fissure synonym: "SMALL PALPEBRAL FISSURES" EXACT [HPO:skoehler] is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0045026 name: Abnormality of the mediastinum alt_id: HP:0100722 is_a: HP:0045027 ! Abnormality of the thoracic cavity [Term] id: HP:0045027 name: Abnormality of the thoracic cavity is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0045028 name: Type III lissencephaly comment: See OMIM entry 601160 synonym: "LISSENCEPHALY TYPE III" EXACT [] is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0045029 name: Eosinophilic fasciitis is_a: HP:0001880 ! Eosinophilia is_a: HP:0100537 ! Fasciitis [Term] id: HP:0100000 name: Early onset of sexual maturation def: "An early onset of puberty, in this case early does not refer to precocious." [HPO:probinson] is_a: HP:0008373 ! Puberty and gonadal disorders created_by: doelkens creation_date: 2010-05-04T10:35:02Z [Term] id: HP:0100001 name: Malignant mesothelioma def: "Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer." [HPO:sdoelken] xref: UMLS:C0345967 "Malignant mesothelioma" is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2010-05-11T04:10:29Z [Term] id: HP:0100002 name: Pleural mesothelioma def: "A Malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma." [HPO:sdoelken] xref: UMLS:C1377913 "Pleural Mesothelioma" is_a: HP:0100001 ! Malignant mesothelioma is_a: HP:0100527 ! Neoplasia of the pleura property_value: HP:0040005 "A `Malignant mesothelioma` (HP:0100001) originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100003 name: Peritoneal mesothelioma def: "A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma." [HPO:sdoelken] xref: UMLS:C1377610 "Peritoneal Mesothelioma" is_a: HP:0002585 ! Abnormality of the peritoneum is_a: HP:0100001 ! Malignant mesothelioma is_a: HP:0100016 ! Abnormality of the mesentery property_value: HP:0040005 "A `Malignant mesothelioma` (HP:0100001) originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100004 name: Pericardial mesothelioma def: "A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart)." [HPO:sdoelken] xref: UMLS:C1335381 "Pericardial Mesothelioma" is_a: HP:0001697 ! Abnormality of the pericardium is_a: HP:0100001 ! Malignant mesothelioma property_value: HP:0040005 "A `Malignant mesothelioma` (HP:0100001) originating from cells of the pericardium (the thin layer of mesothelium lining the heart)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100005 name: Testicular mesothelioma def: "A Malignant mesothelioma of the testis." [HPO:probinson] comment: Testicular mesothelioma originates from cells of the tunica vaginalis (the thin layer of mesothelium surrounding the testicles). Testicular mesothelioma is the rarest form of mesothelioma. is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0100001 ! Malignant mesothelioma property_value: HP:0040005 "A `Malignant mesothelioma` (HP:0100001) of the `testis` (FMA:7210)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100006 name: Neoplasm of the central nervous system def: "A neoplasm of the central nervous system." [HPO:probinson] synonym: "Neoplasia of the central nervous system" RELATED [] synonym: "Tumors of the central nervous system" EXACT [HPO:sdoelken] is_a: HP:0002011 ! Morphological abnormality of the central nervous system is_a: HP:0004375 ! Neoplasm of the nervous system property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `central nervous system` (FMA:55675)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-05-14T09:11:53Z [Term] id: HP:0100007 name: Neoplasm of the peripheral nervous system def: "A benign or malignant neoplasm (tumour) of the peripheral nervous system." [HPO:probinson] synonym: "Tumor of the peripheral nervous system" EXACT [HPO:sdoelken] is_a: HP:0000759 ! Abnormal peripheral nervous system morphology is_a: HP:0004375 ! Neoplasm of the nervous system property_value: HP:0040005 "A benign or malignant `neoplasm` (MPATH:218) (tumour) of the `peripheral nervous system` (FMA:9903)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-05-14T09:11:53Z [Term] id: HP:0100008 name: Schwannoma def: "A benign nerve sheath tumor composed of Schwann cells." [HPO:sdoelken] comment: Glial cells are cells that support nerve cells. Schwann cells wrap around the axon to form the myelin sheath. Schwann cells are involved in many important aspects of peripheral nerve biology; the conduction of nervous impulses along axons, nerve development and regeneration, trophic support for neurons, production of the nerve extracellular matrix and presentation of antigens to T-lymphocytes. Charcot-Marie-Tooth disease (CMT), Guillain-Barr?? syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells. synonym: "Neurilemmoma" EXACT [] synonym: "Neurinoma" EXACT [] synonym: "Neurolemmoma" EXACT [] synonym: "Schwann cell tumor" EXACT [] synonym: "Schwann cell tumour" EXACT [] synonym: "SCHWANNOMAS" RELATED [HPO:skoehler] xref: MeSH:D009442 "Neurilemmoma" xref: UMLS:C0854906 "Neurilemmoma" is_a: HP:0100007 ! Neoplasm of the peripheral nervous system created_by: doelkens creation_date: 2010-05-14T09:13:07Z [Term] id: HP:0100009 name: Intracranial meningioma xref: UMLS:C0349604 "Intracranial Meningioma" is_a: HP:0002858 ! Meningioma created_by: doelkens creation_date: 2010-05-14T09:29:27Z [Term] id: HP:0100010 name: Spinal meningioma xref: UMLS:C0347515 "Spinal Meningioma" is_a: HP:0002858 ! Meningioma created_by: doelkens creation_date: 2010-05-14T09:29:27Z [Term] id: HP:0100011 name: Scleral schwannoma is_a: HP:0000591 ! Abnormality of the sclera is_a: HP:0100008 ! Schwannoma is_a: HP:0100012 ! Neoplasm of the eye created_by: doelkens creation_date: 2010-05-14T09:41:55Z [Term] id: HP:0100012 name: Neoplasm of the eye def: "A tumor (abnormal growth of tissue) of the eye." [HPO:probinson] synonym: "Neoplasia of the eye" RELATED [] is_a: HP:0011793 ! Neoplasm by anatomical site is_a: HP:0012372 ! Abnormal eye morphology property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the eye." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-05-14T09:43:34Z [Term] id: HP:0100013 name: Neoplasm of the breast alt_id: HP:0010623 def: "A tumor (abnormal growth of tissue) of the breast." [HPO:probinson] synonym: "Neoplasia of the breast" RELATED [] synonym: "Tumours of the breast" RELATED [] xref: MeSH:D001943 "Breast neoplasms" is_a: HP:0000769 ! Abnormality of the breast is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `breast` (FMA:9601)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-05-14T09:45:09Z [Term] id: HP:0100014 name: Epiretinal membrane def: "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken] synonym: "EPIRETINAL MEMBRANES" RELATED [HPO:skoehler] synonym: "Macular pucker" EXACT [] synonym: "Premacular fibrosis" EXACT [] xref: MeSH:D019773 "Epiretinal Membrane" xref: UMLS:C0339543 "Epiretinal Membrane" is_a: HP:0001103 ! Abnormality of the macula created_by: doelkens creation_date: 2010-05-14T09:53:27Z [Term] id: HP:0100015 name: Stahl ear def: "The presence of a supernumerary, i.e. third, crus of the helix (FMA:61024) in the helix, arising at or above the normal bifurcation of the antihelix." [HPO:sdoelken] comment: The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda,\n1980]. synonym: "Additional crus" EXACT [] synonym: "Antihelix" EXACT [] synonym: "Satyr ear" EXACT [] synonym: "Spock ear" EXACT [] synonym: "Third crus" EXACT [] synonym: "Vulcan ear" EXACT [] xref: UMLS:C0229308 "Antihelix" is_a: HP:0011235 ! Additional crus of antihelix property_value: HP:0040005 "The presence of a `supernumerary` (PATO:0002002), i.e. third, `crus of the helix (FMA:61024) in the `helix` (FMA:60992), arising at or above the normal bifurcation of the antihelix." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-05-25T10:30:14Z [Term] id: HP:0100016 name: Abnormality of the mesentery def: "Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium)." [HPO:sdoelken] is_a: HP:0001438 ! Abnormality of the abdomen created_by: doelkens creation_date: 2010-05-25T11:20:36Z [Term] id: HP:0100017 name: Capsular cataract def: "A cataract that affects the capsule of the lens." [HPO:probinson] xref: UMLS:C0339352 "Capsular cataract" is_a: HP:0000518 ! Cataract property_value: HP:0040005 "A cataract that affects the `capsule of the lens` (FMA:58881)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-05-27T06:01:54Z [Term] id: HP:0100018 name: Nuclear cataract def: "A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken] subset: hposlim_core xref: UMLS:C0392557 "Nuclear cataract" is_a: HP:0010920 ! Zonular cataract property_value: HP:0040005 "A nuclear cataract is an opacity or clouding that develops in the `lens nucleus` (FMA:58971). That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-05-28T11:34:45Z [Term] id: HP:0100019 name: Cortical cataract def: "A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance." [HPO:sdoelken] subset: hposlim_core xref: UMLS:C0271160 "Cortical cataract" is_a: HP:0010920 ! Zonular cataract property_value: HP:0040005 "A cataract which affects the layer of the lens surrounding the nucleus, i.e., the `lens cortex` (FMA:58970). It is identified by its unique wedge or spoke appearance." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-05-28T11:35:33Z [Term] id: HP:0100020 name: Posterior capsular cataract def: "A cataract which is found in the back outer layer of the lens. This type often develops more rapidly." [HPO:sdoelken] is_a: HP:0100017 ! Capsular cataract created_by: doelkens creation_date: 2010-05-28T11:36:49Z [Term] id: HP:0100021 name: Cerebral palsy def: "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems." [HPO:sdoelken] synonym: "Cerebral paralysis" EXACT [] xref: MeSH:D002547 "Cerebral Palsy" xref: UMLS:C0007789 "Cerebral Palsy" is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-05-28T11:46:16Z [Term] id: HP:0100022 name: Abnormality of movement alt_id: HP:0001294 def: "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] comment: Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. synonym: "Movement disorder" EXACT [] is_a: HP:0012638 ! Abnormality of nervous system physiology created_by: doelkens creation_date: 2010-05-28T11:48:50Z [Term] id: HP:0100023 name: Recurrent hand flapping def: "A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down." [HPO:probinson] is_a: HP:0000733 ! Stereotypic behavior created_by: doelkens creation_date: 2010-05-28T12:10:09Z [Term] id: HP:0100024 name: Conspicuously happy disposition def: "An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger." [HPO:sdoelken] synonym: "Conspicious happy aspect" EXACT [] synonym: "Happy aspect" EXACT [] is_a: HP:0100851 ! Abnormal emotion/affect behavior created_by: doelkens creation_date: 2010-05-28T05:32:35Z [Term] id: HP:0100025 name: Overfriendliness def: "A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction." [HPO:sdoelken] is_a: HP:0012433 ! Abnormal social behavior created_by: doelkens creation_date: 2010-05-28T05:42:06Z [Term] id: HP:0100026 name: Arteriovenous malformation def: "An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries." [HPO:probinson] xref: MeSH:D001165 "Arteriovenous Malformations" xref: UMLS:C0003857 "Arteriovenous Malformations" is_a: HP:0002597 ! Abnormality of the vasculature created_by: doelkens creation_date: 2010-05-31T05:32:31Z [Term] id: HP:0100027 name: Recurrent pancreatitis def: "A recurrent form of pancreatitis." [HPO:probinson] synonym: "Recurring pancreatitis" EXACT [] xref: UMLS:C1840398 "Recurring pancreatitis" is_a: HP:0001733 ! Pancreatitis property_value: HP:0040005 "A `recurrent` (PATO:0000427) form of `pancreatitis` (HP:0001733)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-06-01T01:45:23Z [Term] id: HP:0100028 name: Ectopic thyroid def: "Mislocalised thyroid gland." [HPO:sdoelken] comment: An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Appart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract. synonym: "Aberrant thyroid" EXACT [HPO:sdoelken] is_a: HP:0008188 ! Thyroid dysgenesis property_value: HP:0040005 "`Mislocalised` (PATO:0000628) `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-06-10T10:16:37Z [Term] id: HP:0100029 name: Lingual thyroid def: "An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue (FMA:54645), just posterior to the foramen cecum as a result of a failure of the thyroid to descend." [HPO:sdoelken] comment: A lingual thyroid is the most common form of an aberrant thyroid gland. xref: MeSH:D046151 "Lingual Thyroid" xref: UMLS:C0266284 "Lingual Thyroid" is_a: HP:0100028 ! Ectopic thyroid property_value: HP:0040005 "An aberrant thyroid gland or `Ectopic thyroid` (HP:0100028) located at the base of the tongue (FMA:54645), just posterior to the foramen cecum as a result of a failure of the thyroid to descend." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-06-10T10:20:31Z [Term] id: HP:0100030 name: Accessory ectopic thyroid tissue def: "Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract." [HPO:sdoelken] comment: While the accessory thyroid tissue may be functional, it is generally insufficient for normal function if the main thyroid gland is entirely removed. xref: UMLS:C0266283 "THYROID, ECTOPIC" is_a: HP:0100028 ! Ectopic thyroid created_by: doelkens creation_date: 2010-06-10T10:25:46Z [Term] id: HP:0100031 name: Neoplasm of the thyroid gland def: "A tumor (abnormal growth of tissue) of the thyroid gland." [HPO:probinson] synonym: "Neoplasia of the thyroid gland" RELATED [] is_a: HP:0011772 ! Abnormality of thyroid morphology is_a: HP:0100568 ! Neoplasm of the endocrine system property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-06-10T10:30:24Z [Term] id: HP:0100033 name: Tics def: "A tic is a sudden, repetitive, nonrhythmic, stereotyped motor movement or vocalization involving discrete muscle groups." [HPO:sdoelken] comment: Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. synonym: "Tic disorder" EXACT [] xref: MeSH:D020323 "Tics" xref: UMLS:C0040188 "Tics" is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-06-10T12:10:29Z [Term] id: HP:0100034 name: Motor tics def: "Movement-based tics affecting discrete muscle groups." [HPO:sdoelken] xref: UMLS:C0751900 "Motor 'tics'" is_a: HP:0100033 ! Tics created_by: doelkens creation_date: 2010-06-10T12:13:57Z [Term] id: HP:0100035 name: Phonic tics def: "Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound." [HPO:sdoelken] synonym: "Verbal tics" EXACT [] synonym: "Vocal tics" EXACT [] is_a: HP:0100033 ! Tics created_by: doelkens creation_date: 2010-06-10T12:13:57Z [Term] id: HP:0100036 name: Pseudo-fractures def: "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture." [HPO:sdoelken] comment: Typical sites of involvement are the axillary margins of the scapula, ribs, pubic rami, proximal ends of the femur and ulna. On x-rays pseudo-fractures appear as a lucent line about 1 -2 cm wide, vertical to the cortex and are pathognomonic of osteomalacia, seen on the concave side and are also seen in Paget disease on the convex side of the bone. synonym: "Looser zones" EXACT [] is_a: HP:0003103 ! Abnormal cortical bone morphology created_by: doelkens creation_date: 2010-06-14T05:25:53Z [Term] id: HP:0100037 name: Abnormality of the scalp hair def: "An abnormality of the hair of head." [HPO:probinson] is_a: HP:0001595 ! Abnormality of the hair is_a: HP:0001965 ! Abnormality of the scalp property_value: HP:0040005 "An abnormality of the `hair of head` (FMA:54241)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-06-22T05:29:31Z [Term] id: HP:0100038 name: Slow-growing scalp hair alt_id: HP:0004553 def: "Scalp hair whose growth is slower than normal." [DDD:cmoss] is_a: HP:0002217 ! Slow-growing hair is_a: HP:0100037 ! Abnormality of the scalp hair created_by: doelkens creation_date: 2010-06-22T05:46:59Z [Term] id: HP:0100039 name: Thickened cortex of bones def: "An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones." [HPO:sdoelken] is_a: HP:0003103 ! Abnormal cortical bone morphology property_value: HP:0040005 "An `Abnormality of cortical bone` (HP:0003103) leading to an abnormal thickness of the cortex of affected bones." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-06-24T09:39:01Z [Term] id: HP:0100040 name: Broad 2nd toe def: "A broad appearance of the second toe." [HPO:sdoelken] comment: Note that an apparent broad appearance might be due to a hidden duplication. is_a: HP:0001837 ! Broad toe is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:52:57Z [Term] id: HP:0100041 name: Broad 3rd toe def: "A broad appearance of the third toe." [HPO:sdoelken] is_a: HP:0001837 ! Broad toe is_a: HP:0010320 ! Abnormality of the 3rd toe property_value: HP:0040005 "A broad appearance of the `third toe`(FMA:25051)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-06-24T09:54:55Z [Term] id: HP:0100042 name: Broad 4th toe def: "A broad appearance of the fourth toe." [HPO:sdoelken] is_a: HP:0001837 ! Broad toe is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:55:43Z [Term] id: HP:0100043 name: Broad 5th toe def: "A broad appearance of the fifth toe." [HPO:sdoelken] is_a: HP:0001837 ! Broad toe is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2010-06-24T09:56:25Z [Term] id: HP:0100044 name: Absent epiphyses of the 2nd toe is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100045 name: Bracket epiphyses of the 2nd toe is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100046 name: Cone-shaped epiphyses of the 2nd toe is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100047 name: Enlarged epiphyses of the 2nd toe is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100048 name: Fragmentation of the epiphyses of the 2nd toe is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100049 name: Irregular epiphyses of the 2nd toe is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100050 name: Ivory epiphyses of the 2nd toe def: "Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100051 name: Pseudoepiphyses of the 2nd toe is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100052 name: Small epiphyses of the 2nd toe is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100053 name: Stippling of the epiphyses of the 2nd toe is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100054 name: Triangular epiphyses of the 2nd toe is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:58:18Z [Term] id: HP:0100055 name: Absent epiphyses of the 3rd toe is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100056 name: Bracket epiphyses of the 3rd toe is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100057 name: Cone-shaped epiphyses of the 3rd toe is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100058 name: Enlarged epiphyses of the 3rd toe is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100059 name: Fragmentation of the epiphyses of the 3rd toe is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100060 name: Irregular epiphyses of the 3rd toe is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100061 name: Ivory epiphyses of the 3rd toe def: "Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100062 name: Pseudoepiphyses of the 3rd toe is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100063 name: Small epiphyses of the 3rd toe is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100064 name: Stippling of the epiphyses of the 3rd toe is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100065 name: Triangular epiphyses of the 3rd toe is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:58:55Z [Term] id: HP:0100066 name: Absent epiphyses of the 4th toe is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100067 name: Bracket epiphyses of the 4th toe is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100068 name: Cone-shaped epiphyses of the 4th toe is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100069 name: Enlarged epiphyses of the 4th toe is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100070 name: Fragmentation of the epiphyses of the 4th toe is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100071 name: Irregular epiphyses of the 4th toe is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100072 name: Ivory epiphyses of the 4th toe def: "Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100073 name: Pseudoepiphyses of the 4th toe is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100074 name: Small epiphyses of the 4th toe is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100075 name: Stippling of the epiphyses of the 4th toe is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100076 name: Triangular epiphyses of the 4th toe is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T09:59:30Z [Term] id: HP:0100077 name: Absent epiphyses of the 5th toe is_a: HP:0010162 ! Absent epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100078 name: Bracket epiphyses of the 5th toe is_a: HP:0010163 ! Bracket epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100079 name: Cone-shaped epiphyses of the 5th toe is_a: HP:0010164 ! Cone-shaped epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100080 name: Enlarged epiphyses of the 5th toe is_a: HP:0010165 ! Enlarged epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100081 name: Fragmentation of the epiphyses of the 5th toe is_a: HP:0010166 ! Fragmentation of the epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100082 name: Irregular epiphyses of the 5th toe is_a: HP:0010167 ! Irregular epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100083 name: Ivory epiphyses of the 5th toe def: "Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs." [HPO:probinson] is_a: HP:0010168 ! Ivory epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100084 name: Pseudoepiphyses of the 5th toe is_a: HP:0010169 ! Pseudoepiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100085 name: Small epiphyses of the 5th toe is_a: HP:0010170 ! Small epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100086 name: Stippling of the epiphyses of the 5th toe is_a: HP:0010171 ! Epiphyseal stippling of toe phalanges is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100087 name: Triangular epiphyses of the 5th toe is_a: HP:0010172 ! Triangular epiphyses of the toes is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:00:02Z [Term] id: HP:0100088 name: Abnormality of the epiphysis of the distal phalanx of the 2nd toe is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100089 name: Abnormality of the epiphysis of the middle phalanx of the 2nd toe is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100090 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0010323 ! Abnormality of the epiphyses of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:01:42Z [Term] id: HP:0100091 name: Abnormality of the epiphysis of the distal phalanx of the 3rd toe is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100092 name: Abnormality of the epiphysis of the middle phalanx of the 3rd toe is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100093 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0010329 ! Abnormality of the epiphyses of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:02:07Z [Term] id: HP:0100094 name: Abnormality of the epiphysis of the distal phalanx of the 4th toe is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100095 name: Abnormality of the epiphysis of the middle phalanx of the 4th toe is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100096 name: Abnormality of the epiphysis of the proximal phalanx of the 4th toe is_a: HP:0010335 ! Abnormality of the epiphyses of the 4th toe created_by: doelkens creation_date: 2010-06-24T10:02:24Z [Term] id: HP:0100097 name: Abnormality of the epiphysis of the distal phalanx of the 5th toe is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100098 name: Abnormality of the epiphysis of the middle phalanx of the 5th toe is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100099 name: Abnormality of the epiphysis of the proximal phalanx of the 5th toe is_a: HP:0010341 ! Abnormality of the epiphyses of the 5th toe created_by: doelkens creation_date: 2010-06-24T10:02:41Z [Term] id: HP:0100100 name: Absent epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100101 name: Bracket epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100102 name: Cone-shaped epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100103 name: Enlarged epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100104 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100105 name: Irregular epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100106 name: Ivory epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100107 name: Pseudoepiphysis of the distal phalanx of the 2nd toe is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100108 name: Small epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100109 name: Stippling of the epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100110 name: Triangular epiphysis of the distal phalanx of the 2nd toe is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100088 ! Abnormality of the epiphysis of the distal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:04:20Z [Term] id: HP:0100111 name: Absent epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100112 name: Bracket epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100113 name: Cone-shaped epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100114 name: Enlarged epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100115 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100116 name: Irregular epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100117 name: Ivory epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100118 name: Pseudoepiphysis of the middle phalanx of the 2nd toe is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100119 name: Small epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100120 name: Stippling of the epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100121 name: Triangular epiphysis of the middle phalanx of the 2nd toe is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100089 ! Abnormality of the epiphysis of the middle phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:05:37Z [Term] id: HP:0100122 name: Absent epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100044 ! Absent epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100123 name: Bracket epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100045 ! Bracket epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100124 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100046 ! Cone-shaped epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100125 name: Enlarged epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100047 ! Enlarged epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100126 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100048 ! Fragmentation of the epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100127 name: Irregular epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100049 ! Irregular epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100128 name: Ivory epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100050 ! Ivory epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100129 name: Pseudoepiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100051 ! Pseudoepiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100130 name: Small epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100052 ! Small epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100131 name: Stippling of the epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100053 ! Stippling of the epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100132 name: Triangular epiphysis of the proximal phalanx of the 2nd toe is_a: HP:0100054 ! Triangular epiphyses of the 2nd toe is_a: HP:0100090 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd toe created_by: doelkens creation_date: 2010-06-24T10:06:29Z [Term] id: HP:0100133 name: Abnormality of the pubic hair def: "Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty." [HPO:sdoelken] is_a: HP:0009888 ! Abnormality of secondary sexual hair created_by: doelkens creation_date: 2010-06-24T10:15:30Z [Term] id: HP:0100134 name: Abnormality of the axillary hair def: "Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty." [HPO:sdoelken] is_a: HP:0009888 ! Abnormality of secondary sexual hair created_by: doelkens creation_date: 2010-06-24T10:17:00Z [Term] id: HP:0100135 name: Absent epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100136 name: Bracket epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100137 name: Cone-shaped epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100138 name: Enlarged epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100139 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100140 name: Irregular epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100141 name: Ivory epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100142 name: Pseudoepiphysis of the distal phalanx of the 3rd toe is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100143 name: Small epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100144 name: Stippling of the epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100145 name: Triangular epiphysis of the distal phalanx of the 3rd toe is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100091 ! Abnormality of the epiphysis of the distal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:23:44Z [Term] id: HP:0100146 name: Absent epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100147 name: Bracket epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100148 name: Cone-shaped epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100149 name: Enlarged epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100150 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100151 name: Irregular epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100152 name: Ivory epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100153 name: Pseudoepiphysis of the middle phalanx of the 3rd toe is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100154 name: Small epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100155 name: Stippling of the epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100156 name: Triangular epiphysis of the middle phalanx of the 3rd toe is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100092 ! Abnormality of the epiphysis of the middle phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:13Z [Term] id: HP:0100157 name: Absent epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100055 ! Absent epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100158 name: Bracket epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100056 ! Bracket epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100159 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100057 ! Cone-shaped epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100160 name: Enlarged epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100058 ! Enlarged epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100161 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100059 ! Fragmentation of the epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100162 name: Irregular epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100060 ! Irregular epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100163 name: Ivory epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100061 ! Ivory epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100164 name: Pseudoepiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100062 ! Pseudoepiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100165 name: Small epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100063 ! Small epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100166 name: Stippling of the epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100064 ! Stippling of the epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100167 name: Triangular epiphysis of the proximal phalanx of the 3rd toe is_a: HP:0100065 ! Triangular epiphyses of the 3rd toe is_a: HP:0100093 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd toe created_by: doelkens creation_date: 2010-06-24T10:24:45Z [Term] id: HP:0100168 name: Fragmented epiphyses def: "Fragmented appearance of the epiphyses." [HPO:sdoelken] is_a: HP:0005930 ! Abnormality of the epiphyses created_by: doelkens creation_date: 2010-06-24T11:07:51Z [Term] id: HP:0100169 name: Absent epiphysis of the distal phalanx of the 4th toe is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100170 name: Bracket epiphysis of the distal phalanx of the 4th toe is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100171 name: Cone-shaped epiphysis of the distal phalanx of the 4th toe is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100172 name: Enlarged epiphysis of the distal phalanx of the 4th toe is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100173 name: Fragmentation of the epiphysis of the distal phalanx of the 4th toe is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100174 name: Irregular epiphysis of the distal phalanx of the 4th toe is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100175 name: Ivory epiphysis of the distal phalanx of the 4th toe is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100176 name: Pseudoepiphysis of the distal phalanx of the 4th toe is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100177 name: Small epiphysis of the distal phalanx of the 4th toe is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100178 name: Stippling of the epiphysis of the distal phalanx of the 4th toe is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100179 name: Triangular epiphysis of the distal phalanx of the 4th toe is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100094 ! Abnormality of the epiphysis of the distal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:53:36Z [Term] id: HP:0100180 name: Absent epiphysis of the middle phalanx of the 4th toe is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100181 name: Bracket epiphysis of the middle phalanx of the 4th toe is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100182 name: Cone-shaped epiphysis of the middle phalanx of the 4th toe is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100183 name: Enlarged epiphysis of the middle phalanx of the 4th toe is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100184 name: Fragmentation of the epiphysis of the middle phalanx of the 4th toe is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100185 name: Irregular epiphysis of the middle phalanx of the 4th toe is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100186 name: Ivory epiphysis of the middle phalanx of the 4th toe is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100187 name: Pseudoepiphysis of the middle phalanx of the 4th toe is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100188 name: Small epiphysis of the middle phalanx of the 4th toe is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100189 name: Stippling of the epiphysis of the middle phalanx of the 4th toe is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100190 name: Triangular epiphysis of the middle phalanx of the 4th toe is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100095 ! Abnormality of the epiphysis of the middle phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:13Z [Term] id: HP:0100191 name: Absent epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100066 ! Absent epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100192 name: Bracket epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100067 ! Bracket epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100193 name: Cone-shaped epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100068 ! Cone-shaped epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100194 name: Enlarged epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100069 ! Enlarged epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100195 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100070 ! Fragmentation of the epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100196 name: Irregular epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100071 ! Irregular epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100197 name: Ivory epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100072 ! Ivory epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100198 name: Pseudoepiphysis of the proximal phalanx of the 4th toe is_a: HP:0100073 ! Pseudoepiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100199 name: Small epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100074 ! Small epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100200 name: Stippling of the epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100075 ! Stippling of the epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100201 name: Triangular epiphysis of the proximal phalanx of the 4th toe is_a: HP:0100076 ! Triangular epiphyses of the 4th toe is_a: HP:0100096 ! Abnormality of the epiphysis of the proximal phalanx of the 4th toe created_by: doelkens creation_date: 2010-06-24T04:54:59Z [Term] id: HP:0100202 name: Absent epiphysis of the distal phalanx of the 5th toe is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100203 name: Bracket epiphysis of the distal phalanx of the 5th toe is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100204 name: Cone-shaped epiphysis of the distal phalanx of the 5th toe is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100205 name: Enlarged epiphysis of the distal phalanx of the 5th toe is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100206 name: Fragmentation of the epiphysis of the distal phalanx of the 5th toe is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100207 name: Irregular epiphysis of the distal phalanx of the 5th toe is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100208 name: Ivory epiphysis of the distal phalanx of the 5th toe is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100209 name: Pseudoepiphysis of the distal phalanx of the 5th toe is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100210 name: Small epiphysis of the distal phalanx of the 5th toe is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100211 name: Stippling of the epiphysis of the distal phalanx of the 5th toe is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100212 name: Triangular epiphysis of the distal phalanx of the 5th toe is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100097 ! Abnormality of the epiphysis of the distal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:03:31Z [Term] id: HP:0100213 name: Absent epiphysis of the middle phalanx of the 5th toe is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100214 name: Bracket epiphysis of the middle phalanx of the 5th toe is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100215 name: Cone-shaped epiphysis of the middle phalanx of the 5th toe is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100216 name: Enlarged epiphysis of the middle phalanx of the 5th toe is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100217 name: Fragmentation of the epiphysis of the middle phalanx of the 5th toe is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100218 name: Irregular epiphysis of the middle phalanx of the 5th toe is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100219 name: Ivory epiphysis of the middle phalanx of the 5th toe is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100220 name: Pseudoepiphysis of the middle phalanx of the 5th toe is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100221 name: Small epiphysis of the middle phalanx of the 5th toe is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100222 name: Stippling of the epiphysis of the middle phalanx of the 5th toe is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100223 name: Triangular epiphysis of the middle phalanx of the 5th toe is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100098 ! Abnormality of the epiphysis of the middle phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:00Z [Term] id: HP:0100224 name: Absent epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100077 ! Absent epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100225 name: Bracket epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100078 ! Bracket epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100226 name: Cone-shaped epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100079 ! Cone-shaped epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100227 name: Enlarged epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100080 ! Enlarged epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100228 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100081 ! Fragmentation of the epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100229 name: Irregular epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100082 ! Irregular epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100230 name: Ivory epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100083 ! Ivory epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100231 name: Pseudoepiphysis of the proximal phalanx of the 5th toe is_a: HP:0100084 ! Pseudoepiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100232 name: Small epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100085 ! Small epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100233 name: Stippling of the epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100086 ! Stippling of the epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100234 name: Triangular epiphysis of the proximal phalanx of the 5th toe is_a: HP:0100087 ! Triangular epiphyses of the 5th toe is_a: HP:0100099 ! Abnormality of the epiphysis of the proximal phalanx of the 5th toe created_by: doelkens creation_date: 2010-06-24T05:04:53Z [Term] id: HP:0100235 name: Synostosis involving bones of the toes is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2010-06-24T05:26:38Z [Term] id: HP:0100237 name: Proximal symphalangism (feet) is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes is_a: HP:0100264 ! Proximal symphalangism created_by: doelkens creation_date: 2010-06-24T05:37:18Z [Term] id: HP:0100238 name: Synostosis involving bones of the upper limbs def: "An abnormal union between bones or parts of bones of the upper limbs." [HPO:sdoelken] is_a: HP:0009810 ! Abnormality of upper limb joint is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-06-24T05:49:08Z [Term] id: HP:0100240 name: Synostosis of joints def: "The abnormal fusion of neighboring bones across a joint." [HPO:probinson] is_a: HP:0011729 ! Abnormality of joint mobility created_by: doelkens creation_date: 2010-06-24T06:04:02Z [Term] id: HP:0100241 name: Ectopic respiratory mucosa def: "Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations." [HPO:sdoelken] comment: Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like. is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0012253 ! Abnormal respiratory epithelium morphology created_by: doelkens creation_date: 2010-06-29T11:18:12Z [Term] id: HP:0100242 name: Sarcoma def: "The presence of a sarcoma." [HPO:sdoelken] comment: A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels). xref: MeSH:D012509 "Sarcoma" is_a: HP:0011792 ! Neoplasm by histology property_value: HP:0040005 "The presence of a `sarcoma` (MPATH:551)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-07-08T10:43:57Z [Term] id: HP:0100243 name: Leiomyosarcoma def: "A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma." [HPO:sdoelken] xref: MeSH:D007890 "Leiomyosarcoma" is_a: HP:0100242 ! Sarcoma created_by: doelkens creation_date: 2010-07-08T10:49:35Z [Term] id: HP:0100244 name: Fibrosarcoma def: "A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells." [HPO:sdoelken] xref: MeSH:D005354 "Fibrosarcoma" is_a: HP:0100242 ! Sarcoma created_by: doelkens creation_date: 2010-07-08T10:55:40Z [Term] id: HP:0100245 name: Desmoid tumors def: "Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine." [HPO:sdoelken] comment: Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors.\nRisk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery. is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0010614 ! Fibroma is_a: HP:0100244 ! Fibrosarcoma created_by: doelkens creation_date: 2010-07-08T10:57:06Z [Term] id: HP:0100246 name: Osteoma def: "Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant." [HPO:sdoelken] xref: MeSH:D010016 "Osteoma" is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: doelkens creation_date: 2010-07-08T11:38:30Z [Term] id: HP:0100247 name: Recurrent singultus def: "A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc." [HPO:sdoelken] comment: A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. synonym: "Hiccup" RELATED [] synonym: "HICCUPS" RELATED [HPO:skoehler] synonym: "Recurrent hiccough" EXACT [] synonym: "Recurrent hiccup" EXACT [] synonym: "Recurrent synchronous diaphragmatic flutter" EXACT [] is_a: HP:0000775 ! Abnormality of the diaphragm created_by: doelkens creation_date: 2010-07-08T05:28:00Z [Term] id: HP:0100248 name: Hemiballismus def: "Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements." [HPO:sdoelken] comment: Hemiballismus is a very rare movement disorder. It is five hundred times rarer than Parkinson disease. Its effects can sometimes be severe enough to prevent patients from being able to perform daily functions. It is usually associated with structural brain lesions but can occur with metabolic abnormalities. The symptoms can also decrease while the patient is asleep, unlike some movement disorders. is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0004305 ! Involuntary movements property_value: HP:0040005 "Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the `basal ganglia` (FMA:84013). Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-07-09T12:21:41Z [Term] id: HP:0100249 name: Calcification of muscles def: "Deposition of calcium salts in muscle tissue." [HPO:probinson] synonym: "Skeletal muscle calcinosis" EXACT [] is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0010766 ! Ectopic calcification created_by: doelkens creation_date: 2010-07-09T12:32:25Z [Term] id: HP:0100250 name: Meningeal calcification def: "Calcium deposition affecting the Meninges." [HPO:sdoelken] comment: In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans. is_a: HP:0002514 ! Cerebral calcification is_a: HP:0010651 ! Abnormality of the meninges property_value: HP:0040005 "`Calcium deposition` (MPATH:36) affecting the `Meninges` (FMA:231572)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-07-14T03:41:34Z [Term] id: HP:0100251 name: Lipomas of the central neryous system is_a: HP:0001012 ! Multiple lipomas is_a: HP:0100835 ! Benign neoplasm of the central nervous system created_by: doelkens creation_date: 2010-07-14T03:55:50Z [Term] id: HP:0100252 name: Diaphyseal dysplasia is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0002652 ! Skeletal dysplasia created_by: doelkens creation_date: 2010-07-14T05:01:38Z [Term] id: HP:0100253 name: Abnormality of the medullary cavity of the long bones def: "An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored." [HPO:sdoelken] synonym: "Abnormality of the marrow cavity of the long bones" EXACT [] is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0011314 ! Abnormality of long bone morphology created_by: doelkens creation_date: 2010-07-14T05:09:21Z [Term] id: HP:0100254 name: Stenosis of the medullary cavity of the long bones is_a: HP:0100253 ! Abnormality of the medullary cavity of the long bones created_by: doelkens creation_date: 2010-07-14T05:13:39Z [Term] id: HP:0100255 name: Metaphyseal dysplasia alt_id: HP:0000948 alt_id: HP:0005002 alt_id: HP:0005636 alt_id: HP:0005704 alt_id: HP:0006427 def: "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken] xref: UMLS:C0265294 "Metaphyseal dysplasia" is_a: HP:0000944 ! Abnormality of the metaphyses is_a: HP:0002652 ! Skeletal dysplasia created_by: doelkens creation_date: 2010-07-14T05:15:56Z [Term] id: HP:0100256 name: Senile plaques def: "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken] comment: Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic. synonym: "Braindruse" EXACT [] synonym: "Neuritic plaques" EXACT [] synonym: "Senile druse" EXACT [] xref: MeSH:D058225 "Plaque, Amyloid" is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: doelkens creation_date: 2010-07-15T02:43:44Z [Term] id: HP:0100257 name: Ectrodactyly def: "A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet." [HPO:sdoelken] comment: Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. subset: hposlim_core xref: SNOMEDCT:81208006 "Ectrodactyly" xref: UMLS:C0265554 "Ectrodactyly" is_a: HP:0002813 ! Abnormality of limb bone morphology created_by: doelkens creation_date: 2010-07-15T03:56:58Z [Term] id: HP:0100258 name: Preaxial polydactyly def: "A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe." [HPO:probinson] synonym: "Polydactyly, preaxial" EXACT [HPO:skoehler] is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100259 name: Postaxial polydactyly alt_id: HP:0005808 def: "A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe." [HPO:probinson] synonym: "Postaxial hexadactyly" EXACT [] xref: UMLS:C1846425 "Postaxial hexadactyly" is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100260 name: Mesoaxial polydactyly def: "The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly." [pmid:19125433] synonym: "Central polydactyly" EXACT [] synonym: "Insertional polydactyly" RELATED [] synonym: "Intercalary polydactyly" EXACT [] is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100261 name: Abnormal tendon morphology def: "An abnormality of the structure or form of the tendons, also often called sinews." [HPO:sdoelken] comment: A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. synonym: "Abnormality of the sinew" EXACT [] is_a: HP:0011842 ! Abnormality of skeletal morphology property_value: HP:0040005 "An abnormality of the structure or form of the `tendons` (FMA:9721), also often called sinews." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-07-20T01:20:19Z [Term] id: HP:0100262 name: Synostosis involving digits is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T02:58:46Z [Term] id: HP:0100263 name: Distal symphalangism is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2010-07-20T03:00:19Z [Term] id: HP:0100264 name: Proximal symphalangism is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2010-07-20T03:00:19Z [Term] id: HP:0100265 name: Synostosis of metacarpals/metatarsals is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T03:02:10Z [Term] id: HP:0100266 name: Synostosis of carpals/tarsals alt_id: HP:0005666 alt_id: HP:0005675 alt_id: HP:0005823 def: "The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus." [HPO:sdoelken] synonym: "Carpal and tarsal fusions" EXACT [] synonym: "Coalescence of carpal and tarsal bones" EXACT [] synonym: "Fusion of carpal and tarsal bones" EXACT [] is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T03:02:14Z [Term] id: HP:0100267 name: Lip pit def: "A depression located on a lip." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:235141009 "Lip pits" xref: SNOMEDCT:28041003 "Congenital lip pits" xref: UMLS:C0266092 "Congenital lip pits" xref: UMLS:C0341059 "Lip pits" is_a: HP:0000159 ! Abnormality of the lip is_a: HP:0100276 ! Skin pit created_by: doelkens creation_date: 2010-07-20T04:06:32Z [Term] id: HP:0100268 name: Upper lip pit def: "Depression located on the vermilion of the upper lip, usually paramedian." [HPO:sdoelken] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the upper lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0100269 ! Paramedian lip pit created_by: doelkens creation_date: 2010-07-20T04:06:52Z [Term] id: HP:0100269 name: Paramedian lip pit def: "Depression located paramedially on the vermilion of a lip." [HPO:sdoelken] comment: A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit). is_a: HP:0100267 ! Lip pit created_by: doelkens creation_date: 2010-07-20T04:13:41Z [Term] id: HP:0100270 name: Abnormality of dorsoventral patterning of the limbs def: "An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs." [HPO:sdoelken] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001760 ! Abnormality of the foot created_by: doelkens creation_date: 2010-07-22T05:02:27Z [Term] id: HP:0100271 name: Hyponasal speech def: "Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion." [HPO:sdoelken] is_a: HP:0001608 ! Abnormality of the voice created_by: doelkens creation_date: 2010-07-27T09:57:48Z [Term] id: HP:0100272 name: Branchial sinus def: "A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal." [HPO:sdoelken] comment: Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear. is_a: HP:0009794 ! Branchial anomaly created_by: doelkens creation_date: 2010-07-27T10:10:03Z [Term] id: HP:0100273 name: Neoplasm of the colon xref: MeSH:D003110 "colonic neoplasms" is_a: HP:0100834 ! Neoplasm of the large intestine created_by: doelkens creation_date: 2010-07-28T05:37:31Z [Term] id: HP:0100274 name: Gustatory lacrimation def: "Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal." [HPO:sdoelken] comment: The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition. is_a: HP:0000632 ! Lacrimation abnormality is_a: HP:0001291 ! Abnormality of the cranial nerves created_by: doelkens creation_date: 2010-07-29T11:59:06Z [Term] id: HP:0100275 name: Diffuse cerebellar atrophy alt_id: HP:0006928 def: "Diffuse unlocalised atrophy affecting the cerebellum." [HPO:sdoelken] is_a: HP:0001272 ! Cerebellar atrophy created_by: doelkens creation_date: 2010-08-02T01:22:19Z [Term] id: HP:0100276 name: Skin pit def: "A small, skin-lined tract that leads from the surface to deep within the tissues." [] synonym: "Skin pits" RELATED [] is_a: HP:0011355 ! Localized skin lesion created_by: doelkens creation_date: 2010-08-05T10:51:32Z [Term] id: HP:0100277 name: Periauricular skin pits def: "Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] is_a: HP:0000383 ! Abnormality of periauricular region is_a: HP:0100276 ! Skin pit created_by: doelkens creation_date: 2010-08-05T10:54:32Z [Term] id: HP:0100279 name: Ulcerative colitis def: "A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon." [HPO:sdoelken] synonym: "Colitis ulcerosa" EXACT [] xref: MeSH:D003093 "Colitis, Ulcerative" is_a: HP:0100281 ! Chronic colitis created_by: doelkens creation_date: 2010-08-10T09:25:44Z [Term] id: HP:0100280 name: Crohn's disease def: "A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation." [HPO:sdoelken] synonym: "Granulomatous enteritis and colitis" EXACT [] synonym: "Morbus Crohn" EXACT [] is_a: HP:0100281 ! Chronic colitis created_by: doelkens creation_date: 2010-08-10T09:26:05Z [Term] id: HP:0100281 name: Chronic colitis def: "A chronic inflammatory disease of the large intestine (colon, cecum and rectum)." [HPO:sdoelken] is_a: HP:0002583 ! Colitis created_by: doelkens creation_date: 2010-08-10T09:26:33Z [Term] id: HP:0100282 name: Acute colitis def: "An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum)." [HPO:sdoelken] is_a: HP:0002583 ! Colitis created_by: doelkens creation_date: 2010-08-10T09:26:33Z [Term] id: HP:0100283 name: EMG: continuous motor unit activity at rest def: "Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles." [HPO:probinson] comment: The motor unit contains an anterior horn cell, its axon, and all of the muscle fibers that it innervates via the neuromuscular junction. Note that a healthy relaxed muscle does not show significant EMG activity at rest. is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T12:59:19Z [Term] id: HP:0100284 name: EMG: myotonic discharges def: "High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound." [HPO:probinson] is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:02:13Z [Term] id: HP:0100285 name: EMG: impaired neuromuscular transmission def: "An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP)." [HPO:probinson] is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:02:59Z [Term] id: HP:0100287 name: EMG: slow motor conduction def: "The presence of reduced conduction velocity of motor nerves on electromyography." [HPO:probinson] is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:11:48Z [Term] id: HP:0100288 name: EMG: myokymic discharges def: "The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding." [HPO:probinson] is_a: HP:0002411 ! Myokymia is_a: HP:0003457 ! EMG abnormality created_by: doelkens creation_date: 2010-08-10T01:12:27Z [Term] id: HP:0100289 name: Abnormality of pattern reversal visual evoked potentials is_a: HP:0000649 ! Abnormality of vision evoked potentials created_by: doelkens creation_date: 2010-08-10T01:20:56Z [Term] id: HP:0100290 name: Abnormality of peripheral somatosensory evoked potentials is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials created_by: doelkens creation_date: 2010-08-10T01:31:37Z [Term] id: HP:0100291 name: Abnormality of central somatosensory evoked potentials is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials created_by: doelkens creation_date: 2010-08-10T01:31:37Z [Term] id: HP:0100292 name: Amyloidosis of peripheral nerves def: "The presence of amyloid deposition in the nerves of the peripheral nervous system." [HPO:probinson] is_a: HP:0011034 ! Amyloidosis is_a: HP:0045010 ! Abnormality of peripheral nerves property_value: HP:0040005 "The presence of `amyloid deposition` (MPATH:34) in the nerves of the `peripheral nervous system` (FMA:9903)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-08-10T01:46:51Z [Term] id: HP:0100293 name: Muscle fiber hypertrophy synonym: "Muscle fibre hypertrophy" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T01:57:00Z [Term] id: HP:0100295 name: Muscle fiber atrophy alt_id: HP:0100294 synonym: "Muscle fibre atrophy" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T01:58:24Z [Term] id: HP:0100296 name: Perifascicular muscle fiber atrophy is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T01:59:54Z [Term] id: HP:0100297 name: Increased endomysial connective tissue is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T02:06:32Z [Term] id: HP:0100298 name: Motheaten muscle fibers is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T02:19:26Z [Term] id: HP:0100299 name: Muscle fiber inclusion bodies is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T02:21:34Z [Term] id: HP:0100300 name: Desmin bodies is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:28:49Z [Term] id: HP:0100301 name: Muscle fiber tubular inclusions def: "Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities." [HPO:sdoelken, PMID:15113116] synonym: "Muscle fiber tubular aggregates" EXACT [] is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:31:27Z [Term] id: HP:0100302 name: Muscle fiber tubuloreticular inclusions synonym: "Muscle fiber tubuloreticular aggregates" EXACT [] is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:36:48Z [Term] id: HP:0100303 name: Muscle fiber cytoplasmatic inclusion bodies alt_id: HP:0003790 def: "The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." [HPO:probinson] is_a: HP:0100299 ! Muscle fiber inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:39:22Z [Term] id: HP:0100304 name: Muscle fiber intranuclear inclusion bodies def: "The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins." [HPO:probinson] is_a: HP:0100299 ! Muscle fiber inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:39:22Z [Term] id: HP:0100305 name: Ring fibers def: "Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation." [HPO:sdoelken] is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T02:41:11Z [Term] id: HP:0100306 name: Muscle fiber hyaline bodies is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies created_by: doelkens creation_date: 2010-08-10T02:49:13Z [Term] id: HP:0100307 name: Cerebellar hemisphere hypoplasia is_a: HP:0001321 ! Cerebellar hypoplasia created_by: doelkens creation_date: 2010-08-10T02:51:21Z [Term] id: HP:0100308 name: Cerebral cortical hemiatrophy def: "Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with r abnormal myelination, and enlargement of the ispilateral fourth ventricle." [HPO:probinson] is_a: HP:0002120 ! Cerebral cortical atrophy created_by: doelkens creation_date: 2010-08-10T02:52:37Z [Term] id: HP:0100309 name: Subdural hemorrhage def: "Hemorrhage occurring between the dura mater and the arachnoid mater." [HPO:sdoelken] comment: Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated. synonym: "Subdural haematoma" EXACT [] is_a: HP:0002170 ! Intracranial hemorrhage property_value: HP:0040005 "`Hemorrhage` (MPATH:119) occurring between the `dura mater` (FMA:9592) and the `arachnoid mater` (FMA:9591)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-08-10T03:01:08Z [Term] id: HP:0100310 name: Epidural hemorrhage def: "Hemorrhage occurring between the dura mater and the skull." [HPO:sdoelken] comment: Intracranial bleeding occuring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column. synonym: "Epidural haematoma" EXACT [] synonym: "Epidural hematoma" EXACT [] synonym: "Extradural haematoma" EXACT [] synonym: "Extradural hematoma" EXACT [] is_a: HP:0002170 ! Intracranial hemorrhage property_value: HP:0040005 "`Hemorrhage` (MPATH:119) occurring between the `dura mater` (FMA:9592) and the `skull` (FMA:46565)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-08-10T03:05:35Z [Term] id: HP:0100311 name: Cerebral ventricular adhesions is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: doelkens creation_date: 2010-08-10T03:10:06Z [Term] id: HP:0100312 name: Cerebral germinoma def: "The presence of a germ cell tumor of the cerebrum." [HPO:probinson] is_a: HP:0100620 ! Germinoma is_a: HP:0100835 ! Benign neoplasm of the central nervous system is_a: HP:0100836 ! Malignant neoplasm of the central nervous system property_value: HP:0040005 "The presence of a `germ cell tumor` (MPATH:310) of the `cerebrum` (FMA:62000)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-08-10T03:17:16Z [Term] id: HP:0100313 name: Cerebral granulomatosis def: "Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells." [HPO:probinson, pmid:937513] comment: A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002955 ! Granulomatosis created_by: doelkens creation_date: 2010-08-10T03:19:05Z [Term] id: HP:0100314 name: Cerebral inclusion bodies def: "Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain." [HPO:probinson] comment: Inclusion bodies are usually derived from proteins. is_a: HP:0002060 ! Abnormality of the cerebrum created_by: doelkens creation_date: 2010-08-10T03:31:18Z [Term] id: HP:0100315 name: Lewy bodies synonym: "Lewy body diesase" RELATED [] xref: MeSH:D016631 "Lewy Bodies" is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:32:14Z [Term] id: HP:0100316 name: Hirano bodies def: "Intracellular aggregates of actin and actin-associated proteins within nerve cells." [HPO:probinson] is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:32:38Z [Term] id: HP:0100317 name: Agyrophilic inclusion bodies def: "Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue." [HPO:sdoelken] synonym: "Pick inclusion bodies" EXACT [] is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:35:26Z [Term] id: HP:0100318 name: Lafora bodies def: "An intraneuronal inclusion body composed of acid mucopolysaccharides." [HPO:sdoelken] is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:37:06Z [Term] id: HP:0100319 name: Cerebral hyaline bodies def: "Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance." [HPO:sdoelken] synonym: "Cerebral colloid bodies" EXACT [] is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:39:19Z [Term] id: HP:0100320 name: Rosenthal fibres def: "Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders." [HPO:sdoelken] is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:46:31Z [Term] id: HP:0100321 name: Abnormality of the dentate nucleus def: "An abnormality of the dentate nucleus." [HPO:probinson] is_a: HP:0001317 ! Abnormality of the cerebellum property_value: HP:0040005 "An abnormality of the `dentate nucleus` (FMA:72260)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-08-10T03:56:48Z [Term] id: HP:0100322 name: Aplasia of the pyramidal tract is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract created_by: doelkens creation_date: 2010-08-10T04:00:24Z [Term] id: HP:0100323 name: Juvenile aseptic necrosis def: "Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers." [HPO:sdoelken] comment: Causes may be rapid growth, heredity, trauma or overuse and anatomic conformation. synonym: "Aseptic epiphyseal necrosis" RELATED [] is_a: HP:0010885 ! Aseptic necrosis created_by: doelkens creation_date: 2010-08-10T04:02:42Z [Term] id: HP:0100324 name: Scleroderma alt_id: HP:0001594 alt_id: HP:0007426 def: "A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin." [HPO:sdoelken] comment: A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. synonym: "Progressive systemic scleroderma" EXACT [] synonym: "Pseudoscleroderma" EXACT [] xref: UMLS:C1274865 "Pseudoscleroderma" is_a: HP:0001072 ! Thickened skin created_by: doelkens creation_date: 2010-08-10T04:14:42Z [Term] id: HP:0100326 name: Immunologic hypersensitivity is_a: HP:0010978 ! Abnormality of immune system physiology created_by: doelkens creation_date: 2010-09-16T06:00:43Z [Term] id: HP:0100327 name: Cow milk allergy def: "Hypersensitivity in form of an adverse immune reaction against cow milk protein." [HPO:sdoelken] is_a: HP:0012393 ! Allergy created_by: doelkens creation_date: 2010-09-16T06:03:58Z [Term] id: HP:0100328 name: Carpometacarpal synostosis def: "Fusion involving carpal and metacarpal bones." [HPO:probinson] is_a: HP:0009701 ! Metacarpal synostosis is_a: HP:0009702 ! Carpal synostosis created_by: doelkens creation_date: 2010-10-08T03:52:00Z [Term] id: HP:0100329 name: Tarsometatarsal synostosis is_a: HP:0001440 ! Synostosis involving metatarsal bones is_a: HP:0008368 ! Tarsal synostosis created_by: doelkens creation_date: 2010-10-08T03:53:06Z [Term] id: HP:0100333 name: Unilateral cleft lip alt_id: HP:0100331 def: "A non-midline cleft of the upper lip on one side only." [HPO:probinson] is_a: HP:0100335 ! Non-midline cleft lip created_by: doelkens creation_date: 2010-10-13T04:11:32Z [Term] id: HP:0100334 name: Unilateral cleft palate is_a: HP:0100338 ! Non-midline cleft palate created_by: doelkens creation_date: 2010-10-13T04:16:12Z [Term] id: HP:0100335 name: Non-midline cleft lip alt_id: HP:0010283 alt_id: HP:0100332 def: "Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region." [HPO:probinson] synonym: "Non-midline cleft of the upper lip" EXACT [] is_a: HP:0000204 ! Cleft upper lip created_by: doelkens creation_date: 2010-10-13T04:12:24Z [Term] id: HP:0100336 name: Bilateral cleft lip def: "A non-midline cleft of the upper lip on the left and right sides." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:304068004 "Bilateral cleft lip" xref: UMLS:C0392005 "Bilateral cleft lip" is_a: HP:0100335 ! Non-midline cleft lip created_by: doelkens creation_date: 2010-10-13T04:13:10Z [Term] id: HP:0100337 name: Bilateral cleft palate def: "Nonmidline cleft palate on the left and right sides." [HPO:probinson] subset: hposlim_core is_a: HP:0100338 ! Non-midline cleft palate created_by: doelkens creation_date: 2010-10-13T04:16:32Z [Term] id: HP:0100338 name: Non-midline cleft palate is_a: HP:0000175 ! Cleft palate created_by: doelkens creation_date: 2010-10-13T04:16:40Z [Term] id: HP:0100339 name: Abnormality of the os naviculare pedis is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: doelkens creation_date: 2010-10-13T04:46:42Z [Term] id: HP:0100340 name: Fibular deviation of the 4th toe is_a: HP:0010338 ! Deviation of the 4th toe created_by: doelkens creation_date: 2010-11-11T03:41:54Z [Term] id: HP:0100341 name: Tibial deviation of the 4th toe is_a: HP:0010338 ! Deviation of the 4th toe created_by: doelkens creation_date: 2010-11-11T03:41:54Z [Term] id: HP:0100342 name: Fibular deviation of the 3rd toe is_a: HP:0010332 ! Deviation of the 3rd toe created_by: doelkens creation_date: 2010-11-11T03:43:52Z [Term] id: HP:0100343 name: Tibial deviation of the 3rd toe is_a: HP:0010332 ! Deviation of the 3rd toe created_by: doelkens creation_date: 2010-11-11T03:43:52Z [Term] id: HP:0100344 name: Fibular deviation of the 2nd toe is_a: HP:0010326 ! Deviation of the 2nd toe created_by: doelkens creation_date: 2010-11-11T03:44:07Z [Term] id: HP:0100345 name: Tibial deviation of the 2nd toe is_a: HP:0010326 ! Deviation of the 2nd toe created_by: doelkens creation_date: 2010-11-11T03:44:07Z [Term] id: HP:0100346 name: Fibular deviation of the 5th toe is_a: HP:0010344 ! Deviation of the 5th toe created_by: doelkens creation_date: 2010-11-11T03:44:27Z [Term] id: HP:0100347 name: Tibial deviation of the 5th toe is_a: HP:0010344 ! Deviation of the 5th toe created_by: doelkens creation_date: 2010-11-11T03:44:27Z [Term] id: HP:0100348 name: Contracture of the proximal interphalangeal joint of the 2nd toe def: "The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Camptodactyly of the 2nd toe" EXACT [] synonym: "Camptodactyly of the second toe" EXACT [] is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010327 ! Flexion contracture of the 2nd toe [Term] id: HP:0100349 name: Contracture of the proximal interphalangeal joint of the 3rd toe def: "The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively." [UToronto:htrang] synonym: "Camptodactyly of the 3rd toe" EXACT [] is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010333 ! Flexion contracture of 3rd toe [Term] id: HP:0100350 name: Contracture of the proximal interphalangeal joint of the 4th toe def: "The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Camptodactyly of the 4th toe" EXACT [] synonym: "Camptodactyly of the fourth toe" EXACT [] is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010339 ! Flexion contracture of the 4th toe [Term] id: HP:0100351 name: Contractures of the proximal interphalangeal joint of the 5th toe def: "The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Camptodactyly of the 5th toe" EXACT [] synonym: "Camptodactyly of the fifth toe" EXACT [] is_a: HP:0001836 ! Camptodactyly of toe is_a: HP:0010345 ! Flexion contracture of the 5th toe [Term] id: HP:0100352 name: Contracture of the distal interphalangeal joint of the 2nd toe def: "The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively." [HPO:probinson] synonym: "Contracture of the distal interphalangeal joint of the second toe" EXACT [] is_a: HP:0010327 ! Flexion contracture of the 2nd toe [Term] id: HP:0100353 name: Contracture of the distal interphalangeal joint of the 3rd toe def: "The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010333 ! Flexion contracture of 3rd toe [Term] id: HP:0100354 name: Contracture of the distal interphalangeal joint of the 4th toe def: "The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010339 ! Flexion contracture of the 4th toe [Term] id: HP:0100355 name: Contractures of the distal interphalangeal joint of the 5th toe def: "The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010345 ! Flexion contracture of the 5th toe [Term] id: HP:0100356 name: Contracture of the metatarsophalangeal joint of the 2nd toe def: "The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010327 ! Flexion contracture of the 2nd toe [Term] id: HP:0100357 name: Contracture of the metatarsophalangeal joint of the 3rd toe def: "The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010333 ! Flexion contracture of 3rd toe [Term] id: HP:0100358 name: Contracture of the metatarsophalangeal joint of the 4th toe def: "The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010339 ! Flexion contracture of the 4th toe [Term] id: HP:0100359 name: Contracture of the metatarsophalangeal joint of the 5th toe def: "The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively." [HPO:probinson] is_a: HP:0010345 ! Flexion contracture of the 5th toe [Term] id: HP:0100360 name: Contractures of the joints of the upper limbs is_a: HP:0003121 ! Limb joint contracture created_by: doelkens creation_date: 2010-11-11T04:18:29Z [Term] id: HP:0100362 name: Aplasia of the phalanges of the 3rd toe is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100363 name: Aplasia of the phalanges of the 4th toe is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100364 name: Aplasia of the phalanges of the 5th toe is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010745 ! Aplasia of the phalanges of the toes [Term] id: HP:0100366 name: Short phalanx of the 3rd toe def: "Developmental hypoplasia of the phalanx of third toe." [HPO:sdoelken] synonym: "Hypoplastic/small phalanges of the 3rd toe" EXACT [] synonym: "Short phalanx of the third toe" EXACT [] is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes property_value: HP:0040005 "Developmental hypoplasia of the `phalanx of third toe` (FMA:32900)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100367 name: Short phalanx of the 4th toe def: "Developmental hypoplasia of one or more phalanx of fourth toe." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 4th toe" EXACT [] synonym: "Short phalanx of the fourth toe" EXACT [] is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes property_value: HP:0040005 "Developmental hypoplasia of one or more `phalanx of fourth toe` (FMA:32901)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100368 is_anonymous: true name: Short phalanx of the 5th toe def: "Developmental hypoplasia of one or more phalanx of little toe." [HPO:probinson] synonym: "Hypoplastic/small phalanges of the 5th toe" EXACT [] synonym: "Short phalanx of the fifth toe" EXACT [] is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010746 ! Hypoplasia of the phalanges of the toes property_value: HP:0040005 "Developmental hypoplasia of one or more `phalanx of little toe` (FMA:32902)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100369 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd toe is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100370 name: Aplasia/Hypoplasia of the distal phalanx of the 4th toe is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100371 name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100372 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd toe is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100373 name: Aplasia/Hypoplasia of the middle phalanx of the 4th toe is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100374 name: Aplasia/Hypoplasia of the middle phalanx of the 5th toe is_a: HP:0010194 ! Aplasia/Hypoplasia of the middle phalanges of the toes is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100375 name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe." [HPO:probinson] is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010331 ! Aplasia/Hypoplasia of the 3rd toe is_a: HP:0010359 ! Aplasia/Hypoplasia of the phalanges of the 3rd toe is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100376 name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe." [HPO:probinson] is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010337 ! Aplasia/Hypoplasia of the 4th toe is_a: HP:0010371 ! Aplasia/Hypoplasia of the phalanges of the 4th toe is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100377 name: Aplasia/hypoplasia of the proximal phalanx of the 5th toe def: "Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe." [HPO:probinson] is_a: HP:0010203 ! Aplasia/hypoplasia of proximal toe phalanx is_a: HP:0010343 ! Aplasia/Hypoplasia of the 5th toe is_a: HP:0010383 ! Aplasia/Hypoplasia of the phalanges of the 5th toe is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100378 name: Absent distal phalanx of the 3rd toe def: "Developmental aplasia of the distal phalanx of third toe." [HPO:sdoelken] synonym: "Absent distal phalanx of the third toe" EXACT [] synonym: "Aplasia of the distal phalanx of the 3rd toe" EXACT [] is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe property_value: HP:0040005 "Developmental aplasia of the `distal phalanx of third toe` (FMA:32629)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100379 name: Aplasia of the distal phalanx of the 4th toe is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe [Term] id: HP:0100380 name: Aplasia of the distal phalanx of the 5th toe is_a: HP:0010645 ! Aplasia of the distal phalanges of the toes is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe [Term] id: HP:0100381 name: Absent middle phalanx of the 3rd toe def: "Developmental aplasia of the middle phalanx of third toe." [HPO:sdoelken] synonym: "Absent middle phalanx of the third toe" EXACT [] synonym: "Aplasia of the middle phalanx of the 3rd toe" EXACT [] is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe is_a: HP:0100372 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd toe is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes property_value: HP:0040005 "Developmental aplasia of the `middle phalanx of third toe` (FMA:32624)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100382 name: Aplasia of the middle phalanx of the 4th toe is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes [Term] id: HP:0100383 name: Aplasia of the middle phalanx of the 5th toe is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe is_a: HP:0100387 ! Aplasia of the middle phalanges of the toes [Term] id: HP:0100384 name: Absent proximal phalanx of the 3rd toe def: "Absence of proximal phalanx of third toe, owing to a congenital defect of development." [HPO:probinson] synonym: "Aplasia of the proximal phalanx of the 3rd toe" EXACT [] is_a: HP:0100362 ! Aplasia of the phalanges of the 3rd toe is_a: HP:0100375 ! Aplasia/hypoplasia of the proximal phalanx of the 3rd toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes property_value: HP:0040005 "Absence of `proximal phalanx of third toe` (FMA:32619), owing to a congenital defect of development." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100385 name: Aplasia of the proximal phalanx of the 4th toe is_a: HP:0100363 ! Aplasia of the phalanges of the 4th toe is_a: HP:0100376 ! Aplasia/hypoplasia of the proximal phalanx of the 4th toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100386 name: Aplasia of the proximal phalanx of the 5th toe is_a: HP:0100364 ! Aplasia of the phalanges of the 5th toe is_a: HP:0100377 ! Aplasia/hypoplasia of the proximal phalanx of the 5th toe is_a: HP:0100388 ! Aplasia of the proximal phalanges of the toes [Term] id: HP:0100387 name: Aplasia of the middle phalanges of the toes is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-11-11T04:55:30Z [Term] id: HP:0100388 name: Aplasia of the proximal phalanges of the toes is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: doelkens creation_date: 2010-11-11T04:55:30Z [Term] id: HP:0100389 name: Short distal phalanx of the 3rd toe def: "Developmental hypoplasia of the distal phalanx of third toe." [HPO:probinson] synonym: "Hypoplastic/small distal phalanx of the 3rd toe" EXACT [] synonym: "Short distal phalanx of the third toe" EXACT [] is_a: HP:0100366 ! Short phalanx of the 3rd toe is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe property_value: HP:0040005 "Developmental hypoplasia of the `distal phalanx of third toe` (FMA:32629)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100390 name: Short distal phalanx of the 4th toe def: "Developmental hypoplasia of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 4th toe" EXACT [] synonym: "Short distal phalanx of the fourth toe" EXACT [] is_a: HP:0100367 ! Short phalanx of the 4th toe is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe property_value: HP:0040005 "Developmental hypoplasia of the `distal phalanx of fourth toe` (FMA:32630)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100391 name: Short distal phalanx of the 5th toe def: "Developmental hypoplasia of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Hypoplastic/small distal phalanx of the 5th toe" EXACT [] synonym: "Short distal phalanx of the fifth toe" EXACT [] is_a: HP:0100368 ! Short phalanx of the 5th toe is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe property_value: HP:0040005 "Developmental hypoplasia of the `distal phalanx of little toe` (FMA:32631)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100392 name: Short middle phalanx of the 3rd toe def: "Developmental hypoplasia of the middle phalanx of third toe." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 3rd toe" EXACT [] synonym: "Short middle phalanx of the third toe" EXACT [] is_a: HP:0100366 ! Short phalanx of the 3rd toe is_a: HP:0100372 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd toe property_value: HP:0040005 "Developmental hypoplasia of the `middle phalanx of third toe` (FMA:32624)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100393 name: Short middle phalanx of the 4th toe def: "Developmental hypoplasia of the middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Hypoplastic/small middle phalanx of the 4th toe" EXACT [] synonym: "Short middle phalanx of the fourth toe" EXACT [] is_a: HP:0100367 ! Short phalanx of the 4th toe is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe property_value: HP:0040005 "Developmental hypoplasia of the `middle phalanx of fourth toe` (FMA:32625)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100394 name: Short middle phalanx of the 5th toe def: "Developmental hypoplasia of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Hypoplastic/small middle phalanx of the 5th toe" EXACT [] synonym: "Short middle phalanx of the fifth toe" EXACT [] is_a: HP:0100368 ! Short phalanx of the 5th toe is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe [Term] id: HP:0100395 name: Short proximal phalanx of the 3rd toe def: "Abnormal reduction in length of proximal phalanx of third toe." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the 3rd toe" EXACT [] synonym: "Short proximal phalanx of the third toe" EXACT [] is_a: HP:0100366 ! Short phalanx of the 3rd toe is_a: HP:0100375 ! Aplasia/hypoplasia of the proximal phalanx of the 3rd toe property_value: HP:0040005 "Abnormal reduction in length of `proximal phalanx of third toe` (FMA:32619)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100396 name: Short proximal phalanx of the 4th toe alt_id: HP:0005628 def: "Developmental hypoplasia of the proximal phalanx of fourth toe." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the 4th toe" EXACT [] synonym: "Short fourth toe proximal phalanx" EXACT [] synonym: "Short proximal phalanx of the fourth toe" EXACT [] is_a: HP:0100367 ! Short phalanx of the 4th toe is_a: HP:0100376 ! Aplasia/hypoplasia of the proximal phalanx of the 4th toe property_value: HP:0040005 "Developmental hypoplasia of the `proximal phalanx of fourth toe` (FMA:32620)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100397 name: Short proximal phalanx of the 5th toe def: "Developmental hypoplasia of the proximal phalanx of fifth toe." [HPO:probinson] synonym: "Hypoplastic/small proximal phalanx of the 5th toe" EXACT [] synonym: "Short proximal phalanx of the fifth toe" EXACT [] is_a: HP:0100368 ! Short phalanx of the 5th toe is_a: HP:0100377 ! Aplasia/hypoplasia of the proximal phalanx of the 5th toe property_value: HP:0040005 "Developmental hypoplasia of the `proximal phalanx of fifth toe` (FMA:32621)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100398 name: Duplication of the distal phalanx of the 3rd toe def: "Partial or complete duplication of distal phalanx of third toe." [HPO:probinson] synonym: "Duplication of the distal phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the distal phalanx of the 3rd toe" EXACT [] is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe property_value: HP:0040005 "Partial or complete duplication of `distal phalanx of third toe` (FMA:32629)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100399 name: Duplication of the distal phalanx of the 4th toe def: "Partial or complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Duplication of the distal phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the distal phalanx of the 4th toe" EXACT [] is_a: HP:0010379 ! Duplication of phalanx of the 4th toe is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe property_value: HP:0040005 "Partial or complete duplication of the `distal phalanx of fourth toe` (FMA:32630)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100400 name: Duplication of the distal phalanx of the 5th toe def: "Partial or complete duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Duplication of the distal phalanx of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the distal phalanx of the 5th toe" EXACT [] is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe property_value: HP:0040005 "Partial or complete duplication of the `distal phalanx of little toe` (FMA:32631)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100401 name: Duplication of the middle phalanx of the 3rd toe def: "Partial or complete duplication of middle phalanx of third toe." [HPO:sdoelken] synonym: "Duplication of the middle phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 3rd toe" EXACT [] is_a: HP:0010202 ! Duplication of middle phalanx of toe is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe property_value: HP:0040005 "Partial or complete duplication of `middle phalanx of third toe` (FMA:32624)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100402 name: Duplication of the middle phalanx of the 4th toe def: "Partial or complete duplication of middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Duplication of the middle phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 4th toe" EXACT [] is_a: HP:0010379 ! Duplication of phalanx of the 4th toe is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe property_value: HP:0040005 "Partial or complete duplication of `middle phalanx of fourth toe` (FMA:32625)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100403 name: Duplication of the middle phalanx of the 5th toe def: "Partial or complete duplication of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Duplication of the middle phalanx of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the middle phalanx of the 5th toe" EXACT [] is_a: HP:0010202 ! Duplication of middle phalanx of toe is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100404 name: Duplication of the proximal phalanx of the 3rd toe def: "Partial or complete duplication of proximal phalanx of third toe." [HPO:sdoelken] synonym: "Duplication of the proximal phalanx of the third toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 3rd toe" EXACT [] is_a: HP:0010211 ! Duplication of proximal phalanx of toe is_a: HP:0010367 ! Duplication of phalanx of the 3rd toe is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe property_value: HP:0040005 "Partial or complete duplication of `proximal phalanx of third toe` (FMA:32619)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100405 name: Duplication of the proximal phalanx of the 4th toe def: "Partial or complete duplication of the proximal phalanx of fourth toe." [HPO:sdoelken] synonym: "Duplication of the proximal phalanx of the fourth toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 4th toe" EXACT [] is_a: HP:0010211 ! Duplication of proximal phalanx of toe is_a: HP:0010379 ! Duplication of phalanx of the 4th toe is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe property_value: HP:0040005 "Partial or complete duplication of the `proximal phalanx of fourth toe` (FMA:32620)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100406 name: Duplication of the proximal phalanx of the 5th toe def: "Partial or complete duplication of the proximal phalanx of fifth toe." [HPO:probinson] synonym: "Duplication of the proximal phalanx of the fifth toe" EXACT [] synonym: "Partial/complete duplication of the proximal phalanx of the 5th toe" EXACT [] is_a: HP:0010391 ! Duplication of the phalanges of the 5th toe is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe property_value: HP:0040005 "Partial or complete duplication of the `proximal phalanx of fifth toe` (FMA:32621)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100407 name: Complete duplication of the distal phalanx of the 3rd toe def: "Complete duplication of distal phalanx of third toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the third toe" EXACT [] is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe property_value: HP:0040005 "Complete duplication of `distal phalanx of third toe` (FMA:32629)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100408 name: Complete duplication of the distal phalanx of the 4th toe def: "Complete duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the fourth toe" EXACT [] is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe property_value: HP:0040005 "Complete duplication of the `distal phalanx of fourth toe` (FMA:32630)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100409 name: Complete duplication of the distal phalanx of the 5th toe def: "Complete duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Complete duplication of the distal phalanx of the fifth toe" EXACT [] is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe property_value: HP:0040005 "Complete duplication of the `distal phalanx of little toe` (FMA:32631)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100410 name: Complete duplication of the middle phalanx of the 3rd toe def: "Complete duplication of middle phalanx of third toe." [HPO:sdoelken] synonym: "Complete duplication of the middle phalanx of the third toe" EXACT [] is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe property_value: HP:0040005 "Complete duplication of `middle phalanx of third toe` (FMA:32624)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100411 name: Complete duplication of the middle phalanx of the 4th toe def: "Complete duplication of middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Complete duplication of the middle phalanx of the fourth toe" EXACT [] is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe property_value: HP:0040005 "Complete duplication of `middle phalanx of fourth toe` (FMA:32625)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100412 name: Complete duplication of the middle phalanx of the 5th toe def: "Complete duplication of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Complete duplication of the middle phalanx of the fifth toe" EXACT [] is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe [Term] id: HP:0100413 name: Complete duplication of the proximal phalanx of the 3rd toe def: "Partial or complete duplication of proximal phalanx of third toe." [HPO:sdoelken] is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe property_value: HP:0040005 "Partial or complete duplication of `proximal phalanx of third toe` (FMA:32619)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100414 name: Complete duplication of the proximal phalanx of the 4th toe is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe [Term] id: HP:0100415 name: Complete duplication of the proximal phalanx of the 5th toe def: "Complete duplication of the proximal phalanx of fifth toe." [HPO:sdoelken] synonym: "Complete duplication of the proximal phalanx of the fifth toe" EXACT [] is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe property_value: HP:0040005 "Complete duplication of the `proximal phalanx of fifth toe` (FMA:32621)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100416 name: Partial duplication of the distal phalanx of the 3rd toe def: "Partial duplication of distal phalanx of third toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the third toe" EXACT [] is_a: HP:0100398 ! Duplication of the distal phalanx of the 3rd toe property_value: HP:0040005 "Partial duplication of `distal phalanx of third toe` (FMA:32629)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100417 name: Partial duplication of the distal phalanx of the 4th toe def: "Partial duplication of the distal phalanx of fourth toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the fourth toe" EXACT [] is_a: HP:0100399 ! Duplication of the distal phalanx of the 4th toe property_value: HP:0040005 "Partial duplication of the `distal phalanx of fourth toe` (FMA:32630)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100418 name: Partial duplication of the distal phalanx of the 5th toe def: "Partial duplication of the distal phalanx of little toe." [HPO:sdoelken] synonym: "Partial duplication of the distal phalanx of the fifth toe" EXACT [] is_a: HP:0100400 ! Duplication of the distal phalanx of the 5th toe property_value: HP:0040005 "Partial duplication of the `distal phalanx of little toe` (FMA:32631)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100419 name: Partial duplication of the middle phalanx of the 3rd toe def: "Partial duplication of middle phalanx of third toe." [HPO:probinson] synonym: "Partial duplication of the middle phalanx of the third toe" EXACT [] is_a: HP:0100401 ! Duplication of the middle phalanx of the 3rd toe property_value: HP:0040005 "Partial duplication of `middle phalanx of third toe` (FMA:32624)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100420 name: Partial duplication of the middle phalanx of the 4th toe def: "Partial duplication of middle phalanx of fourth toe." [HPO:sdoelken] synonym: "Partial duplication of the middle phalanx of the fourth toe" EXACT [] is_a: HP:0100402 ! Duplication of the middle phalanx of the 4th toe property_value: HP:0040005 "Partial duplication of `middle phalanx of fourth toe` (FMA:32625)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100421 name: Partial duplication of the middle phalanx of the 5th toe def: "Partial duplication of the middle phalanx of the 5th toe." [HPO:probinson] synonym: "Partial duplication of the middle phalanx of the fifth toe" EXACT [] is_a: HP:0100403 ! Duplication of the middle phalanx of the 5th toe [Term] id: HP:0100422 name: Partial duplication of the proximal phalanx of the 3rd toe def: "Partial duplication of proximal phalanx of third toe." [HPO:probinson] synonym: "Partial duplication of the proximal phalanx of the third toe" EXACT [] is_a: HP:0100404 ! Duplication of the proximal phalanx of the 3rd toe property_value: HP:0040005 "Partial duplication of `proximal phalanx of third toe` (FMA:32619)." xsd:string {xref="HPO:probinson"} [Term] id: HP:0100423 name: Partial duplication of the proximal phalanx of the 4th toe is_a: HP:0100405 ! Duplication of the proximal phalanx of the 4th toe [Term] id: HP:0100424 name: Partial duplication of the proximal phalanx of the 5th toe def: "Partial duplication of the proximal phalanx of fifth toe." [HPO:sdoelken] synonym: "Partial duplication of the proximal phalanx of the fifth toe" EXACT [] is_a: HP:0100406 ! Duplication of the proximal phalanx of the 5th toe property_value: HP:0040005 "Partial duplication of the `proximal phalanx of fifth toe` (FMA:32621)." xsd:string {xref="HPO:sdoelken"} [Term] id: HP:0100425 name: Broad middle phalanx of the 3rd toe is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010360 ! Broad phalanges of the 3rd toe is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100426 name: Broad middle phalanx of the 4th toe is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010372 ! Broad phalanges of the 4th toe is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100427 name: Broad middle phalanx of the 5th toe is_a: HP:0010195 ! Broad middle phalanges of the toes is_a: HP:0010384 ! Broad phalanges of the 5th toe is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100428 name: Broad proximal phalanx of the 3rd toe is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010360 ! Broad phalanges of the 3rd toe is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100429 name: Broad proximal phalanx of the 4th toe is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010372 ! Broad phalanges of the 4th toe is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100430 name: Broad proximal phalanx of the 5th toe is_a: HP:0010204 ! Broad proximal phalanx of toe is_a: HP:0010384 ! Broad phalanges of the 5th toe is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100431 name: Broad distal phalanx of the 3rd toe is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010360 ! Broad phalanges of the 3rd toe is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100432 name: Broad distal phalanx of the 4th toe is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010372 ! Broad phalanges of the 4th toe is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100433 name: Broad distal phalanx of the 5th toe is_a: HP:0010186 ! Broad distal phalanx of the toes is_a: HP:0010384 ! Broad phalanges of the 5th toe is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100434 name: Bullet-shaped middle phalanx of the 3rd toe def: "An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx [Term] id: HP:0100435 name: Bullet-shaped middle phalanx of the 4th toe def: "An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx [Term] id: HP:0100436 name: Bullet-shaped middle phalanx of the 5th toe def: "An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx [Term] id: HP:0100437 name: Bullet-shaped proximal phalanx of the 3rd toe def: "An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx [Term] id: HP:0100438 name: Bullet-shaped proximal phalanx of the 4th toe def: "An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx [Term] id: HP:0100439 name: Bullet-shaped proximal phalanx of the 5th toe def: "An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010205 ! Bullet-shaped proximal toe phalanx is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx [Term] id: HP:0100440 name: Bullet-shaped distal phalanx of the 3rd toe def: "An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010361 ! Bullet-shaped 3rd toe phalanx [Term] id: HP:0100441 name: Bullet-shaped distal phalanx of the 4th toe def: "An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010373 ! Bullet-shaped 4th toe phalanx [Term] id: HP:0100442 name: Bullet-shaped distal phalanx of the 5th toe def: "An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:probinson] is_a: HP:0010385 ! Bullet-shaped 5th toe phalanx [Term] id: HP:0100443 name: Curved middle phalanx of the 3rd toe def: "A deviation from the normal straight form of the middle phalanx of the third toe." [HPO:probinson] is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100444 name: Curved middle phalanx of the 4th toe def: "A deviation from the normal straight form of the middle phalanx of the fourth toe." [HPO:probinson] is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100445 name: Curved middle phalanx of the 5th toe def: "A deviation from the normal straight form of the middle phalanx of the fifth toe." [HPO:probinson] is_a: HP:0010197 ! Curved middle toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx is_a: HP:0010393 ! Abnormality of the middle phalanx of the 5th toe [Term] id: HP:0100446 name: Curved proximal phalanx of the 3rd toe def: "A deviation from the normal straight form of the proximal phalanx of the third toe." [HPO:probinson] is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100447 name: Curved proximal phalanx of the 4th toe def: "A deviation from the normal straight form of the proximal phalanx of the fourth toe." [HPO:probinson] is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100448 name: Curved proximal phalanx of the 5th toe def: "A deviation from the normal straight form of the proximal phalanx of the fifth toe." [HPO:probinson] is_a: HP:0010206 ! Curved proximal toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100449 name: Curved distal phalanx of the 3rd toe def: "A deviation from the normal straight form of the distal phalanx of the third toe." [HPO:probinson] is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010362 ! Curved 3rd toe phalanx is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100450 name: Curved distal phalanx of the 4th toe def: "A deviation from the normal straight form of the distal phalanx of the fourth toe." [HPO:probinson] is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010374 ! Curved 4th toe phalanx is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100451 name: Curved distal phalanx of the 5th toe def: "A deviation from the normal straight form of the distal phalanx of the fifth toe." [HPO:probinson] is_a: HP:0010188 ! Curved distal toe phalanx is_a: HP:0010386 ! Curved 5th toe phalanx is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100452 name: Osteolytic defects of the middle phalanx of the 3rd toe is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe [Term] id: HP:0100453 name: Osteolytic defects of the middle phalanx of the 4th toe is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe [Term] id: HP:0100454 name: Osteolytic defects of the middle phalanx of the 5th toe is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100455 name: Osteolytic defects of the proximal phalanx of the 3rd toe is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe [Term] id: HP:0100456 name: Osteolytic defects of the proximal phalanx of the 4th toe is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe [Term] id: HP:0100457 name: Osteolytic defects of the proximal phalanx of the 5th toe is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100458 name: Osteolytic defects of the distal phalanx of the 3rd toe is_a: HP:0010363 ! Osteolytic defects of the phalanges of the 3rd toe [Term] id: HP:0100459 name: Osteolytic defects of the distal phalanx of the 4th toe is_a: HP:0010375 ! Osteolytic defects of the phalanges of the 4th toe [Term] id: HP:0100460 name: Osteolytic defects of the distal phalanx of the 5th toe is_a: HP:0010387 ! Osteolytic defects of the phalanges of the 5th toe [Term] id: HP:0100461 name: Patchy sclerosis of the middle phalanx of the 3rd toe is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx is_a: HP:0100936 ! Sclerosis of the middle phalanx of the 3rd toe [Term] id: HP:0100462 name: Patchy sclerosis of the middle phalanx of the 4th toe def: "Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx is_a: HP:0100937 ! Sclerosis of the middle phalanx of the 4th toe [Term] id: HP:0100463 name: Patchy sclerosis of the middle phalanx of the 5th toe def: "Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] is_a: HP:0010199 ! Patchy sclerosis of middle toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx is_a: HP:0100938 ! Sclerosis of the middle phalanx of the 5th toe [Term] id: HP:0100464 name: Patchy sclerosis of the proximal phalanx of the 3rd toe is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx is_a: HP:0100932 ! Sclerosis of the proximal phalanx of the 3rd toe [Term] id: HP:0100465 name: Patchy sclerosis of the proximal phalanx of the 4th toe def: "Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx is_a: HP:0100933 ! Sclerosis of the proximal phalanx of the 4th toe [Term] id: HP:0100466 name: Patchy sclerosis of the proximal phalanx of the 5th toe def: "Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] is_a: HP:0010208 ! Patchy sclerosis of proximal toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx is_a: HP:0100934 ! Sclerosis of the proximal phalanx of the 5th toe [Term] id: HP:0100467 name: Patchy sclerosis of the distal phalanx of the 3rd toe is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010364 ! Patchy sclerosis of 3rd toe phalanx is_a: HP:0100940 ! Sclerosis of the distal phalanx of the 3rd toe [Term] id: HP:0100468 name: Patchy sclerosis of the distal phalanx of the 4th toe def: "Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010376 ! Patchy sclerosis of 4th toe phalanx is_a: HP:0100941 ! Sclerosis of the distal phalanx of the 4th toe [Term] id: HP:0100469 name: Patchy sclerosis of the distal phalanx of the 5th toe def: "Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:probinson] is_a: HP:0010190 ! Patchy sclerosis of distal toe phalanx is_a: HP:0010388 ! Patchy sclerosis of 5th toe phalanx is_a: HP:0100942 ! Sclerosis of the distal phalanx of the 5th toe [Term] id: HP:0100470 name: Symphalangism affecting the middle phalanx of the 3rd toe is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe [Term] id: HP:0100471 name: Symphalangism affecting the middle phalanx of the 4th toe is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe [Term] id: HP:0100472 name: Symphalangism affecting the middle phalanx of the 5th toe is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe [Term] id: HP:0100473 name: Symphalangism affecting the proximal phalanx of the 3rd toe is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe [Term] id: HP:0100474 name: Symphalangism affecting the proximal phalanx of the 4th toe is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe [Term] id: HP:0100475 name: Symphalangism affecting the proximal phalanx of the 5th toe is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe [Term] id: HP:0100476 name: Symphalangism affecting the distal phalanx of the 3rd toe is_a: HP:0001859 ! Distal symphalangism (feet) is_a: HP:0010365 ! Symphalangism affecting the phalanges of the 3rd toe is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe [Term] id: HP:0100477 name: Symphalangism affecting the distal phalanx of the 4th toe is_a: HP:0001859 ! Distal symphalangism (feet) is_a: HP:0010377 ! Symphalangism affecting the phalanges of the 4th toe is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe [Term] id: HP:0100478 name: Symphalangism affecting the distal phalanx of the 5th toe is_a: HP:0001859 ! Distal symphalangism (feet) is_a: HP:0010389 ! Symphalangism affecting the phalanges of the 5th toe is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe [Term] id: HP:0100480 name: Proximal/middle symphalangism of 3rd toe def: "Bony fusion of the middle and proximal phalanges of the 3rd toe." [HPO:sdoelken] synonym: "Symphalangism of the middle and proximal phalanges of the 3rd toe" EXACT [] is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe is_a: HP:0100237 ! Proximal symphalangism (feet) is_a: HP:0100470 ! Symphalangism affecting the middle phalanx of the 3rd toe is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe [Term] id: HP:0100481 name: Proximal/middle symphalangism of 4th toe def: "Bony fusion of the middle and proximal phalanges of the 4th toe." [HPO:sdoelken] synonym: "Symphalangism of the middle and proximal phalanges of the 4th toe" EXACT [] is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe is_a: HP:0100237 ! Proximal symphalangism (feet) is_a: HP:0100471 ! Symphalangism affecting the middle phalanx of the 4th toe is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe [Term] id: HP:0100482 name: Proximal/middle symphalangism of 5th toe def: "Bony fusion of the middle and proximal phalanges of the 5th toe." [HPO:sdoelken] synonym: "Symphalangism of the middle and proximal phalanges of the 5th toe" EXACT [] is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe is_a: HP:0100237 ! Proximal symphalangism (feet) is_a: HP:0100472 ! Symphalangism affecting the middle phalanx of the 5th toe is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe [Term] id: HP:0100483 name: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal is_a: HP:0001440 ! Synostosis involving metatarsal bones is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe is_a: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe [Term] id: HP:0100484 name: Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal is_a: HP:0001440 ! Synostosis involving metatarsal bones is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe is_a: HP:0100473 ! Symphalangism affecting the proximal phalanx of the 3rd toe [Term] id: HP:0100485 name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal is_a: HP:0001440 ! Synostosis involving metatarsal bones is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe is_a: HP:0100474 ! Symphalangism affecting the proximal phalanx of the 4th toe [Term] id: HP:0100486 name: Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal is_a: HP:0001440 ! Synostosis involving metatarsal bones is_a: HP:0010378 ! Triangular shaped phalanges of the 4th toe is_a: HP:0100475 ! Symphalangism affecting the proximal phalanx of the 5th toe [Term] id: HP:0100487 name: Triangular shaped distal phalanx of the 5th toe is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe [Term] id: HP:0100488 name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal is_a: HP:0001440 ! Synostosis involving metatarsal bones is_a: HP:0010073 ! Synostosis involving the 1st metatarsal is_a: HP:0010091 ! Symphalangism affecting the proximal phalanx of the hallux is_a: HP:0010209 ! Symphalangism affecting the proximal phalanges of the toes is_a: HP:0100237 ! Proximal symphalangism (feet) created_by: doelkens creation_date: 2010-11-18T06:24:21Z [Term] id: HP:0100489 name: Proximal/middle symphalangism of 2nd toe alt_id: HP:0100479 def: "Bony fusion of the middle and proximal phalanges of the 2nd toe." [HPO:sdoelken] synonym: "Symphalangism of the middle and proximal phalanges of the 2nd toe" EXACT [] is_a: HP:0010366 ! Triangular shaped phalanges of the 3rd toe is_a: HP:0010401 ! Symphalangism affecting the proximal phalanx of the 2nd toe is_a: HP:0010410 ! Symphalangism affecting the middle phalanx of the 2nd toe is_a: HP:0100237 ! Proximal symphalangism (feet) created_by: doelkens creation_date: 2010-11-18T06:49:16Z [Term] id: HP:0100490 name: Camptodactyly of finger alt_id: HP:0005651 alt_id: HP:0005662 alt_id: HP:0005713 alt_id: HP:0005801 alt_id: HP:0005821 alt_id: HP:0006195 alt_id: HP:0006218 alt_id: HP:0006240 alt_id: HP:0009698 def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension." [HPO:sdoelken, pmid:19125433] comment: Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified. synonym: "Camptodactyly (hands)" EXACT [] synonym: "Camptodactyly of proximal interphalangeal joint" EXACT [] synonym: "Contractures of the proximal interphalangeal joints of the fingers" EXACT [] synonym: "Flexion contractures of proximal interphalangeal joints" EXACT [] synonym: "Proximal interphalangeal finger joint contractures" EXACT [] is_a: HP:0001220 ! Interphalangeal joint contracture of finger is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand is_a: HP:0012385 ! Camptodactyly is_a: HP:0012785 ! Flexion contracture of finger created_by: doelkens creation_date: 2010-12-14T10:46:57Z [Term] id: HP:0100491 name: Abnormality of lower limb joint alt_id: HP:0100239 synonym: "Abnormality of the joints of the lower limbs" EXACT [] is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0002814 ! Abnormality of the lower limb created_by: doelkens creation_date: 2010-12-14T10:58:11Z [Term] id: HP:0100492 name: Joint contractures involving the joints of the feet def: "Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue." [HPO:sdoelken] is_a: HP:0001371 ! Flexion contracture is_a: HP:0100491 ! Abnormality of lower limb joint created_by: doelkens creation_date: 2010-12-14T11:03:38Z [Term] id: HP:0100493 name: Hypoammonemia def: "A decreased concentration of ammonia in the blood." [HPO:gcarletti] is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis property_value: HP:0040005 "A decreased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670)." xsd:string {xref="HPO:gcarletti"} created_by: doelkens creation_date: 2010-12-17T03:54:51Z [Term] id: HP:0100494 name: Abnormality of mast cells def: "An abnormality of mast cells." [HPO:sdoelken] comment: Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. synonym: "Abnormality of mastocytes" EXACT [] is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0010974 ! Abnormality of myeloid leukocytes is_a: HP:0010987 ! Abnormality of cellular immune system property_value: HP:0040005 "An abnormality of `mast cells` (CL:0000097)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-17T04:02:08Z [Term] id: HP:0100495 name: Mastocytosis def: "The presence of an increased number of mast cells and CD34+ mast cell precursors in the body." [HPO:sdoelken] xref: MeSH:D008415 "Mastocytosis" is_a: HP:0100494 ! Abnormality of mast cells property_value: HP:0040005 "The presence of an increased number of `mast cells` (CL:0000097) and CD34+ mast cell precursors in the body." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-17T04:06:36Z [Term] id: HP:0100496 name: Abnormality of the vitamin B3 metabolism comment: Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T04:13:00Z [Term] id: HP:0100497 name: Vitamin B3 deficiency is_a: HP:0100496 ! Abnormality of the vitamin B3 metabolism created_by: doelkens creation_date: 2010-12-17T04:14:51Z [Term] id: HP:0100498 name: Deviation of toes is_a: HP:0001780 ! Abnormality of toe created_by: doelkens creation_date: 2010-12-17T04:25:31Z [Term] id: HP:0100499 name: Tibial deviation of toes synonym: "Medial deviation of toes" EXACT [] is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2010-12-17T04:25:59Z [Term] id: HP:0100500 name: Fibular deviation of toes synonym: "Lateral deviation of toes" EXACT [] is_a: HP:0100498 ! Deviation of toes created_by: doelkens creation_date: 2010-12-17T04:26:14Z [Term] id: HP:0100501 name: Recurrent bronchiolitis def: "An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis." [HPO:probinson] is_a: HP:0002837 ! Recurrent bronchitis created_by: doelkens creation_date: 2010-12-17T05:58:08Z [Term] id: HP:0100502 name: Vitamin B12 deficiency is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism created_by: doelkens creation_date: 2010-12-17T06:00:43Z [Term] id: HP:0100503 name: Vitamin B1 deficiency is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100504 name: Vitamin B2 deficiency is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100505 name: Vitamin B5 deficiency is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100506 name: Vitamin B8 deficiency is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100507 name: Folate deficiency def: "A reduced concentration of folic acid, which is also known as vitamin B9." [HPO:probinson] synonym: "Vitamin B9 deficiency" EXACT [] is_a: HP:0012335 ! Abnormality of folate metabolism property_value: HP:0040005 "A reduced concentration of `folic acid` (CHEBI:27470), which is also known as vitamin B9." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100508 name: Abnormality of vitamin metabolism def: "An anomaly in the metabolism of a vitamin." [HPO:probinson] comment: Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: doelkens creation_date: 2010-12-17T06:17:22Z [Term] id: HP:0100509 name: Abnormality of vitamin C metabolism is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2010-12-17T06:18:32Z [Term] id: HP:0100510 name: Vitamin C deficiency is_a: HP:0100509 ! Abnormality of vitamin C metabolism created_by: doelkens creation_date: 2010-12-17T06:18:50Z [Term] id: HP:0100511 name: Abnormality of vitamin D metabolism is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2010-12-17T06:19:15Z [Term] id: HP:0100512 name: Vitamin D deficiency xref: MeSH:D014808 "Vitamin D Deficiency" is_a: HP:0100511 ! Abnormality of vitamin D metabolism created_by: doelkens creation_date: 2010-12-17T06:19:35Z [Term] id: HP:0100513 name: Vitamin E deficiency xref: MeSH:D014811 "Vitamin E Deficiency" is_a: HP:0100514 ! Abnormality of vitamin E metabolism created_by: doelkens creation_date: 2010-12-17T06:20:12Z [Term] id: HP:0100514 name: Abnormality of vitamin E metabolism is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2010-12-17T06:20:30Z [Term] id: HP:0100515 name: Pollakisuria def: "Increased frequency of urination." [HPO:probinson] is_a: HP:0000009 ! Functional abnormality of the bladder created_by: doelkens creation_date: 2010-12-20T10:34:28Z [Term] id: HP:0100516 name: Neoplasm of the ureter def: "The presence of a neoplasm of the ureter." [HPO:probinson] synonym: "Neoplasia of the ureters" RELATED [] synonym: "ureter, cancer of" RELATED [] is_a: HP:0000069 ! Abnormality of the ureter is_a: HP:0010786 ! Urinary tract neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `ureter` (FMA:9704)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T10:35:11Z [Term] id: HP:0100517 name: Neoplasm of the urethra def: "The presence of a neoplasm of the urethra." [HPO:probinson] synonym: "Neoplasia of the urethra" RELATED [] is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0010786 ! Urinary tract neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `urethra` (FMA:19667)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T10:36:17Z [Term] id: HP:0100518 name: Dysuria def: "Painful or difficult urination." [HPO:probinson] xref: MeSH:D053159 "Dysuria" is_a: HP:0000009 ! Functional abnormality of the bladder property_value: HP:0040005 "Painful or difficult `urination` (GO:0060073)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T10:40:36Z [Term] id: HP:0100519 name: Anuria def: "Absence of urine, clinically classified as below 50ml/day." [HPO:sdoelken] xref: MeSH:D001002 "Anuria" is_a: HP:0011037 ! Decreased urine output created_by: doelkens creation_date: 2010-12-20T10:41:00Z [Term] id: HP:0100520 name: Oliguria def: "Low output of urine, clinically classified as an output below 300-500ml/day." [HPO:sdoelken] comment: The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention. xref: MeSH:D009846 "Oliguria" xref: UMLS:C0028961 "Oliguria" is_a: HP:0011037 ! Decreased urine output created_by: doelkens creation_date: 2010-12-20T10:42:40Z [Term] id: HP:0100521 name: Neoplasm of the thymus def: "A tumor (abnormal growth of tissue) of the thymus." [HPO:probinson] is_a: HP:0000777 ! Abnormality of the thymus is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A benign or malignant `neoplasm` (MPATH:218) (tumour) originating in the `thymus` (FMA:9607)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T11:02:03Z [Term] id: HP:0100522 name: Thymoma def: "A tumor originating from the epithelial cells of the thymus." [HPO:sdoelken] comment: Malignant lymphomas that involve the thymus, such as lymphoblastic lymphoma and Hodgkin lymphoma (erroneously termed "granulomatous thymoma" in the past), should not be regarded as thymomas. Thymoma is an uncommon tumor, best known for its association with the neuromuscular disorder myasthenia gravis. Thymoma is found in 15% of patients with myasthenia gravis. xref: MeSH:D013945 "Thymoma" is_a: HP:0100521 ! Neoplasm of the thymus property_value: HP:0040005 "A tumor originating from the epithelial cells of the `thymus` (FMA:9607)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-20T11:02:22Z [Term] id: HP:0100523 name: Liver abscess def: "The presence of an abscess of the liver." [HPO:probinson] synonym: "Hepatic abscess" EXACT [] xref: MeSH:D008100 "Liver Abscess" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002722 ! Recurrent abscess formation property_value: HP:0040005 "The presence of an `abscess` (MPATH:608) of the `liver` (FMA:7197)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T11:13:14Z [Term] id: HP:0100524 name: Limb duplication subset: hposlim_core synonym: "Dimelia" EXACT [] xref: SNOMEDCT:34488005 "Dimelia" xref: UMLS:C0265551 "Dimelia" is_a: HP:0002813 ! Abnormality of limb bone morphology created_by: doelkens creation_date: 2010-12-20T11:32:41Z [Term] id: HP:0100525 name: Urachus fistula def: "Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus." [Eurenomics:ewuehl] is_a: HP:0010478 ! Abnormality of the urachus created_by: doelkens creation_date: 2010-12-20T11:40:58Z [Term] id: HP:0100526 name: Neoplasm of the lung def: "Tumor of the lung." [HPO:probinson] synonym: "Lung tumor" EXACT [] xref: MeSH:D008175 "Lung Neoplasms" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-20T11:47:12Z [Term] id: HP:0100527 name: Neoplasia of the pleura is_a: HP:0002103 ! Abnormality of the pleura is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-20T11:47:33Z [Term] id: HP:0100528 name: Pleuropulmonary blastoma def: "A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant." [HPO:sdoelken] is_a: HP:0100527 ! Neoplasia of the pleura is_a: HP:0100552 ! Neoplasm of the tracheobronchial system created_by: doelkens creation_date: 2010-12-20T11:48:57Z [Term] id: HP:0100529 name: Abnormality of phosphate homeostasis def: "An abnormality of phosphate homeostasis or concentration in the body." [HPO:probinson] is_a: HP:0003111 ! Abnormality of ion homeostasis property_value: HP:0040005 "An abnormality of `phosphate` (CHEBI:26020) homeostasis or concentration in the body." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T11:58:32Z [Term] id: HP:0100530 name: Abnormality of calcium-phosphate metabolism is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: doelkens creation_date: 2010-12-20T12:00:26Z [Term] id: HP:0100531 name: Wind-swept deformity of the knees def: "The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other." [HPO:sdoelken] is_a: HP:0002857 ! Genu valgum is_a: HP:0002970 ! Genu varum created_by: doelkens creation_date: 2010-12-20T12:43:09Z [Term] id: HP:0100532 name: Scleritis def: "Inflammation of the sclera." [HPO:probinson] comment: Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing. subset: hposlim_core xref: MeSH:D015423 "Scleritis" xref: UMLS:C0036416 "Scleritis" is_a: HP:0000591 ! Abnormality of the sclera is_a: HP:0100533 ! Inflammatory abnormality of the eye property_value: HP:0040005 "Inflammation of the `sclera` (FMA:58269)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T03:50:04Z [Term] id: HP:0100533 name: Inflammatory abnormality of the eye alt_id: HP:0007891 def: "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] synonym: "Ocular inflammation" EXACT [] is_a: HP:0012373 ! Abnormal eye physiology created_by: doelkens creation_date: 2010-12-20T03:53:42Z [Term] id: HP:0100534 name: Episcleritis def: "Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye." [HPO:probinson] subset: hposlim_core is_a: HP:0000591 ! Abnormality of the sclera is_a: HP:0100533 ! Inflammatory abnormality of the eye property_value: HP:0040005 "Inflammation of the `episclera` (FMA:58362), a thin layer of tissue covering the white part (sclera) of the eye." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T05:48:22Z [Term] id: HP:0100535 name: Tibiofibular diastasis is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0002992 ! Abnormality of the tibia created_by: doelkens creation_date: 2010-12-20T05:53:38Z [Term] id: HP:0100536 name: Abnormality of the fascia def: "An abnormality of fascia." [HPO:probinson] is_a: HP:0003549 ! Abnormality of connective tissue property_value: HP:0040005 "An abnormality of `fascia` (FMA:30318)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T05:58:56Z [Term] id: HP:0100537 name: Fasciitis def: "Inflammation of fascia." [HPO:probinson] xref: MeSH:D005208 "Fasciitis" xref: UMLS:C0015645 "Fasciitis" is_a: HP:0100536 ! Abnormality of the fascia property_value: HP:0040005 "`Inflammation` (MPATH:212) of `fascia` (FMA:30318)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T05:59:18Z [Term] id: HP:0100538 name: Abnormality of the supraorbital ridges def: "An anomaly of the supraorbital portion of the frontal bones." [HPO:probinson] is_a: HP:0000315 ! Abnormality of the orbital region created_by: doelkens creation_date: 2010-12-20T06:05:56Z [Term] id: HP:0100539 name: Periorbital edema def: "Edema affecting the region situated around the orbit of the eye." [HPO:probinson] xref: SNOMEDCT:49563000 "Periorbital edema" xref: UMLS:C0151205 "Periorbital edema" is_a: HP:0000282 ! Facial edema is_a: HP:0000606 ! Abnormality of the periorbital region created_by: doelkens creation_date: 2010-12-20T06:09:04Z [Term] id: HP:0100540 name: Palpebral edema alt_id: HP:0000626 def: "Edema in the region of the eyelids." [HPO:probinson] synonym: "Edema of the eyelids" EXACT [] synonym: "Eyelid edema" EXACT [] synonym: "Puffy eyelids" EXACT [] synonym: "Puffy lids" EXACT [] xref: UMLS:C0560024 "Puffy eyelids" is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0100539 ! Periorbital edema property_value: HP:0040005 "Edema in the region of the `eyelids` (FMA:75178)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T06:09:32Z [Term] id: HP:0100541 name: Femoral hernia def: "A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal." [HPO:sdoelken] comment: Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh. subset: hposlim_core synonym: "Crural hernia" EXACT [] xref: MEDRA:10016434 "Femoral hernia" xref: MeSH:D006550 "Hernia, Femoral" xref: SNOMEDCT:50063009 "Femoral hernia" xref: UMLS:C0019288 "Hernia, Femoral" is_a: HP:0004299 ! Hernia of the abdominal wall created_by: doelkens creation_date: 2010-12-20T06:16:40Z [Term] id: HP:0100542 name: Abnormal localization of kidney def: "An abnormal site of the kidney." [HPO:probinson] synonym: "Abnormal localisation of kidneys" EXACT [] is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "An abnormal site of the `kidney` (FMA:7203)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T06:43:50Z [Term] id: HP:0100543 name: Cognitive impairment alt_id: HP:0002128 alt_id: HP:0002129 alt_id: HP:0002302 alt_id: HP:0002337 alt_id: HP:0002441 alt_id: HP:0006972 alt_id: HP:0006998 alt_id: HP:0007211 def: "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken] synonym: "Abnormality of cognition" EXACT [] synonym: "Cognitive abnormality" EXACT [] synonym: "Cognitive defects" EXACT [] synonym: "Cognitive deficits" EXACT [] synonym: "Intellectual impairment" EXACT [] synonym: "Mental impairment" EXACT [] xref: UMLS:C0683322 "Intellectual impairment" xref: UMLS:C1856145 "Cognitive defects" is_a: HP:0011446 ! Abnormality of higher mental function created_by: doelkens creation_date: 2010-12-20T06:50:32Z [Term] id: HP:0100544 name: Neoplasm of the heart def: "A tumor (abnormal growth of tissue) of the heart." [HPO:probinson] synonym: "Cardiac neoplasia" RELATED [] synonym: "Cardiac neoplasm" EXACT [] xref: MeSH:D006338 "Heart Neoplasms" is_a: HP:0001627 ! Abnormality of cardiac morphology is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `heart` (FMA:7088)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-20T07:00:31Z [Term] id: HP:0100545 name: Arterial stenosis def: "Narrowing or constriction of the inner surface (lumen) of an artery." [HPO:probinson] is_a: HP:0005114 ! Abnormalities of the peripheral arteries created_by: doelkens creation_date: 2010-12-21T01:30:07Z [Term] id: HP:0100546 name: Carotid artery stenosis def: "Narrowing of the carotid arteries." [HPO:probinson] comment: Carotid artery stenosis is usually caused by caused by atherosclerosis. synonym: "Carotid stenosis" EXACT [] xref: MeSH:D016893 "Carotid Stenosis" is_a: HP:0005344 ! Abnormality of the carotid arteries is_a: HP:0100545 ! Arterial stenosis created_by: doelkens creation_date: 2010-12-21T01:31:46Z [Term] id: HP:0100547 name: Abnormality of forebrain morphology def: "An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle." [HPO:probinson] synonym: "Abnormality of the forebrain" EXACT [] is_a: HP:0012443 ! Abnormality of brain morphology property_value: HP:0040005 "An abnormality of the `forebrain` (FMA:61992), which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-21T02:12:53Z [Term] id: HP:0100548 name: Exstrophy def: "Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall." [HPO:probinson] is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: doelkens creation_date: 2010-12-21T02:20:01Z [Term] id: HP:0100550 name: Tendon rupture def: "Breakage (tear) of a tendon." [HPO:probinson] comment: Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon. synonym: "Rupture of tendons" EXACT [] synonym: "Ruptured tendon" EXACT [] is_a: HP:0100261 ! Abnormal tendon morphology created_by: doelkens creation_date: 2010-12-21T02:58:13Z [Term] id: HP:0100551 name: Neoplasm of the trachea alt_id: HP:0012291 def: "A neoplasm of the trachea." [] synonym: "Tracheal neoplasm" EXACT [] xref: MeSH:D014134 is_a: HP:0002778 ! Abnormality of the trachea is_a: HP:0100552 ! Neoplasm of the tracheobronchial system created_by: doelkens creation_date: 2010-12-21T03:44:37Z [Term] id: HP:0100552 name: Neoplasm of the tracheobronchial system is_a: HP:0005607 ! Abnormality of the tracheobronchial system is_a: HP:0100526 ! Neoplasm of the lung created_by: doelkens creation_date: 2010-12-21T03:46:30Z [Term] id: HP:0100553 name: Hemihypertrophy of lower limb def: "Overgrowth of only one leg." [HPO:probinson] is_a: HP:0001528 ! Hemihypertrophy is_a: HP:0010496 ! Hypertrophy of the lower limb is_a: HP:0100559 ! Lower limb asymmetry created_by: doelkens creation_date: 2010-12-21T03:58:40Z [Term] id: HP:0100554 name: Hemihypertrophy of upper limb def: "Overgrowth of only one arm." [HPO:probinson] is_a: HP:0001528 ! Hemihypertrophy is_a: HP:0010484 ! Hypertrophy of the upper limb is_a: HP:0100560 ! Upper limb asymmetry created_by: doelkens creation_date: 2010-12-21T03:58:55Z [Term] id: HP:0100555 name: Asymmetric growth def: "A growth pattern that displays an abnormal difference between the left and the right side." [HPO:probinson] is_a: HP:0001507 ! Growth abnormality created_by: doelkens creation_date: 2010-12-21T04:00:12Z [Term] id: HP:0100556 name: Hemiatrophy alt_id: HP:0005091 alt_id: HP:0200051 def: "Undergrowth of the limbs that affects only one side." [DDD:hfirth] synonym: "Asymmetric limb shortening" EXACT [] synonym: "Hemiatrophy of the body" EXACT [] xref: UMLS:C1844844 "Asymmetric limb shortening" is_a: HP:0009826 ! Limb undergrowth is_a: HP:0100555 ! Asymmetric growth created_by: doelkens creation_date: 2010-12-21T04:01:10Z [Term] id: HP:0100557 name: Hemiatrophy of lower limb def: "Unilateral atrophy (reduction in size) of a leg." [HPO:probinson] is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0100556 ! Hemiatrophy is_a: HP:0100559 ! Lower limb asymmetry created_by: doelkens creation_date: 2010-12-21T04:01:28Z [Term] id: HP:0100558 name: Hemiatrophy of upper limb alt_id: HP:0200052 def: "Unilateral atrophy (reduction in size) of an arm." [HPO:probinson] synonym: "Hemihypotrophy of upper limb" EXACT [] is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0100556 ! Hemiatrophy is_a: HP:0100560 ! Upper limb asymmetry created_by: doelkens creation_date: 2010-12-21T04:01:48Z [Term] id: HP:0100559 name: Lower limb asymmetry def: "A difference in length or diameter between the left and right leg." [HPO:probinson] synonym: "Leg length discrepancy" RELATED [] is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0100555 ! Asymmetric growth created_by: doelkens creation_date: 2010-12-21T04:04:27Z [Term] id: HP:0100560 name: Upper limb asymmetry def: "Difference in length or size between the right and left arm." [HPO:probinson] subset: hposlim_core is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0100555 ! Asymmetric growth created_by: doelkens creation_date: 2010-12-21T04:04:56Z [Term] id: HP:0100561 name: Spinal cord lesions is_a: HP:0002143 ! Abnormality of the spinal cord created_by: doelkens creation_date: 2010-12-21T04:34:03Z [Term] id: HP:0100562 name: Diplomyelia def: "Duplication of the spinal cord." [HPO:sdoelken] is_a: HP:0100561 ! Spinal cord lesions created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100563 name: Diastomatomyelia def: "Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum." [HPO:sdoelken] is_a: HP:0100561 ! Spinal cord lesions created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100564 name: Triplomyelia def: "Triplication of the spinal cord - extremely rare." [HPO:sdoelken] is_a: HP:0100561 ! Spinal cord lesions created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100565 name: Hydromyelia def: "Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo." [HPO:sdoelken] is_a: HP:0100561 ! Spinal cord lesions created_by: doelkens creation_date: 2010-12-21T04:35:22Z [Term] id: HP:0100566 name: Amyelia def: "Congenital absence of the spinal cord." [HPO:sdoelken] is_a: HP:0100561 ! Spinal cord lesions created_by: doelkens creation_date: 2010-12-21T04:41:35Z [Term] id: HP:0100568 name: Neoplasm of the endocrine system def: "A tumor (abnormal growth of tissue) of the endocrine system." [HPO:probinson] synonym: "Endocrine neoplasia" EXACT [] is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) (tumour) in the `endocrine system` (FMA:9668)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-21T04:55:15Z [Term] id: HP:0100569 name: Abnormal vertebral ossification def: "An abnormality of the formation and mineralization of one or more vertebrae." [HPO:probinson] synonym: "Abnormality of ossification/mineralisation of vertebrae" EXACT [] is_a: HP:0003336 ! Abnormal enchondral ossification is_a: HP:0003468 ! Abnormality of the vertebrae created_by: doelkens creation_date: 2010-12-21T04:50:43Z [Term] id: HP:0100570 name: Carcinoid def: "A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin." [HPO:sdoelkens] synonym: "Carcinoid tumor" EXACT [] synonym: "CARCINOID TUMORS" RELATED [HPO:skoehler] is_a: HP:0100568 ! Neoplasm of the endocrine system created_by: doelkens creation_date: 2010-12-21T04:57:15Z [Term] id: HP:0100571 name: Cardiac diverticulum def: "A cardiac diverticulum is a rare congential malformation which is either fibrous or muscular." [HPO:sdoelken] synonym: "Ventricular diverticulum" EXACT [] is_a: HP:0001713 ! Abnormality of cardiac ventricle created_by: doelkens creation_date: 2010-12-21T05:11:26Z [Term] id: HP:0100572 name: Fibrous cardiac diverticulum def: "A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly." [HPO:sdoelken] synonym: "Congenital vetricular aneurysm" EXACT [] is_a: HP:0006698 ! Ventricular aneurysm is_a: HP:0100571 ! Cardiac diverticulum created_by: doelkens creation_date: 2010-12-21T05:14:00Z [Term] id: HP:0100573 name: Muscular cardiac diverticulum is_a: HP:0100571 ! Cardiac diverticulum created_by: doelkens creation_date: 2010-12-21T05:14:00Z [Term] id: HP:0100574 name: Biliary tract neoplasm alt_id: HP:0030152 def: "A tumor (abnormal growth of tissue) of the biliary system." [HPO:probinson] synonym: "Neoplasia of the biliary tract" RELATED [] xref: MeSH:D001661 "Biliary Tract Neoplasms" is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `biliary system` (FMA:79646)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-21T05:18:27Z [Term] id: HP:0100575 name: Neoplasm of the gallbladder def: "The presence of a neoplasm of the gallbladder." [HPO:probinson] synonym: "Neoplasia of the gallbladder" RELATED [] is_a: HP:0012437 ! Abnormal gallbladder morphology is_a: HP:0100574 ! Biliary tract neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `gallbladder` (FMA:7202)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-21T05:18:44Z [Term] id: HP:0100576 name: Amaurosis fugax def: "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] subset: hposlim_core xref: MeSH:D020757 "Amaurosis fugax" is_a: HP:0000505 ! Visual impairment created_by: doelkens creation_date: 2010-12-27T12:42:59Z [Term] id: HP:0100577 name: Urinary bladder inflammation def: "Inflammation of the urinary bladder." [HPO:probinson] synonym: "Cystitis of the urinary bladder" EXACT [] is_a: HP:0000014 ! Abnormality of the bladder property_value: HP:0040005 "`Inflammation`(MPATH:212) of the `urinary bladder` (FMA:15900)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-27T12:49:16Z [Term] id: HP:0100578 name: Lipoatrophy def: "Localized loss of fat tissue." [HPO:sdoelken] comment: This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs. subset: hposlim_core xref: MEDRA:10024604 "Lipoatrophy" xref: SNOMEDCT:248315005 "Lipoatrophy" xref: UMLS:C1280433 "Lipoatrophy" is_a: HP:0009125 ! Lipodystrophy created_by: doelkens creation_date: 2010-12-27T12:55:33Z [Term] id: HP:0100579 name: Mucosal telangiectasiae def: "Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." [HPO:sdoelken] is_a: HP:0001009 ! Telangiectasia property_value: HP:0040005 "`Telangiectasia` (HP:0001009) of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-27T01:04:18Z [Term] id: HP:0100580 name: Barrett esophagus def: "An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system." [HPO:sdoelken] comment: The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer. synonym: "Barrett's esophagus" EXACT [] synonym: "Endobrachyesophagus" EXACT [] xref: MeSH:D001471 "Barrett Esophagus" is_a: HP:0100751 ! Esophageal neoplasm created_by: doelkens creation_date: 2010-12-27T01:33:00Z [Term] id: HP:0100581 name: Megacalicosis def: "A nonobstructive dilatation of the renal major calices due to malformation of the renal papillae." [HPO:sdoelken] is_a: HP:0011130 ! Abnormality of renal calyx morphology property_value: HP:0040005 "A nonobstructive dilatation of the renal `major calices` (FMA:15613) due to malformation of the renal papillae." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-27T02:44:04Z [Term] id: HP:0100582 name: Nasal polyposis alt_id: HP:0000462 def: "Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis." [HPO:sdoelken] synonym: "Nasal polyps" EXACT [] xref: MeSH:D009298 "Nasal Polyps" xref: SNOMEDCT:52756005 "Nasal polyp" xref: UMLS:C0027430 "Nasal Polyps" is_a: HP:0000433 ! Abnormality of the nasal mucosa created_by: doelkens creation_date: 2010-12-27T02:47:15Z [Term] id: HP:0100583 name: Corneal perforation alt_id: HP:0100793 def: "A rupture of the cornea through which a portion of the iris protrudes." [DDD:ncarter] synonym: "Iridocele" EXACT [] xref: MeSH:D057112 "Corneal Perforation" is_a: HP:0000481 ! Abnormality of the cornea created_by: doelkens creation_date: 2010-12-27T02:52:19Z [Term] id: HP:0100584 name: Endocarditis def: "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken] xref: MeSH:D004696 "Endocarditis" is_a: HP:0004306 ! Abnormality of the endocardium created_by: doelkens creation_date: 2010-12-27T02:57:48Z [Term] id: HP:0100585 name: Teleangiectasia of the skin def: "Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions." [HPO:probinson] is_a: HP:0001009 ! Telangiectasia created_by: doelkens creation_date: 2010-12-27T03:06:35Z [Term] id: HP:0100586 name: Aseptic leukocyturia def: "Leukocyturia without bacterial growth upon urine culture." [HPO:probinson] is_a: HP:0012085 ! Pyuria created_by: doelkens creation_date: 2010-12-27T03:09:12Z [Term] id: HP:0100587 name: Abnormality of the preputium is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-27T03:13:07Z [Term] id: HP:0100588 name: Paraphimosis def: "The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis." [HPO:sdoelken] xref: MeSH:D010263 "Paraphimosis" is_a: HP:0100587 ! Abnormality of the preputium created_by: doelkens creation_date: 2010-12-27T03:13:30Z [Term] id: HP:0100589 name: Urogenital fistula def: "The presence of a fistula affecting the genitourinary system." [HPO:probinson] is_a: HP:0000119 ! Abnormality of the genitourinary system property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) affecting the `genitourinary system` (FMA:280610)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-27T04:09:23Z [Term] id: HP:0100590 name: Rectal fistula def: "The presence of a fistula affecting the rectum." [HPO:probinson] xref: MeSH:D012003 "Rectal fistula" is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0100589 ! Urogenital fistula is_a: HP:0100819 ! Intestinal fistula property_value: HP:0040005 "The presence of a `fistula` (MPATH:70) affecting the `rectum` (FMA:14544)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-27T04:11:26Z [Term] id: HP:0100592 name: Peritoneal abscess def: "The presence of an abscess of the peritoneum." [HPO:probinson] is_a: HP:0002585 ! Abnormality of the peritoneum property_value: HP:0040005 "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-27T04:30:53Z [Term] id: HP:0100593 name: Calcification of cartilage is_a: HP:0002763 ! Abnormal cartilage morphology is_a: HP:0010766 ! Ectopic calcification created_by: doelkens creation_date: 2010-12-27T04:35:28Z [Term] id: HP:0100594 name: Esophageal web def: "Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare)." [HPO:sdoelken] subset: hposlim_core xref: SNOMEDCT:19216006 "Esophageal web" xref: UMLS:C0267080 "Esophageal web" is_a: HP:0002031 ! Abnormality of the esophagus created_by: doelkens creation_date: 2010-12-27T04:51:07Z [Term] id: HP:0100595 name: Camptocormia def: "An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders." [HPO:sdoelken] subset: hposlim_core xref: SNOMEDCT:13534001 "Camptocormia" xref: UMLS:C0264162 "Camptocormia" is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column created_by: doelkens creation_date: 2010-12-27T04:55:11Z [Term] id: HP:0100596 name: Absent nares alt_id: HP:0100597 def: "The nostrils (the paired channels of the nose) are not present." [HPO:probinson] synonym: "Abouphalia" EXACT [] synonym: "Aplasia/Hypoplasia of the nares" RELATED [] is_a: HP:0005288 ! Abnormality of the nares created_by: doelkens creation_date: 2010-12-27T05:07:16Z [Term] id: HP:0100598 name: Pulmonary edema def: "Fluid accumulation in the lungs." [HPO:sdoelken] synonym: "Lung edema" EXACT [] synonym: "Pulmonary oedema" EXACT [] xref: MeSH:D011654 "Pulmonary edema" is_a: HP:0000969 ! Edema is_a: HP:0002088 ! Abnormality of the lung created_by: doelkens creation_date: 2010-12-27T05:10:09Z [Term] id: HP:0100599 name: Bifid penis def: "Two penile structures, separated from the tip to the base of the shaft." [HPO:sdoelken, pmid:23650202] comment: In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation. synonym: "Diphallia" EXACT [] synonym: "Penile duplication" EXACT [] is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-27T05:17:57Z [Term] id: HP:0100600 name: Penoscrotal transposition def: "A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis." [HPO:sdoelken] synonym: "Prepenile scrotum" EXACT [] is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-27T05:19:57Z [Term] id: HP:0100601 name: Eclampsia def: "An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders." [HPO:sdoelken] xref: MeSH:D004461 "Eclampsia" is_a: HP:0100603 ! Toxemia of pregnancy created_by: doelkens creation_date: 2010-12-27T05:26:33Z [Term] id: HP:0100602 name: Preeclampsia def: "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] synonym: "Pre-eclampsia" EXACT [] is_a: HP:0100603 ! Toxemia of pregnancy created_by: doelkens creation_date: 2010-12-27T05:26:57Z [Term] id: HP:0100603 name: Toxemia of pregnancy def: "Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Ecplamsia." [HPO:sdoelken] synonym: "Hypertensive disorder of pregnancy" EXACT [] is_a: HP:0002686 ! Prenatal maternal abnormality property_value: HP:0040005 "Pregnancy-induced toxic reactions of the mother that can be as harmless as slight `Maternal hypertension` (HP:0008071) or as life threatening as `Ecplamsia` (HP:0100601)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-27T05:27:41Z [Term] id: HP:0100604 name: Neoplasm of the lip def: "A tumor (abnormal growth of tissue) of the lip." [HPO:probinson] synonym: "Neoplasia of the lip" RELATED [] synonym: "Tumor of the lip" RELATED [] is_a: HP:0000159 ! Abnormality of the lip is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `lips` (FMA:59815)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-27T05:46:46Z [Term] id: HP:0100605 name: Neoplasm of the larynx is_a: HP:0001600 ! Abnormality of the larynx is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-27T06:07:16Z [Term] id: HP:0100606 name: Neoplasm of the respiratory system def: "A tumor (abnormal growth of tissue) of the respiratory system." [HPO:probinson] is_a: HP:0002086 ! Abnormality of the respiratory system is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A benign or malignant `neoplasm` (MPATH:218) (tumour) originating in the respiratory system." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-27T06:08:41Z [Term] id: HP:0100607 name: Dysmenorrhea def: " Pain during menstruation that interferes with daily activities." [ISBN:0-7216-0179-0] xref: MeSH:D004412 "Dysmenorrhea" is_a: HP:0000858 ! Menstrual irregularities created_by: doelkens creation_date: 2010-12-27T06:13:30Z [Term] id: HP:0100608 name: Metrorrhagia def: "Bleeding at irregular intervals." [pmid:22594864] xref: MeSH:D008796 "Metrorrhagia" xref: UMLS:C0025874 "Metrorrhagia" is_a: HP:0000140 ! Abnormality of the menstrual cycle created_by: doelkens creation_date: 2010-12-27T06:14:01Z [Term] id: HP:0100609 name: obsolete Hypermenorrhea is_obsolete: true replaced_by: HP:0000132 created_by: doelkens creation_date: 2010-12-27T06:16:02Z [Term] id: HP:0100610 name: Maternal hyperphenylalaninemia def: "A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy." [HPO:probinson] is_a: HP:0002686 ! Prenatal maternal abnormality is_a: HP:0010893 ! Abnormality of phenylalanine metabolism created_by: doelkens creation_date: 2010-12-27T06:17:13Z [Term] id: HP:0100611 name: Multiple glomerular cysts def: "The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule." [Eurenomics:fschaefer, pmid:20091054] synonym: "Glomerulocystic kidney disease" RELATED [] is_a: HP:0000095 ! Abnormality of the glomerulus created_by: doelkens creation_date: 2010-12-28T10:23:07Z [Term] id: HP:0100612 name: Odontogenic neoplasm def: "Neoplasm involving odontogenic cells, an odontogenic tumor." [HPO:sdoelken] comment: Examples for odontogenic neoplasia are Adenomatoid odontogenic tumors, Ameloblastomas, Calcifying epithelial odontogenic tumors, Calcifying odontogenic cysts, Dentigerous cysts, Odontogenic keratocysts, Dontogenic myxomas, Odontomas. subset: hposlim_core synonym: "Odontogenic tumor" EXACT [] xref: MeSH:D009808 "Odontogenic Tumors" xref: SNOMEDCT:127578009 "Odontogenic neoplasm" xref: SNOMEDCT:3833004 "Odontogenic tumor" xref: UMLS:C0028880 "Odontogenic Tumors" is_a: HP:0000164 ! Abnormality of the teeth is_a: HP:0100649 ! Neoplasm of the oral cavity property_value: HP:0040005 "Neoplasm involving odontogenic cells, an `odontogenic tumor` (MPATH:379)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-28T11:03:36Z [Term] id: HP:0100613 name: Death in early adulthood is_a: HP:0011420 ! Time of death created_by: doelkens creation_date: 2010-12-28T11:12:21Z [Term] id: HP:0100614 name: Myositis def: "A general term for inflammation of the muscles without respect to the underlying cause." [HPO:sdoelken] comment: Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis. xref: MeSH:D009220 "Myositis" is_a: HP:0011805 ! Abnormality of muscle morphology created_by: doelkens creation_date: 2010-12-28T11:14:59Z [Term] id: HP:0100615 name: Ovarian neoplasm def: "A tumor (abnormal growth of tissue) of the ovary." [HPO:probinson] synonym: "Neoplasm of the o" EXACT [] synonym: "Ovarian neoplasia" RELATED [] xref: MeSH:D010051 "Ovarian Neoplasms" is_a: HP:0000137 ! Abnormality of the ovary is_a: HP:0010785 ! Gonadal neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-28T11:37:01Z [Term] id: HP:0100616 name: Testicular teratoma def: "The presence of a teratoma of the testis." [HPO:sdoelken] comment: An encapsulated tumor of the testis with tissue or organ components resembling normal derivatives of all three germ layers. is_a: HP:0009792 ! Teratoma is_a: HP:0010788 ! Testicular neoplasm property_value: HP:0040005 "The presence of a `teratoma` (MPATH:322) of the `testis` (FMA:7210)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100617 name: Testicular seminoma def: "The presence of a seminoma, an undifferentiated germ cell tumor of the testis." [HPO:sdoelken] is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0100620 ! Germinoma property_value: HP:0040005 "The presence of a `seminoma` (MPATH:317), an undifferentiated germ cell tumor of the `testis` (FMA:7210)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100618 name: Leydig cell neoplasia def: "The presence of a neoplasm of the testis with origin in a Leydig cell." [HPO:probinson] is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0010789 ! Abnormality of the Leydig cells property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210) with origin in a `Leydig cell` (CL:0000178)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100619 name: Sertoli cell neoplasm def: "The presence of a neoplasm of the testis with origin in a Sertoli cell." [HPO:probinson] synonym: "Sertoli cell neoplasia" RELATED [] is_a: HP:0010788 ! Testicular neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210) with origin in a ` Sertoli cell` (CL:0000216)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100620 name: Germinoma def: "A type of undifferentiated germ cell tumor that may be benign or malignant." [HPO:sdoelken] xref: MeSH:D018237 "Germinoma" is_a: HP:0100728 ! Germ cell neoplasia created_by: doelkens creation_date: 2010-12-28T11:45:44Z [Term] id: HP:0100621 name: Dysgerminoma def: "The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary." [HPO:sdoelken] xref: MeSH:D004407 "Dysgerminoma" is_a: HP:0100615 ! Ovarian neoplasm is_a: HP:0100620 ! Germinoma property_value: HP:0040005 "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-28T11:47:47Z [Term] id: HP:0100622 name: Maternal seizures is_a: HP:0002686 ! Prenatal maternal abnormality created_by: doelkens creation_date: 2010-12-28T12:03:21Z [Term] id: HP:0100623 name: Abnormality of corpus cavernosum is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-28T12:47:15Z [Term] id: HP:0100624 name: Corpus cavernosum sclerosis is_a: HP:0100623 ! Abnormality of corpus cavernosum created_by: doelkens creation_date: 2010-12-28T12:47:33Z [Term] id: HP:0100625 name: Enlarged thorax synonym: "Wide rib cage" EXACT [] synonym: "Wide thorax" EXACT [] is_a: HP:0001547 ! Abnormality of the rib cage created_by: doelkens creation_date: 2010-12-28T04:14:55Z [Term] id: HP:0100626 name: Chronic hepatic failure is_a: HP:0001399 ! Hepatic failure created_by: doelkens creation_date: 2010-12-28T04:59:16Z [Term] id: HP:0100627 name: Displacement of the external urethral meatus def: "A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina)." [HPO:sdoelken] comment: Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect). synonym: "Displacement of the external urethral orifice" EXACT [] is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000795 ! Abnormality of the urethra created_by: doelkens creation_date: 2010-12-28T05:02:59Z [Term] id: HP:0100628 name: Esophageal diverticulum def: "The presence of a diverticulum of the esophagus." [HPO:probinson] comment: A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity. synonym: "Esophageal pouch" EXACT [] xref: MeSH:D004936 "Diverticulum, Esophageal" xref: SNOMEDCT:414133009 "Esophageal diverticulum" xref: UMLS:C0014854 "Esophageal diverticulum" is_a: HP:0002031 ! Abnormality of the esophagus property_value: HP:0040005 "The presence of a `diverticulum` (MPATH:68) of the `esophagus` (FMA:7131)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T02:22:08Z [Term] id: HP:0100629 name: Midline facial cleft def: "A congenital malformation with a cleft (gap or opening) in the midline of the face." [HPO:probinson] is_a: HP:0002006 ! Facial cleft created_by: doelkens creation_date: 2010-12-29T02:23:01Z [Term] id: HP:0100630 name: Neoplasia of the nasopharynx is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0100606 ! Neoplasm of the respiratory system created_by: doelkens creation_date: 2010-12-29T02:23:48Z [Term] id: HP:0100631 name: Neoplasm of the adrenal gland def: "A tumor (abnormal growth of tissue) of the adrenal gland." [DDD:rscott] synonym: "Adrenal neoplasia" EXACT [] is_a: HP:0011732 ! Abnormality of adrenal morphology is_a: HP:0100568 ! Neoplasm of the endocrine system property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `adrenal gland` (FMA:9604)." xsd:string {xref="DDD:rscott"} created_by: doelkens creation_date: 2010-12-29T02:27:47Z [Term] id: HP:0100632 name: Pulmonary sequestration def: "The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration)." [HPO:sdoelken] synonym: "Cystic lung lesion" RELATED [] is_a: HP:0002101 ! Abnormal lung lobation created_by: doelkens creation_date: 2010-12-29T05:05:08Z [Term] id: HP:0100633 name: Esophagitis def: "Inflammation of the esophagus." [HPO:probinson] subset: hposlim_core synonym: "Oesophagitis" EXACT [] xref: MEDRA:10030216 "Oesophagitis" xref: MeSH:D004941 "Esophagitis" xref: SNOMEDCT:16761005 "Esophagitis" xref: UMLS:C0014868 "Esophagitis" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0004386 ! Gastrointestinal inflammation created_by: doelkens creation_date: 2010-12-29T05:09:23Z [Term] id: HP:0100634 name: Neuroendocrine neoplasm synonym: "Neuroendocrine neoplasia" EXACT [] xref: MeSH:D018278 "Carcinoma, Neuroendocrine" is_a: HP:0100007 ! Neoplasm of the peripheral nervous system is_a: HP:0100568 ! Neoplasm of the endocrine system created_by: doelkens creation_date: 2010-12-29T05:12:37Z [Term] id: HP:0100635 name: Carotid paraganglioma def: "A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery." [HPO:probinson] is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0005344 ! Abnormality of the carotid arteries created_by: doelkens creation_date: 2010-12-29T05:20:58Z [Term] id: HP:0100636 name: Pulmonary paraglioma is_a: HP:0002668 ! Paraganglioma is_a: HP:0100526 ! Neoplasm of the lung created_by: doelkens creation_date: 2010-12-29T05:23:34Z [Term] id: HP:0100637 name: obsolete Neoplasia of the nose is_obsolete: true replaced_by: HP:0012720 created_by: doelkens creation_date: 2010-12-29T05:31:36Z [Term] id: HP:0100638 name: Neoplasm of the pharynx alt_id: HP:0030073 def: "A neoplasm originating in the pharynx." [] comment: Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media. synonym: "Neoplasia of the pharynx" EXACT [] synonym: "Pharyngeal neoplasm" EXACT [] xref: MeSH:D010610 is_a: HP:0000600 ! Abnormality of the pharynx is_a: HP:0100630 ! Neoplasia of the nasopharynx created_by: doelkens creation_date: 2010-12-29T05:31:55Z [Term] id: HP:0100639 name: Erectile abnormalities is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-29T05:45:28Z [Term] id: HP:0100640 name: Laryngeal cyst def: "Presence of a cyst (sac-like structure) located in the larynx." [HPO:probinson, pmid:24040590] is_a: HP:0001600 ! Abnormality of the larynx created_by: doelkens creation_date: 2010-12-29T05:48:37Z [Term] id: HP:0100641 name: Neoplasm of the adrenal cortex def: "The presence of a neoplasm of the adrenal cortex." [HPO:probinson] synonym: "Cortical adrenal neoplasia" EXACT [] is_a: HP:0100631 ! Neoplasm of the adrenal gland property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `adrenal cortex` (FMA:15632)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T05:53:58Z [Term] id: HP:0100642 name: Neoplasm of the adrenal medulla def: "The presence of a neoplasm of the adrenal medulla." [HPO:probinson] synonym: "Medullar adrenal neoplasia" EXACT [] is_a: HP:0100631 ! Neoplasm of the adrenal gland property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `adrenal medulla` (FMA:15633)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T05:54:15Z [Term] id: HP:0100643 name: Abnormality of nail color def: "An anomaly of the color of the nail." [HPO:probinson] synonym: "Abnormality of nail colour" EXACT [] synonym: "Nail dyschromia" EXACT [] is_a: HP:0001597 ! Abnormality of the nail property_value: HP:0040005 "An anomaly of the color of the `nail` (FMA:54326)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T05:59:15Z [Term] id: HP:0100644 name: Melanonychia def: "Brown or black discoloration of the nails." [HPO:probinson] xref: MEDRA:10058330 "Melanonychia" xref: SNOMEDCT:402633003 "Melanonychia" xref: UMLS:C1142305 "Melanonychia" is_a: HP:0100643 ! Abnormality of nail color property_value: HP:0040005 "Brown or black discoloration of the `nails` (FMA:54326)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T06:00:12Z [Term] id: HP:0100645 name: Cystocele def: "When the tough fibrous wall between a woman's bladder and her vagina (the pubocervical fascia) is torn, allowing the bladder to herniate into the vagina." [HPO:sdoelken] xref: ICD-9:618.00 xref: MeSH:D052858 "Cystocele" is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2010-12-29T06:05:01Z [Term] id: HP:0100646 name: Thyroiditis def: "Inflammation of the thyroid gland." [HPO:probinson] xref: MeSH:D013966 "Thyroiditis" xref: UMLS:C0040147 "Thyroiditis" is_a: HP:0011772 ! Abnormality of thyroid morphology property_value: HP:0040005 "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T06:08:32Z [Term] id: HP:0100647 name: Graves disease def: "An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients." [HPO:sdoelken] synonym: "Morbus Basedow" EXACT [] xref: MeSH:D006111 "Graves Disease" is_a: HP:0011784 ! Thyrotoxicosis with diffuse goiter created_by: doelkens creation_date: 2010-12-29T06:08:53Z [Term] id: HP:0100648 name: Neoplasm of the tongue def: "A tumor (abnormal growth of tissue) of the tongue." [HPO:probinson] xref: UMLS:C0040411 "Tongue neoplasm" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0100649 ! Neoplasm of the oral cavity property_value: HP:0040005 "A `neoplasm` (MPATH:218) of the `tongue` (FMA:54640)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T06:14:32Z [Term] id: HP:0100649 name: Neoplasm of the oral cavity def: "A tumor (abnormal growth of tissue) of the oral cavity." [HPO:probinson] is_a: HP:0000163 ! Abnormality of the oral cavity is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A `neoplasm` (MPATH:218) occurring in the `oral cavity` (FMA:20292)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T06:15:14Z [Term] id: HP:0100650 name: Vaginal neoplasm def: "A tumor (abnormal growth of tissue) of the vagina." [HPO:probinson] synonym: "Vaginal neoplasia" RELATED [] xref: MeSH:D014625 "Vaginal Neoplasms" xref: UMLS:C0042258 "Vaginal neoplasm" is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0010787 ! Genital neoplasm property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-29T06:34:41Z [Term] id: HP:0100651 name: Type I diabetes mellitus def: "A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin." [HPO:probinson] comment: The onset of type 1 diabetes is typically during adolescence, but it can develop at any age. synonym: "Diabetes mellitus Type I" EXACT [] synonym: "Insulin-dependent diabetes mellitus" EXACT [] synonym: "INSULIN-DEPENDENT DIABETES MELLITUS (TYPE I)" RELATED [HPO:skoehler] synonym: "Juvenile diabetes mellitus" EXACT [] xref: MeSH:D003922 "Diabetes Mellitus, Type 1" is_a: HP:0000819 ! Diabetes mellitus created_by: doelkens creation_date: 2010-12-29T06:37:55Z [Term] id: HP:0100653 name: Optic neuritis def: "Inflammation of the optic nerve." [HPO:sdoelken] comment: Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage. xref: MeSH:D009902 "Optic Neuritis" is_a: HP:0000587 ! Abnormality of the optic nerve property_value: HP:0040005 "`Inflammation` (MPATH:212) of the `optic nerve` (FMA:50863)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-30T09:56:38Z [Term] id: HP:0100654 name: Retrobulbar optic neuritis def: "Optic neuritis that occurs in the section of the optic nerve located behind the eyeball." [HPO:sdoelken] synonym: "Retrobulbar neuritis" EXACT [] xref: UMLS:C0085582 "Retrobulbar neuritis" is_a: HP:0100653 ! Optic neuritis property_value: HP:0040005 "`Optic neuritis`(HP:0100653) that occurs in the section of the optic nerve located behind the eyeball." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2010-12-30T09:57:09Z [Term] id: HP:0100656 name: Thoracoabdominal wall defects is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0010866 ! Abdominal wall defect created_by: doelkens creation_date: 2010-12-30T10:04:18Z [Term] id: HP:0100657 name: Celosomia def: "Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls." [HPO:sdoelken] synonym: "Kelosomia" EXACT [] is_a: HP:0100656 ! Thoracoabdominal wall defects created_by: doelkens creation_date: 2010-12-30T10:07:54Z [Term] id: HP:0100658 name: Cellulitis def: "A bacterial infection and inflammation of the skin und subcutaneous tissues." [] comment: In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. subset: hposlim_core xref: MeSH:D002481 "Cellulitis" xref: SNOMEDCT:385627004 "Cellulitis" xref: UMLS:C0007642 "Cellulitis" is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2010-12-30T10:11:51Z [Term] id: HP:0100659 name: Abnormality of the cerebral vasculature is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0012443 ! Abnormality of brain morphology created_by: doelkens creation_date: 2010-12-30T11:39:15Z [Term] id: HP:0100660 name: Dyskinesia def: "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] synonym: "DYSKINESIAS" RELATED [HPO:skoehler] synonym: "Dyskinesis" EXACT [] xref: MeSH:D020820 "Dyskinesias" is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-12-30T11:46:50Z [Term] id: HP:0100661 name: Trigeminal neuralgia def: "A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected." [HPO:sdoelken] synonym: "Tic douloureux" EXACT [] xref: MeSH:D014277 "Trigeminal Neuralgia" is_a: HP:0010824 ! Abnormality of the fifth cranial nerve created_by: doelkens creation_date: 2010-12-30T11:53:47Z [Term] id: HP:0100662 name: Chondritis def: "Inflammation of cartilage." [HPO:sdoelken] synonym: "Cartilage inflammation" EXACT [] is_a: HP:0002763 ! Abnormal cartilage morphology created_by: doelkens creation_date: 2010-12-30T12:57:50Z [Term] id: HP:0100663 name: Synotia def: "A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw." [HPO:sdoelken] xref: SNOMEDCT:77471004 "Synotus" xref: UMLS:C0266677 "Synotus" is_a: HP:0000357 ! Abnormal location of ears created_by: doelkens creation_date: 2010-12-30T01:00:36Z [Term] id: HP:0100665 name: Angioedema alt_id: HP:0100666 def: "Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis." [HPO:sdoelken] comment: Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation. synonym: "Angioneurotic oedema" EXACT [] synonym: "Angiooedema" EXACT [] synonym: "Quincke edema" EXACT [] xref: MeSH:D000799 "Angioedema" is_a: HP:0000969 ! Edema is_a: HP:0011276 ! Vascular skin abnormality created_by: doelkens creation_date: 2010-12-30T01:09:59Z [Term] id: HP:0100668 name: Intestinal duplication def: "A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine." [HPO:probinson] synonym: "Bowel duplication" EXACT [] synonym: "Gut duplication" RELATED [] is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0011140 ! Gastrointestinal duplication created_by: doelkens creation_date: 2010-12-30T01:23:50Z [Term] id: HP:0100669 name: Abnormal pigmentation of the oral mucosa def: "An abnormality of the pigmentation of the mucosa of the mouth." [HPO:probinson] synonym: "Abnormal pigmentation of oral cavity" EXACT [] synonym: "Abnormal pigmentation of the oral mucosa/gingivae" EXACT [] is_a: HP:0011830 ! Abnormality of oral mucosa property_value: HP:0040005 "An abnormality of the pigmentation of the `mucosa of the mouth` (FMA:59660)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-30T01:25:45Z [Term] id: HP:0100670 name: Rough bone trabeculation synonym: "Rough trabeculation of bone" EXACT [] is_a: HP:0100671 ! Abnormal trabecular bone morphology created_by: doelkens creation_date: 2010-12-30T01:29:46Z [Term] id: HP:0100671 name: Abnormal trabecular bone morphology def: "Abnormal structure or form of trabecular bone." [HPO:probinson] synonym: "Abnormality of bone trabeculation" EXACT [] is_a: HP:0003330 ! Abnormal bone structure property_value: HP:0040005 "Abnormal structure or form of `trabecular bone` (FMA:24019)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-30T01:30:05Z [Term] id: HP:0100672 name: Vaginal hernia def: "The presence of a hernia of the vagina." [HPO:probinson] is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0100823 ! Genital hernia property_value: HP:0040005 "The presence of a `hernia` (MPATH:75) of the `vagina` (FMA:19949)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-30T01:35:05Z [Term] id: HP:0100673 name: Vaginal hydrocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100674 name: Vaginal hematocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100675 name: Vaginal pyocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100676 name: Vaginal lymphocele comment: "vaginal" refers to the tunica vaginalis of the testis, not to the vagina. is_a: HP:0000045 ! Abnormality of the scrotum created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100677 name: Vulval varicose vein def: "Varicosity of veins in the vulval region." [HPO:probinson] is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0002619 ! Varicose veins created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100678 name: Premature skin wrinkling alt_id: HP:0200074 def: "The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms." [HPO:probinson] subset: hposlim_core synonym: "Wrinkled skin" RELATED [] xref: MEDRA:10040954 "Skin wrinkling" xref: SNOMEDCT:247434009 "Wrinkled skin" xref: UMLS:C0037301 "Skin Wrinkling" is_a: HP:0007495 ! Prematurely aged appearance is_a: HP:0011121 ! Abnormality of skin morphology created_by: doelkens creation_date: 2010-12-30T01:43:36Z [Term] id: HP:0100679 name: Lack of skin elasticity synonym: "Tight skin" RELATED [] is_a: HP:0010647 ! Abnormal elasticity of skin created_by: doelkens creation_date: 2010-12-30T01:48:15Z [Term] id: HP:0100681 name: Esophageal duplication def: "A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication." [HPO:probinson, pmid:10464795] comment: Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower thrid of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut. xref: SNOMEDCT:66865009 "Congenital duplication of esophagus" xref: UMLS:C0266135 "Congenital duplication of esophagus" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0011140 ! Gastrointestinal duplication created_by: doelkens creation_date: 2010-12-30T02:08:38Z [Term] id: HP:0100682 name: Tracheal atresia def: "A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking." [HPO:probinson, pmid:9776081] comment: Diagnosis\ncan be made if the neonate presents with respiratory\ndistress at birth, unable to produce an audible cry in spite\nof an obvious physical effort, and cannot be intubated but\nshows some improvement when ventilated by bag and\nmask. is_a: HP:0002777 ! Tracheal stenosis created_by: doelkens creation_date: 2010-12-30T02:09:37Z [Term] id: HP:0100684 name: Salivary gland neoplasm def: "A tumor (abnormal growth of tissue) of a salivary gland." [HPO:probinson] synonym: "Salivary gland neoplasia" EXACT [] xref: MeSH:D012468 "Salivary gland neoplasms" is_a: HP:0010286 ! Abnormality of the salivary glands is_a: HP:0100649 ! Neoplasm of the oral cavity property_value: HP:0040005 "A `neoplasm` (MPATH:218) originating in a `salivary gland` (FMA:9597)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2010-12-30T02:20:38Z [Term] id: HP:0100685 name: Abnormality of Sharpey fibers def: "An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone." [HPO:probinson] synonym: "Enthesis abnormality" RELATED [] is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2010-12-30T02:25:32Z [Term] id: HP:0100686 name: Enthesitis synonym: "Inflammation of sharpey fibers" EXACT [] is_a: HP:0100685 ! Abnormality of Sharpey fibers created_by: doelkens creation_date: 2010-12-30T02:27:20Z [Term] id: HP:0100687 name: Polyotia def: "The presence of an extra auricle on one or both sides of the head." [HPO:sdoelken] xref: SNOMEDCT:35547002 "Polyotia" xref: UMLS:C0266611 "Accessory auricle of ear" is_a: HP:0000356 ! Abnormality of the outer ear created_by: doelkens creation_date: 2010-12-30T02:30:14Z [Term] id: HP:0100689 name: Decreased corneal thickness def: "A decreased anteroposterior thickness of the cornea." [HPO:gblack] synonym: "Thin cornea" EXACT [] is_a: HP:0011486 ! Abnormality of corneal thickness created_by: doelkens creation_date: 2011-02-18T04:40:41Z [Term] id: HP:0100690 name: Mosaic central corneal dystrophy is_a: HP:0007836 ! Mosaic corneal dystrophy is_a: HP:0007881 ! Central corneal dystrophy created_by: doelkens creation_date: 2011-02-18T04:52:59Z [Term] id: HP:0100691 name: Abnormality of the curvature of the cornea is_a: HP:0000481 ! Abnormality of the cornea created_by: doelkens creation_date: 2011-02-18T04:58:48Z [Term] id: HP:0100692 name: Increased corneal curvature def: "An increase in the degree of curvature of the cornea compared to normal." [DDD:ncarter] synonym: "Steep corneal curvature" EXACT [] is_a: HP:0100691 ! Abnormality of the curvature of the cornea created_by: doelkens creation_date: 2011-02-18T05:01:31Z [Term] id: HP:0100693 name: Iridodonesis def: "Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens." [HPO:sdoelken] is_a: HP:0000525 ! Abnormality of the iris created_by: doelkens creation_date: 2011-02-18T05:11:16Z [Term] id: HP:0100694 name: Tibial torsion def: "Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia." [HPO:sdoelken] comment: Normally, lateral rotation of the tibia increases from approximately 5?? at birth to approximately 15?? at maturity. Tibial torsion is the most common cause of intoeing. In a study by Mullaji et al to determine tibial torsion norms, individuals in India were found to have less tibial torsion than Caucasians but about the same amount as the Japanese population. The differences in normal tibial torsion values are expected to be caused by the different lifestyles and postures of the different populations, such as cross-legged sitting positions. is_a: HP:0002992 ! Abnormality of the tibia property_value: HP:0040005 "Tibial torsion is inward twisting (`medial rotation`) (PATO:0002155) of the `tibia` (FMA:24476)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-03-28T05:04:08Z [Term] id: HP:0100695 name: Lipedema def: "Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise ." [HPO:sdoelken] comment: The pattern of fat deposition is most often bilateral, symmetrical and usually from the waist to a distinct line just above the ankles. is_a: HP:0009126 ! Increased adipose tissue property_value: HP:0040005 "Excess deposit and expansion of `adipose tissue` (FMA:20110) in an unusual pattern which cannot be lost through diet and exercise ." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-03-28T04:43:32Z [Term] id: HP:0100697 name: Neurofibrosarcoma def: "A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma." [HPO:sdoelken] comment: About half the cases are diagnosed in people with neurofibromatosis. synonym: "Malignant peripheral nerve sheath tumor" EXACT [] synonym: "Malignant schwannoma" EXACT [] synonym: "Neurosarcoma" EXACT [] xref: MeSH:D018319 "Neurofibrosarcoma" is_a: HP:0100242 ! Sarcoma created_by: doelkens creation_date: 2011-03-29T11:40:44Z [Term] id: HP:0100698 name: Subcutaneous neurofibromas def: "The presence of Neurofibromas in the subcutis." [HPO:sdoelken] is_a: HP:0001067 ! Neurofibromas property_value: HP:0040005 "The presence of `Neurofibromas` (HP:0001067) in the subcutis." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-03-29T12:03:47Z [Term] id: HP:0100699 name: Scarring is_a: HP:0003549 ! Abnormality of connective tissue created_by: koehlers creation_date: 2011-03-29T06:39:56Z [Term] id: HP:0100700 name: Abnormality of the arachnoid mater def: "An abnormality of the Arachnoid mater." [HPO:sdoelken] synonym: "Abnormality of the arachnoidea" EXACT [] is_a: HP:0010651 ! Abnormality of the meninges property_value: HP:0040005 "An abnormality of the `Arachnoid mater` (FMA:9591)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-03-31T12:43:27Z [Term] id: HP:0100701 name: Abnormality of the pia mater def: "An abnormality of the Pia mater." [HPO:sdoelken] is_a: HP:0010651 ! Abnormality of the meninges property_value: HP:0040005 "An abnormality of the `Pia mater` (FMA:9590)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-03-31T12:44:41Z [Term] id: HP:0100702 name: Arachnoid cyst def: "An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid." [HPO:sdoelken] comment: Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural. synonym: "ARACHNOID CYSTS" RELATED [HPO:skoehler] xref: MeSH:D016080 "Arachnoid Cysts" is_a: HP:0100700 ! Abnormality of the arachnoid mater created_by: doelkens creation_date: 2011-03-31T12:46:59Z [Term] id: HP:0100703 name: Tongue thrusting is_a: HP:0000733 ! Stereotypic behavior created_by: doelkens creation_date: 2011-03-31T12:54:41Z [Term] id: HP:0100704 name: Cortical visual impairment alt_id: HP:0000595 def: "A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye." [HPO:probinson] synonym: "Cortical blindness" EXACT [] xref: UMLS:C0155320 "Blindness, Cortical" is_a: HP:0000505 ! Visual impairment created_by: doelkens creation_date: 2011-03-31T01:03:21Z [Term] id: HP:0100705 name: Abnormality of the glial cells def: "An abnormality of the glia cell." [HPO:probinson] comment: Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons. is_a: HP:0002011 ! Morphological abnormality of the central nervous system property_value: HP:0040005 "An abnormality of the `glia cell` (CL:0000125)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-04-03T02:33:49Z [Term] id: HP:0100706 name: Abnormality of the oligodendroglia def: "One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers." [HPO:sdoelken] is_a: HP:0100705 ! Abnormality of the glial cells created_by: doelkens creation_date: 2011-04-03T02:34:15Z [Term] id: HP:0100707 name: Abnormality of the astrocytes def: "An abnormality of astrocytes." [HPO:probinson] comment: Astrocytes represent a class of large neuroglial (macroglial) cells in the central nervous system. is_a: HP:0100705 ! Abnormality of the glial cells property_value: HP:0040005 "An abnormality of `astrocytes` (CL:0000127)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-04-03T02:36:46Z [Term] id: HP:0100708 name: Abnormality of the microglia def: "An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells." [HPO:probinson] comment: Microglial cells represent a central nervous system macrophage found in the parenchyma of the central nervous system. is_a: HP:0100705 ! Abnormality of the glial cells property_value: HP:0040005 "An abnormality of the `microglial cells` (CL:0000129). They are also known as brain-resident macrophages or hortega cells." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-04-03T02:37:09Z [Term] id: HP:0100709 name: Reduction of oligodendroglia is_a: HP:0100706 ! Abnormality of the oligodendroglia created_by: doelkens creation_date: 2011-04-03T02:39:50Z [Term] id: HP:0100710 name: Impulsivity is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior created_by: doelkens creation_date: 2011-04-07T05:36:16Z [Term] id: HP:0100711 name: Abnormality of the thoracic spine def: "An abnormality of the thoracic vertebral column." [HPO:probinson] is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "An abnormality of the `thoracic vertebral column` (FMA:9140)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-05-05T09:37:17Z [Term] id: HP:0100712 name: Abnormality of the lumbar spine def: "An abnormality of the lumbar vertebral column." [HPO:probinson] is_a: HP:0000925 ! Abnormality of the vertebral column property_value: HP:0040005 "An abnormality of the `lumbar vertebral column` (FMA:16203)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-05-05T09:37:33Z [Term] id: HP:0100716 name: Self-injurious behavior def: "Aggression towards oneself." [HPO:sdoelken] synonym: "Autoagression" EXACT [] synonym: "SELF-INJURIOUS BEHAVIORS" RELATED [HPO:skoehler] synonym: "Self-injurious behaviour" EXACT [] xref: MeSH:D016728 "Self-Injurious Behavior" is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior created_by: doelkens creation_date: 2011-05-16T06:47:54Z [Term] id: HP:0100717 name: Abnormality of the cementum is_a: HP:0011061 ! Abnormality of dental structure created_by: doelkens creation_date: 2011-06-06T01:33:28Z [Term] id: HP:0100718 name: Uterine rupture xref: MeSH:D014597 "Uterine Rupture" xref: UMLS:C0042143 "Uterine rupture" is_a: HP:0000130 ! Abnormality of the uterus created_by: doelkens creation_date: 2011-06-06T01:49:29Z [Term] id: HP:0100719 name: Lens coloboma def: "A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence." [HPO:probinson] subset: hposlim_core is_a: HP:0000589 ! Coloboma created_by: doelkens creation_date: 2011-06-06T02:16:53Z [Term] id: HP:0100720 name: Hypoplasia of the ear cartilage is_a: HP:0000377 ! Abnormality of the pinna created_by: doelkens creation_date: 2011-06-06T02:17:54Z [Term] id: HP:0100721 name: Mediastinal lymphadenopathy def: "Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes." [HPO:probinson] is_a: HP:0002716 ! Lymphadenopathy is_a: HP:0045026 ! Abnormality of the mediastinum created_by: doelkens creation_date: 2011-06-06T02:26:55Z [Term] id: HP:0100723 name: Gastrointestinal stroma tumor synonym: "Gastrointestinal stromal tumor" EXACT [] synonym: "GASTROINTESTINAL STROMAL TUMORS" RELATED [HPO:skoehler] synonym: "GIST" EXACT [] xref: MeSH:D046152 "Gastrointestinal Stromal Tumors" is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract created_by: doelkens creation_date: 2011-06-06T02:49:58Z [Term] id: HP:0100724 name: Hypercoagulability def: "An abnormality of coagulation associated with an increased risk of thrombosis." [HPO:probinson] synonym: "Blood hyperviscosity" EXACT [] synonym: "Thrombophilia" EXACT [] xref: MeSH:D019851 "Thrombophilia" is_a: HP:0001928 ! Abnormality of coagulation created_by: doelkens creation_date: 2011-06-06T04:04:38Z [Term] id: HP:0100725 name: Lichenification def: "Thickening and hardening of the epidermis seen with exaggeration of normal skin lines." [HPO:probinson] is_a: HP:0011121 ! Abnormality of skin morphology created_by: doelkens creation_date: 2011-06-06T04:18:53Z [Term] id: HP:0100726 name: Kaposi's sarcoma def: "A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV)." [HPO:sdoelken] is_a: HP:0005353 ! Susceptibility to herpesvirus is_a: HP:0008069 ! Neoplasm of the skin created_by: doelkens creation_date: 2011-06-06T04:33:09Z [Term] id: HP:0100727 name: Histiocytosis def: "An excessive number of histiocytes (tissue macrophages)." [HPO:sdoelken] xref: MeSH:D015614 "Histiocytosis" is_a: HP:0004311 ! Abnormality of macrophages created_by: doelkens creation_date: 2011-06-06T04:43:05Z [Term] id: HP:0100728 name: Germ cell neoplasia is_a: HP:0010785 ! Gonadal neoplasm created_by: doelkens creation_date: 2011-06-06T04:46:36Z [Term] id: HP:0100729 name: Large face is_a: HP:0001999 ! Abnormal facial shape created_by: doelkens creation_date: 2011-06-06T04:50:47Z [Term] id: HP:0100730 name: Bronchogenic cyst def: "A rare congenital cystic lesion of the lungs in the mediastinum." [HPO:sdoelken] xref: MeSH:D001994 "Bronchogenic Cyst" is_a: HP:0002088 ! Abnormality of the lung created_by: doelkens creation_date: 2011-06-06T05:01:27Z [Term] id: HP:0100731 name: Transverse facial cleft def: "A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear." [DDD:jhurst] comment: Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing. synonym: "Lateral facial cleft" EXACT [] synonym: "Tessier cleft number 7" EXACT [] is_a: HP:0002006 ! Facial cleft is_a: HP:0011338 ! Abnormality of mouth shape created_by: doelkens creation_date: 2011-06-06T05:03:42Z [Term] id: HP:0100732 name: Pancreatic fibrosis is_a: HP:0012090 ! Abnormality of pancreas morphology created_by: doelkens creation_date: 2011-06-06T05:06:26Z [Term] id: HP:0100733 name: Neoplasm of the parathyroid gland def: "A tumor (abnormal growth of tissue) of the parathyroid gland." [HPO:probinson] synonym: "Parathyroid neoplasia" EXACT [] is_a: HP:0011766 ! Abnormality of the parathyroid morphology is_a: HP:0100568 ! Neoplasm of the endocrine system property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) (tumour) in the `parathyroid gland` (FMA:13890)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-06T05:09:38Z [Term] id: HP:0100734 name: Abnormality of the vertebral epiphyses is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0005930 ! Abnormality of the epiphyses created_by: doelkens creation_date: 2011-06-06T05:13:08Z [Term] id: HP:0100735 name: Hypertensive crisis xref: UMLS:C0020546 "Hypertensive crisis" is_a: HP:0000822 ! Hypertension created_by: doelkens creation_date: 2011-06-06T05:38:31Z [Term] id: HP:0100736 name: Abnormality of the soft palate def: "An abnormality of the soft palate." [HPO:probinson] is_a: HP:0000174 ! Abnormality of the palate property_value: HP:0040005 "An abnormality of the `soft palate` (FMA:55021)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-06T05:41:48Z [Term] id: HP:0100737 name: Abnormality of the hard palate is_a: HP:0000174 ! Abnormality of the palate created_by: doelkens creation_date: 2011-06-06T05:42:10Z [Term] id: HP:0100738 name: Abnormal eating behavior def: "Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption." [] comment: Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors. is_a: HP:0000708 ! Behavioral abnormality created_by: doelkens creation_date: 2011-06-06T05:54:51Z [Term] id: HP:0100739 name: Bulimia def: "A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these)." [HPO:probinson, pmid:23346610] xref: MeSH:D002032 "Bulimia" is_a: HP:0100738 ! Abnormal eating behavior created_by: doelkens creation_date: 2011-06-06T05:55:43Z [Term] id: HP:0100742 name: Vascular neoplasm def: "A benign or malignant neoplasm (tumour) originating in the vascular system." [HPO:probinson] xref: MeSH:D019043 "Vascular Neoplasms" is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A benign or malignant `neoplasm` (MPATH:218) (tumour) originating in the vascular system." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-06T06:08:26Z [Term] id: HP:0100743 name: Neoplasm of the rectum is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0100834 ! Neoplasm of the large intestine created_by: doelkens creation_date: 2011-06-06T06:20:18Z [Term] id: HP:0100744 name: Abnormality of the humeroradial joint is_a: HP:0009811 ! Abnormality of the elbow created_by: doelkens creation_date: 2011-06-06T06:24:45Z [Term] id: HP:0100745 name: Abnormality of the humeroulnar joint def: "An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint." [HPO:probinson] is_a: HP:0009811 ! Abnormality of the elbow created_by: doelkens creation_date: 2011-06-06T06:25:05Z [Term] id: HP:0100746 name: Macrodactyly of finger def: "A type of Macrodactyly affecting one or several fingers." [HPO:probinson] synonym: "Macrodactyly (hands)" EXACT [] is_a: HP:0001167 ! Abnormality of finger is_a: HP:0004099 ! Macrodactyly property_value: HP:0040005 "A type of `Macrodactyly` (HP:0004099) affecting one or several fingers." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-06T06:29:55Z [Term] id: HP:0100747 name: Macrodactyly of toe def: "A type of Macrodactyly affecting one or several toes." [HPO:probinson] synonym: "Macrodactyly (feet)" EXACT [] is_a: HP:0001780 ! Abnormality of toe is_a: HP:0004099 ! Macrodactyly property_value: HP:0040005 "A type of `Macrodactyly` (HP:0004099) affecting one or several toes." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-06T06:29:55Z [Term] id: HP:0100748 name: Muscular edema is_a: HP:0000969 ! Edema is_a: HP:0011805 ! Abnormality of muscle morphology created_by: doelkens creation_date: 2011-06-06T06:31:20Z [Term] id: HP:0100749 name: Chest pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest." [] synonym: "Thoracic pain" EXACT [] xref: MeSH:D002637 "Chest Pain" is_a: HP:0000765 ! Abnormality of the thorax created_by: doelkens creation_date: 2011-06-06T06:36:48Z [Term] id: HP:0100750 name: Atelectasis def: "Collapse of part of a lung associated with absence of inflation (air) of that part." [HPPO:probinson] synonym: "Pulmonary atelectasis" EXACT [] xref: MeSH:D001261 "Pulmonary Atelectasis" is_a: HP:0002088 ! Abnormality of the lung created_by: doelkens creation_date: 2011-06-06T06:38:53Z [Term] id: HP:0100751 name: Esophageal neoplasm def: "A tumor (abnormal growth of tissue) of the esophagus." [] xref: MeSH:D004938 "Esophageal Neoplasms" xref: UMLS:C0014859 "Esophageal neoplasm" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract is_a: HP:0012288 ! Neoplasm of head and neck created_by: doelkens creation_date: 2011-06-06T06:44:54Z [Term] id: HP:0100752 name: Abnormal liver lobulation def: "Formation of abnormal lobules (small masses of tissue) in the liver." [HPO:probinson] synonym: "Anomalous liver lobulation" EXACT [] synonym: "Hepatic anomalous lobulation" EXACT [] is_a: HP:0030146 ! Abnormal liver parenchyma morphology created_by: doelkens creation_date: 2011-06-06T06:47:05Z [Term] id: HP:0100753 name: Schizophrenia def: "A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%." [HPO:sdoelken] comment: Positive symptoms, such as delusions and hallucinations (especially of voices), are common, and any Schneiderian first-rank symptoms are particularly indicative of the illness. Negative symptoms include social withdrawal, impairment of ego boundaries, and loss of energy and initiative. Schizophrenia is diagnosed only if symptoms persist for at least one month. The illness can spontaneously remit, run a course with infrequent or frequent relapses, or become chronic. The prognosis has improved with antipsychotic drugs and with vigorous psychological and social management and rehabilitation. The many causes include genetic factors, environmental stress, and various triggering factors. xref: MeSH:D012559 "Schizophrenia" is_a: HP:0000708 ! Behavioral abnormality created_by: doelkens creation_date: 2011-06-07T09:53:08Z [Term] id: HP:0100754 name: Mania def: "A state of abnormally elevated or irritable mood, arousal, and or energy levels." [PMID:15104084] is_a: HP:0000708 ! Behavioral abnormality created_by: doelkens creation_date: 2011-06-07T09:54:05Z [Term] id: HP:0100755 name: Abnormality of salivation is_a: HP:0000163 ! Abnormality of the oral cavity created_by: doelkens creation_date: 2011-06-07T10:01:04Z [Term] id: HP:0100757 name: Pancreatoblastoma def: "A rare pediatric carcinoma of the pancreas." [HPO:sdoelken] is_a: HP:0002894 ! Neoplasm of the pancreas created_by: doelkens creation_date: 2011-06-07T10:05:52Z [Term] id: HP:0100758 name: Gangrene def: "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873] comment: This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy. xref: MeSH:D005734 "Gangrene" xref: UMLS:C0017086 "Gangrene" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: doelkens creation_date: 2011-06-07T10:19:11Z [Term] id: HP:0100759 name: Clubbing of fingers def: "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken] subset: hposlim_core synonym: "Clubbed fingers" EXACT [] synonym: "Clubbing (hands)" EXACT [] synonym: "Finger clubbing" EXACT [] xref: MEDRA:10016680 "Finger clubbing" xref: SNOMEDCT:30760008 "Finger clubbing" xref: UMLS:C0009080 "Clubbed Fingers" is_a: HP:0001211 ! Abnormality of the fingertips is_a: HP:0001217 ! Clubbing created_by: doelkens creation_date: 2011-06-07T10:25:26Z [Term] id: HP:0100760 name: Clubbing of toes def: "Terminal broadening of the toes (distal phalanges of the toes)." [HPO:sdoelken] synonym: "Clubbed toes" RELATED [] synonym: "Clubbing (feet)" EXACT [] is_a: HP:0001217 ! Clubbing is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2011-06-07T10:25:26Z [Term] id: HP:0100761 name: Visceral angiomatosis is_a: HP:0007461 ! Hemangiomatosis created_by: doelkens creation_date: 2011-06-07T10:33:09Z [Term] id: HP:0100762 name: Hemobilia def: "Bleeding into the biliary tree." [HPO:sdoelken] synonym: "Haemobilia" EXACT [] xref: MeSH:D006431 "Hemobilia" is_a: HP:0012439 ! Abnormal biliary tract physiology created_by: doelkens creation_date: 2011-06-07T10:36:09Z [Term] id: HP:0100763 name: Abnormality of the lymphatic system alt_id: HP:0003012 def: "An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively." [HPO:probinson] synonym: "Lymphatic disease" RELATED [] is_a: HP:0002715 ! Abnormality of the immune system created_by: doelkens creation_date: 2011-06-07T10:40:36Z [Term] id: HP:0100764 name: Lymphangioma xref: MeSH:D008202 "Lymphangioma" is_a: HP:0010566 ! Hamartoma is_a: HP:0100763 ! Abnormality of the lymphatic system created_by: doelkens creation_date: 2011-06-07T10:41:13Z [Term] id: HP:0100765 name: Abnormality of the tonsils def: "An abnormality of the tonsils." [HPO:probinson] is_a: HP:0100763 ! Abnormality of the lymphatic system property_value: HP:0040005 "An abnormality of the `tonsils` (FMA:9609)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-07T10:43:35Z [Term] id: HP:0100766 name: Abnormality of the lymphatic vessels is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0100763 ! Abnormality of the lymphatic system created_by: doelkens creation_date: 2011-06-07T10:44:54Z [Term] id: HP:0100767 name: Abnormality of the placenta def: "An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange." [HPO:probinson] is_a: HP:0001194 ! Abnormalities of placenta or umbilical cord created_by: doelkens creation_date: 2011-06-07T11:03:03Z [Term] id: HP:0100768 name: Choriocarcinoma def: "A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors." [HPO:sdoelken] xref: MeSH:D002822 "Choriocarcinoma" is_a: HP:0100728 ! Germ cell neoplasia is_a: HP:0100767 ! Abnormality of the placenta created_by: doelkens creation_date: 2011-06-07T11:05:40Z [Term] id: HP:0100769 name: Synovitis xref: MeSH:D013585 "Synovitis" is_a: HP:0005262 ! Abnormality of the synovia created_by: doelkens creation_date: 2011-06-07T11:45:59Z [Term] id: HP:0100770 name: Hyperperistalsis is_a: HP:0002579 ! Gastrointestinal dysmotility created_by: doelkens creation_date: 2011-06-07T11:53:08Z [Term] id: HP:0100771 name: Hypoperistalsis synonym: "INTESTINAL HYPOPERISTALSIS" RELATED [HPO:skoehler] is_a: HP:0002579 ! Gastrointestinal dysmotility created_by: doelkens creation_date: 2011-06-07T11:53:08Z [Term] id: HP:0100773 name: Cartilage destruction is_a: HP:0002763 ! Abnormal cartilage morphology created_by: doelkens creation_date: 2011-06-07T05:13:50Z [Term] id: HP:0100774 name: Hyperostosis def: "Excessive growth or abnormal thickening of bone tissue." [HPO:probinson] comment: Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). synonym: "Bone Hypertrophy" EXACT [] xref: MeSH:D015576 "Hyperostosis" is_a: HP:0011842 ! Abnormality of skeletal morphology created_by: doelkens creation_date: 2011-06-07T05:17:19Z [Term] id: HP:0100775 name: Dural ectasia def: "A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level." [HPO:sdoelken] comment: Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis. is_a: HP:0010303 ! Abnormality of the spinal meninges created_by: doelkens creation_date: 2011-06-07T05:22:13Z [Term] id: HP:0100776 name: Recurrent pharyngitis def: "An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis." [HPO:probinson] synonym: "Pharyngitis, recurrent" EXACT [] is_a: HP:0002788 ! Recurrent upper respiratory tract infections created_by: doelkens creation_date: 2011-06-07T05:28:27Z [Term] id: HP:0100777 name: Exostoses def: "An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson] xref: MeSH:D005096 "Exostoses" xref: MPATH:MP\:0009877 "exostosis" is_a: HP:0010622 ! Neoplasm of the skeletal system created_by: doelkens creation_date: 2011-06-07T05:34:49Z [Term] id: HP:0100778 name: Cryoglobulinemia def: "Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius." [HPO:probinson] xref: MeSH:D003449 "Cryoglobulinemia" is_a: HP:0005368 ! Abnormality of humoral immunity created_by: doelkens creation_date: 2011-06-07T05:42:38Z [Term] id: HP:0100779 name: Urogenital sinus anomaly def: "A rare birth defect in women where the urethra and vagina both open into a common channel." [HPO:curators] is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0000795 ! Abnormality of the urethra created_by: doelkens creation_date: 2011-06-07T05:45:10Z [Term] id: HP:0100780 name: Conjunctival hamartoma def: "A hamartoma (disordered proliferation of mature tissues) of the conjunctiva." [HPO:probinson] is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0010568 ! Hamartoma of the eye created_by: doelkens creation_date: 2011-06-07T05:50:21Z [Term] id: HP:0100781 name: Abnormality of the sacroiliac joint def: "An anomaly of the sacroiliac joint." [HPO:probinson] is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0002867 ! Abnormality of the ilium is_a: HP:0005107 ! Abnormality of the sacrum property_value: HP:0040005 "An anomaly of the `sacroiliac joint` (FMA:21440)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-07T05:52:24Z [Term] id: HP:0100783 name: Breast aplasia def: "Failure to develop and congenital absence of the breast." [] synonym: "Absent breast" EXACT [] synonym: "Congenital absence of breast" EXACT [] synonym: "Mammary gland aplasia" EXACT [] is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts created_by: doelkens creation_date: 2011-06-07T06:02:34Z [Term] id: HP:0100784 name: Peripheral arteriovenous fistula is_a: HP:0004947 ! Arteriovenous fistula created_by: doelkens creation_date: 2011-06-07T06:03:29Z [Term] id: HP:0100785 name: Insomnia is_a: HP:0002360 ! Sleep disturbance created_by: doelkens creation_date: 2011-06-07T06:14:22Z [Term] id: HP:0100786 name: Hypersomnia xref: UMLS:C0917799 "Hypersomnia" is_a: HP:0002360 ! Sleep disturbance created_by: doelkens creation_date: 2011-06-07T06:15:07Z [Term] id: HP:0100787 name: Prostate neoplasm xref: MeSH:D011471 "Prostatic Neoplasms" is_a: HP:0008775 ! Abnormality of the prostate created_by: doelkens creation_date: 2011-06-07T06:29:49Z [Term] id: HP:0100788 name: Fused lips def: "Lack of separation of the upper and lower lips." [HPO:probinson] subset: hposlim_core is_a: HP:0000159 ! Abnormality of the lip created_by: doelkens creation_date: 2011-06-08T02:16:16Z [Term] id: HP:0100789 name: Torus palatinus def: "A bony protrusion present on the midline of the hard palate." [HPO:sdoelken] subset: hposlim_core synonym: "Palate exostoses" EXACT [] synonym: "PROMINENT MIDPALATAL RIDGE (TORUS PALATINUS)" RELATED [HPO:skoehler] is_a: HP:0100737 ! Abnormality of the hard palate created_by: doelkens creation_date: 2011-06-08T02:28:48Z [Term] id: HP:0100790 name: Hernia synonym: "Hernias" RELATED [HPO:skoehler] xref: MeSH:D006547 "Hernia" is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2011-06-08T02:33:37Z [Term] id: HP:0100792 name: Acantholysis def: "The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes." [HPO:sdoelken] comment: Acantolysis results in a positive Nikolsky's sign in which slight rubbing of the skin results in exfoliation of the outermost layer. synonym: "Nikolsky's sign" RELATED [] is_a: HP:0011124 ! Abnormality of epidermal morphology created_by: doelkens creation_date: 2011-06-08T03:22:24Z [Term] id: HP:0100795 name: Abnormally straight spine def: "The absence of the normal curvature of the vertebral column." [HPO:sdoelken] subset: hposlim_core is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column property_value: HP:0040005 "The absence of the normal `curvature` (PATO:0001591) of the `vertebral column` (FMA:13478)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-06-08T03:52:57Z [Term] id: HP:0100796 name: Orchitis def: "Testicular inflammation." [HPO:sdoelken] xref: MeSH:D009920 "Orchitis" is_a: HP:0000035 ! Abnormality of the testis created_by: doelkens creation_date: 2011-06-08T04:18:06Z [Term] id: HP:0100797 name: Toenail dysplasia def: "An abnormality of the development of the toenails." [HPO:probinson] synonym: "Dysplastic toenails" EXACT [] is_a: HP:0002164 ! Nail dysplasia is_a: HP:0008388 ! Abnormality of the toenails created_by: doelkens creation_date: 2011-06-08T04:23:37Z [Term] id: HP:0100798 name: Fingernail dysplasia def: "An abnormality of the development of the fingernails." [HPO:probinson] comment: If possible, a more precise term should be chosen for annotation. synonym: "Dysplastic fingernails" EXACT [] is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0002164 ! Nail dysplasia created_by: doelkens creation_date: 2011-06-08T04:23:53Z [Term] id: HP:0100799 name: Neoplasm of the middle ear def: "A tumor (abnormal growth of tissue) of the middle ear." [HPO:probinson] synonym: "Neoplasia of the middle ear" EXACT [] is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0012780 ! Neoplasm of the ear property_value: HP:0040005 "A neoplasm` (MPATH:218) of the `middle ear` (FMA:56513)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-08T04:25:43Z [Term] id: HP:0100800 name: Aplasia/Hypoplasia of the pancreas def: "A congential underdevelopment (aplasia or hypoplasia) of the pancreas." [HPO:sdoelken] is_a: HP:0012094 ! Abnormal pancreas size created_by: doelkens creation_date: 2011-06-09T11:45:58Z [Term] id: HP:0100801 name: Pancreatic aplasia def: "Aplasia of the pancreas." [HPO:sdoelken] is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas property_value: HP:0040005 "`Aplasia` (MPATH:58) of the `pancreas` (FMA:7198)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-06-09T11:46:59Z [Term] id: HP:0100802 name: Malposition of the stomach def: "Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation." [HPO:probinson, pmid:16465538] synonym: "Gastric ectopia" EXACT [] synonym: "Gastric malposition" EXACT [] is_a: HP:0002577 ! Abnormality of the stomach created_by: doelkens creation_date: 2011-06-09T11:52:49Z [Term] id: HP:0100803 name: Abnormality of the periungual region def: "An abnormality of the region around the nails of the fingers or toes." [HPO:probinson] is_a: HP:0001597 ! Abnormality of the nail is_a: HP:0011356 ! Regional abnormality of skin created_by: doelkens creation_date: 2011-06-09T11:59:15Z [Term] id: HP:0100804 name: Ungual fibroma def: "Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate)." [HPO:probinson, pmid:18815399] comment: Ungual fibromas are characteristic of tuberous sclerosis. synonym: "Koenen tumor" EXACT [] synonym: "Koenen's tumor" EXACT [] synonym: "Parungual fibromas" EXACT [] synonym: "Periungual fibroma" EXACT [] is_a: HP:0010614 ! Fibroma is_a: HP:0100803 ! Abnormality of the periungual region is_a: HP:0100826 ! Neoplasm of the nail created_by: doelkens creation_date: 2011-06-09T11:59:55Z [Term] id: HP:0100805 name: Precocious menopause is_a: HP:0000869 ! Secondary amenorrhea created_by: doelkens creation_date: 2011-06-09T01:01:09Z [Term] id: HP:0100806 name: Sepsis def: "Systemic inflammatory response to infection." [HPO:probinson] xref: MeSH:D018805 "Sepsis" is_a: HP:0010978 ! Abnormality of immune system physiology created_by: doelkens creation_date: 2011-06-09T01:05:51Z [Term] id: HP:0100807 name: Long fingers alt_id: HP:0006010 def: "The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand." [pmid:19125433] xref: UMLS:C1858091 "Long fingers" is_a: HP:0001167 ! Abnormality of finger created_by: doelkens creation_date: 2011-06-09T01:13:15Z [Term] id: HP:0100808 name: Gastric diverticulum def: "An outpouching of the gastric wall." [HPO:probinson, pmid:22257431] comment: Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation. synonym: "Stomach diverticulum" EXACT [] xref: MeSH:D013273 "Diverticulum, Stomach" xref: SNOMEDCT:75198005 "Gastric diverticulum" xref: UMLS:C0038355 "Stomach Diverticulum" is_a: HP:0002577 ! Abnormality of the stomach created_by: doelkens creation_date: 2011-06-09T01:43:31Z [Term] id: HP:0100809 name: Scalp tenderness def: "Pain or discomfort of the scalp elicited by palpation." [HPO:probinson] synonym: "Scalp hypersensitivity" EXACT [] xref: MEDRA:10039521 "Scalp tenderness" xref: SNOMEDCT:75851004 "Scalp tenderness" xref: UMLS:C0151206 "Scalp tenderness" is_a: HP:0001965 ! Abnormality of the scalp created_by: doelkens creation_date: 2011-06-09T01:46:12Z [Term] id: HP:0100810 name: Pointed helix synonym: "Elfin ear" EXACT [] is_a: HP:0011039 ! Abnormality of the helix created_by: doelkens creation_date: 2011-06-09T01:51:46Z [Term] id: HP:0100811 name: Aplasia/Hypoplasia of the colon def: "Congenital absence or underdevelopment of the colon." [HPO:probinson] is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0005245 ! Intestinal hypoplasia created_by: doelkens creation_date: 2011-06-09T01:54:57Z [Term] id: HP:0100812 name: Halitosis def: "Noticeably unpleasant odors exhaled in breathing." [HPO:sdoelken] subset: hposlim_core synonym: "bad breath" EXACT [] synonym: "Foetor ex ore" EXACT [] xref: MEDRA:10006326 "Breath odour" xref: MeSH:D006209 "Halitosis" xref: UMLS:C0018520 "Halitosis" is_a: HP:0000163 ! Abnormality of the oral cavity created_by: doelkens creation_date: 2011-06-09T02:00:42Z [Term] id: HP:0100813 name: Testicular torsion def: "Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain." [HPO:sdoelken] comment: Many of the symptoms of testicular torsion are similar to the infection epididymitis. synonym: "Spermatic cord torsion" EXACT [] xref: MeSH:D013086 "Spermatic Cord Torsion" is_a: HP:0000035 ! Abnormality of the testis created_by: doelkens creation_date: 2011-06-09T02:03:12Z [Term] id: HP:0100814 name: Blue nevus synonym: "Congenital dermal melanocytosis" RELATED [] synonym: "Mongolian spot" EXACT [] xref: MeSH:D018329 "Blue Nevus" is_a: HP:0003764 ! Nevus created_by: doelkens creation_date: 2011-06-09T02:15:28Z [Term] id: HP:0100816 name: Lip hyperpigmentation is_a: HP:0000159 ! Abnormality of the lip is_a: HP:0007400 ! Irregular hyperpigmentation created_by: doelkens creation_date: 2011-06-09T02:18:39Z [Term] id: HP:0100817 name: Renovascular hypertension alt_id: HP:0008741 def: "The presence of hypertension related to stenosis of the renal artery." [HPO:probinson] comment: Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system. synonym: "Hypertension due to renal artery hyperplasia" EXACT [] xref: MeSH:D006978 "Hypertension, Renovascular" is_a: HP:0000822 ! Hypertension is_a: HP:0012211 ! Abnormal renal physiology property_value: HP:0040005 "The presence of `hypertension` (HP:0000822) related to stenosis of the `renal artery` (FMA:14751)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-09T04:48:35Z [Term] id: HP:0100818 name: Long thorax def: "Increased inferior to superior extent of the thorax." [HPO:probinson] subset: hposlim_core xref: SNOMEDCT:298710001 "Long thorax" xref: UMLS:C0575484 "Long thorax" is_a: HP:0100625 ! Enlarged thorax created_by: doelkens creation_date: 2011-06-09T04:51:15Z [Term] id: HP:0100819 name: Intestinal fistula def: "An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract." [HPO:probinson] subset: hposlim_core xref: MEDRA:10022647 "Intestinal fistula" xref: MeSH:D007412 "Intestinal Fistula" xref: SNOMEDCT:38851006 "Fistula of intestine" is_a: HP:0002242 ! Abnormality of the intestine created_by: doelkens creation_date: 2011-06-09T04:57:15Z [Term] id: HP:0100820 name: Glomerulopathy def: "Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron." [HPO:sdoelken] is_a: HP:0000095 ! Abnormality of the glomerulus created_by: doelkens creation_date: 2011-06-09T04:59:55Z [Term] id: HP:0100821 name: Urethrocele def: "The prolapse of the female urethra into the vagina." [HPO:sdoelken] xref: ICD-9:618.03 is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2011-06-09T05:06:51Z [Term] id: HP:0100822 name: Rectocele def: "A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy." [HPO:sdoelken] xref: ICD-9:618.04 xref: MeSH:D020047 "Rectocele" is_a: HP:0002035 ! Rectal prolapse is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2011-06-09T05:07:41Z [Term] id: HP:0100823 name: Genital hernia is_a: HP:0100790 ! Hernia created_by: doelkens creation_date: 2011-06-09T05:11:49Z [Term] id: HP:0100825 name: Cheilitis def: "Inflammation of the lip." [HPO:sdoelken] comment: It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma. subset: hposlim_core xref: MeSH:D002613 "Cheilitis" xref: SNOMEDCT:7847004 "Cheilitis" xref: UMLS:C0007971 "Cheilitis" is_a: HP:0000159 ! Abnormality of the lip created_by: doelkens creation_date: 2011-06-09T05:18:41Z [Term] id: HP:0100826 name: Neoplasm of the nail def: "A tumor (abnormal growth of tissue) of the nail." [HPO:probinson] is_a: HP:0001597 ! Abnormality of the nail is_a: HP:0011793 ! Neoplasm by anatomical site created_by: doelkens creation_date: 2011-06-09T05:31:21Z [Term] id: HP:0100827 name: Lymphocytosis alt_id: HP:0012141 def: "Increase in the number or proportion of lymphocytes in the blood." [HPO:sdoelken] xref: MeSH:D008218 "Lymphocytosis" is_a: HP:0001974 ! Leukocytosis is_a: HP:0004332 ! Abnormality of lymphocytes is_a: HP:0012140 ! Abnormality of cells of the lymphoid lineage created_by: doelkens creation_date: 2011-06-09T05:32:57Z [Term] id: HP:0100828 name: Increase in T cell number is_a: HP:0011839 ! Abnormality of T cell number is_a: HP:0100827 ! Lymphocytosis created_by: doelkens creation_date: 2011-06-09T05:34:46Z [Term] id: HP:0100829 name: Galactorrhea def: "Spontaneous flow of milk from the breast, unassociated with childbirth or nursing." [HPO:sdoelken] synonym: "Galactorrhoea" EXACT [] is_a: HP:0000769 ! Abnormality of the breast created_by: doelkens creation_date: 2011-06-09T05:39:15Z [Term] id: HP:0100830 name: Round ear is_a: HP:0000377 ! Abnormality of the pinna created_by: doelkens creation_date: 2011-06-09T05:41:29Z [Term] id: HP:0100831 name: Abnormality of vitamin K metabolism def: "Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade." [HPO:probinson] is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2011-06-09T05:46:50Z [Term] id: HP:0100832 name: Mouches volantes def: "Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent." [HPO:sdoelken] synonym: "Flitting flies" EXACT [] synonym: "Myiodeopsia" EXACT [] synonym: "Myodeopsia" EXACT [] synonym: "Myodesopsia" EXACT [] synonym: "Vitreous floaters" EXACT [] xref: UMLS:C0016242 "Vitreous floaters" is_a: HP:0000504 ! Abnormality of vision is_a: HP:0004327 ! Abnormality of the vitreous humor created_by: doelkens creation_date: 2011-06-09T05:58:09Z [Term] id: HP:0100833 name: Neoplasm of the small intestine def: "The presence of a neoplasm of the small intestine." [HPO:probinson] is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the small intestine." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-09T06:03:02Z [Term] id: HP:0100834 name: Neoplasm of the large intestine def: "The presence of a neoplasm of the large intestine." [HPO:probinson] is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract property_value: HP:0040005 "The presence of a `neoplasm` (MPATH:218) of the large intestine." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-06-09T06:03:45Z [Term] id: HP:0100835 name: Benign neoplasm of the central nervous system is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: doelkens creation_date: 2011-06-09T06:08:47Z [Term] id: HP:0100836 name: Malignant neoplasm of the central nervous system is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: doelkens creation_date: 2011-06-09T06:09:10Z [Term] id: HP:0100837 name: Atrophodermia vermiculata def: "Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions." [HPO:probinson] comment: The onset of atrophodermia vermiculata is usually between the ages of 5 and 12 years. synonym: "Vermiculata atrophoderma" EXACT [] xref: SNOMEDCT:2736005 "Atrophoderma vermiculatum" xref: UMLS:C0263429 "Atrophodermia vermiculata" is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0011799 ! Abnormality of facial soft tissue created_by: doelkens creation_date: 2011-06-09T06:20:04Z [Term] id: HP:0100838 name: Recurrent cutaneous abscess formation def: "An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses." [HPO:probinson] is_a: HP:0002722 ! Recurrent abscess formation is_a: HP:0005406 ! Recurrent bacterial skin infections created_by: doelkens creation_date: 2011-06-09T06:35:07Z [Term] id: HP:0100839 name: Hepatic agenesis def: "Absence of the liver owing to a failure of the liver to develop." [HPO:probinson] synonym: "Liver agenesis" EXACT [] is_a: HP:0001392 ! Abnormality of the liver created_by: doelkens creation_date: 2011-06-09T06:37:25Z [Term] id: HP:0100840 name: Aplasia/Hypoplasia of the eyebrow def: "Absence or underdevelopment of the eyebrow." [HPO:probinson] synonym: "SPARSE OR ABSENT EYEBROWS" RELATED [HPO:skoehler] synonym: "SPARSE TO ABSENT EYEBROWS" RELATED [HPO:skoehler] synonym: "Sparse/absent eyebrows" RELATED [HPO:skoehler] is_a: HP:0000534 ! Abnormality of the eyebrow created_by: doelkens creation_date: 2011-06-09T06:40:51Z [Term] id: HP:0100841 name: Microgastria def: "A developmental anomaly wtih a small tubular or saccular midline stomach." [pmid:10067744] comment: Patients with microgastria usually have poor growth, inadequate food consumption, or a complication of the small gastric cavity and gastroesophageal reflux, including frequent vomiting or pneumonia. is_a: HP:0002577 ! Abnormality of the stomach created_by: doelkens creation_date: 2011-06-09T06:42:10Z [Term] id: HP:0100842 name: Septo-optic dysplasia def: "Underdevelopment of the optic nerve and absence of the septum pellucidum." [HPO:sdoelken] synonym: "De Morsier syndrome" EXACT [] is_a: HP:0000609 ! Optic nerve hypoplasia is_a: HP:0001331 ! Absent septum pellucidum created_by: doelkens creation_date: 2011-06-09T06:44:12Z [Term] id: HP:0100843 name: Glioblastoma xref: MeSH:D005909 "Glioblastoma" xref: UMLS:C0017636 "Glioblastoma" is_a: HP:0009592 ! Astrocytoma created_by: doelkens creation_date: 2011-06-09T06:47:23Z [Term] id: HP:0100844 name: Pancreatic fistula xref: MeSH:D010185 "Pancreatic Fistula" is_a: HP:0012090 ! Abnormality of pancreas morphology created_by: doelkens creation_date: 2011-06-09T06:50:10Z [Term] id: HP:0100845 name: Anaphylactic shock def: "An acute hypersensitivity reaction due to exposure to a previously encountered antigen." [HPO:probinson] comment: Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. xref: MeSH:D000707 "Anaphylaxis" xref: UMLS:C0857035 "Acute anaphylaxis" is_a: HP:0100326 ! Immunologic hypersensitivity created_by: doelkens creation_date: 2011-06-09T06:54:40Z [Term] id: HP:0100847 name: Palmoplantar pustulosis def: "A chronic, relapsing, pustular eruption that is localized to the palms and soles." [HPO:probinson, pmid:23209116] comment: There are recurrent and painful eruptions of pustules on the palms and the soles of feet that may resolve with red–brown discoloration. synonym: "Palmoplantar pustules" EXACT [] synonym: "Pustulosis of palms and soles" EXACT [] synonym: "Pustulosis palmaris et plantaris" EXACT [] xref: MEDRA:10050185 "Palmoplantar pustulosis" xref: UMLS:C0030246 "Pustulosis of Palms and Soles" is_a: HP:0011356 ! Regional abnormality of skin is_a: HP:0200039 ! Pustule created_by: doelkens creation_date: 2011-06-09T07:07:06Z [Term] id: HP:0100848 name: Neoplasm of the male external genitalia def: "A tumor (abnormal growth of tissue) of the male external genitalia." [HPO:sdoelken] synonym: "Neoplasia of the male external genitalia" EXACT [] is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0010787 ! Genital neoplasm property_value: HP:0040005 "A `Neoplasia` (HP:0002664) of the `Male external genitalia` (FMA:45642) ." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-06-17T01:33:06Z [Term] id: HP:0100849 name: Neoplasm of the scrotum def: "A tumor (abnormal growth of tissue) of the scrotum." [HPO:probinson] synonym: "Neoplasia of the scrotum" EXACT [] is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0100848 ! Neoplasm of the male external genitalia created_by: doelkens creation_date: 2011-06-17T01:37:49Z [Term] id: HP:0100850 name: Neoplasm of the penis def: "A tumor (abnormal growth of tissue) of the penis." [HPO:probinson] synonym: "Neoplasia of the penis" EXACT [] is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0100848 ! Neoplasm of the male external genitalia created_by: doelkens creation_date: 2011-06-17T01:38:16Z [Term] id: HP:0100851 name: Abnormal emotion/affect behavior def: "An abnormality of emotional behaviour." [HPO:sdoelken] synonym: "Abnormal emotion/affect behaviour" EXACT [] is_a: HP:0000708 ! Behavioral abnormality created_by: doelkens creation_date: 2011-06-23T11:07:13Z [Term] id: HP:0100852 name: Abnormal fear/anxiety-related behavior alt_id: HP:0001296 def: "An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response." [HPO:sdoelken] synonym: "Mood alterations" EXACT [] is_a: HP:0100851 ! Abnormal emotion/affect behavior created_by: doelkens creation_date: 2011-06-23T11:13:16Z [Term] id: HP:0100853 name: Hypoplastic areola alt_id: HP:0006609 def: "Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple." [HPO:probinson] subset: hposlim_core synonym: "Hypoplastic areolae" EXACT [] is_a: HP:0000769 ! Abnormality of the breast property_value: HP:0040005 "Underdevelopment of the `areola` (FMA:67796), the circular area of pigmented skin surrounding the nipple." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T09:41:44Z [Term] id: HP:0100854 name: Aplasia of the musculature def: "Absence of the musculature." [HPO:sdoelken] is_a: HP:0001460 ! Aplasia/Hypoplasia involving the skeletal musculature created_by: doelkens creation_date: 2011-11-30T09:51:08Z [Term] id: HP:0100855 name: Triceps hypoplasia def: "Hypoplasia of the triceps muscle." [HPO:sdoelken] is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps is_a: HP:0030239 ! Hypoplasia of the upper arm musculature created_by: doelkens creation_date: 2011-11-30T09:56:14Z [Term] id: HP:0100856 name: Poorly ossified vertebrae def: "Decreased ossification of the vertebral bodies." [HPO:sdoelken] is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies property_value: HP:0040005 "Decreased `ossification` ( GO:0001503) of the `vertebral bodies` (FMA:11945)." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-11-30T09:59:32Z [Term] id: HP:0100857 name: Flat sella turcica def: "An abnormally flat sella turcica." [HPO:sdoelken] is_a: HP:0002681 ! Deformed sella turcica created_by: doelkens creation_date: 2011-11-30T10:02:07Z [Term] id: HP:0100858 name: Celiac artery aneurysm def: "Abnormal outpouching or sac-like dilatation in the wall of the celiac artery." [HPO:probinson] is_a: HP:0002636 ! Aneurysm of an abdominal artery property_value: HP:0040005 "Abnormal outpouching or sac-like dilatation in the wall of the `celiac artery` (FMA:50737)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T10:07:35Z [Term] id: HP:0100859 name: Superior mesenteric artery aneurysm def: "Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery ." [HPO:probinson] is_a: HP:0011934 ! Mesenteric artery aneurysm property_value: HP:0040005 "Abnormal outpouching or sac-like dilatation in the wall of the `superior mesenteric artery ` (FMA:14749)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T10:07:35Z [Term] id: HP:0100860 name: Inferior mesenteric artery aneurysm def: "Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery ." [HPO:probinson] is_a: HP:0011934 ! Mesenteric artery aneurysm property_value: HP:0040005 "Abnormal outpouching or sac-like dilatation in the wall of the `inferior mesenteric artery ` (FMA:14750)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T10:07:35Z [Term] id: HP:0100861 name: Vertebral body sclerosis alt_id: HP:0004578 def: "Increase in bone density of the vertebral body." [HPO:probinson] is_a: HP:0003468 ! Abnormality of the vertebrae created_by: doelkens creation_date: 2011-11-30T10:12:34Z [Term] id: HP:0100862 name: Aplasia of the femoral head is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens creation_date: 2011-11-30T10:47:46Z [Term] id: HP:0100863 name: Aplasia of the femoral neck is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens creation_date: 2011-11-30T10:48:08Z [Term] id: HP:0100864 name: Short femoral neck alt_id: HP:0003032 alt_id: HP:0008779 alt_id: HP:0008793 def: "An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] subset: hposlim_core synonym: "Hypoplasia of the femoral neck" EXACT [] synonym: "Hypoplastic femoral neck" EXACT [] synonym: "Short femoral necks" EXACT [] xref: UMLS:C1839722 "Hypoplastic femoral neck" xref: UMLS:C1859367 "Short femoral neck" is_a: HP:0003367 ! Abnormality of the femoral neck is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck created_by: doelkens creation_date: 2011-11-30T10:48:34Z [Term] id: HP:0100865 name: Broad ischia alt_id: HP:0008814 def: "Increased width of the ischium, which forms the lower and back part of the hip bone." [HPO:probinson] is_a: HP:0003174 ! Abnormality of the ischium property_value: HP:0040005 "Increased width of the `ischium` (FMA:16592), which forms the lower and back part of the hip bone." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T11:09:10Z [Term] id: HP:0100866 name: Short iliac bones is_a: HP:0000946 ! Hypoplastic ilia created_by: doelkens creation_date: 2011-11-30T11:11:24Z [Term] id: HP:0100867 name: Duodenal stenosis alt_id: HP:0005205 alt_id: HP:0010449 def: "The narrowing or partial blockage of a portion of the duodenum." [HPO:sdoelken] subset: hposlim_core synonym: "Duodenal stenosis/atresia" EXACT [] xref: MEDRA:10050094 "Duodenal stenosis" xref: SNOMEDCT:73120006 "Stenosis of duodenum" xref: UMLS:C0238093 "Duodenal stenosis" is_a: HP:0002246 ! Abnormality of the duodenum is_a: HP:0012848 ! Small intestinal stenosis created_by: doelkens creation_date: 2011-11-30T11:13:27Z [Term] id: HP:0100869 name: Palmar telangiectasia alt_id: HP:0007399 def: "The presence of telangiectases on the skin of palm of hand." [HPO:probinson] synonym: "Telangiectases of palms and soles" EXACT [] synonym: "Teleangiectases of palms" EXACT [] is_a: HP:0100585 ! Teleangiectasia of the skin is_a: HP:0100871 ! Abnormality of the palm property_value: HP:0040005 "The presence of telangiectases on the `skin of palm of hand` (FMA:38301)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T11:19:45Z [Term] id: HP:0100870 name: Plantar telangiectasia def: "Telangiectases (small dilated blood vessels) located on the skin of sole of foot." [HPO:probinson] synonym: "Plantar teleangiectasia" EXACT [] synonym: "Teleangiectases of soles" EXACT [] is_a: HP:0100585 ! Teleangiectasia of the skin is_a: HP:0100872 ! Abnormality of the plantar skin of foot property_value: HP:0040005 "Telangiectases (small dilated blood vessels) located on the `skin of sole of foot` (FMA:37849)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T11:19:59Z [Term] id: HP:0100871 name: Abnormality of the palm def: "An abnormality of the palm, that is, of the front of the hand." [HPO:probinson] is_a: HP:0001155 ! Abnormality of the hand property_value: HP:0040005 "An abnormality of the `palm`(FMA:24920), that is, of the front of the hand." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T11:21:16Z [Term] id: HP:0100872 name: Abnormality of the plantar skin of foot alt_id: HP:0010613 def: "An abnormality of the plantar part of foot, that is of the soles of the feet." [HPO:probinson] synonym: "Minor feet anomalies" EXACT [] is_a: HP:0011356 ! Regional abnormality of skin property_value: HP:0040005 "An abnormality of the `plantar part of foot` (FMA:25000), that is of the soles of the feet." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-11-30T11:23:05Z [Term] id: HP:0100874 name: Thick hair def: "Increased density of hairs, i.e., and elevated number of hairs per unit area." [HPO:probinson] subset: hposlim_core is_a: HP:0011357 ! Abnormality of hair density property_value: HP:0040005 "Increased density of `hairs` (FMA:53667), i.e., and elevated number of hairs per unit area." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-12-01T02:13:58Z [Term] id: HP:0100875 name: Hemimacroglossia def: "Increased length and width of one half of the tounge." [HPO:sdoelken] synonym: "" RELATED [] is_a: HP:0000158 ! Macroglossia created_by: doelkens creation_date: 2011-12-01T02:15:01Z [Term] id: HP:0100876 name: Infra-orbital crease alt_id: HP:0007796 def: "Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma." [pmid:19125427] comment: This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately. subset: hposlim_core synonym: "Infraorbital creases" EXACT [] synonym: "Underorbital skin creases" EXACT [] xref: UMLS:C1857280 "Underorbital skin creases" is_a: HP:0000315 ! Abnormality of the orbital region created_by: doelkens creation_date: 2011-12-01T02:21:22Z [Term] id: HP:0100877 name: Renal diverticulum def: "Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system." [HPO:sdoelken] synonym: "Caliceal diverticulum" EXACT [] synonym: "Pelvic diverticulum" EXACT [] synonym: "Renal pelvic diverticulum" EXACT [] is_a: HP:0000107 ! Renal cyst is_a: HP:0004742 ! Abnormality of the renal collecting system created_by: doelkens creation_date: 2011-12-01T02:29:09Z [Term] id: HP:0100878 name: Enlarged uterus is_a: HP:0000130 ! Abnormality of the uterus created_by: doelkens creation_date: 2011-12-01T02:32:26Z [Term] id: HP:0100879 name: Enlarged ovaries is_a: HP:0000137 ! Abnormality of the ovary created_by: doelkens creation_date: 2011-12-01T02:33:12Z [Term] id: HP:0100880 name: Nephrogenic rest def: "Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney." [HPO:sdoelken] comment: Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests. is_a: HP:0012210 ! Abnormal renal morphology created_by: doelkens creation_date: 2011-12-01T02:41:34Z [Term] id: HP:0100881 name: Congenital mesoblastic nephroma def: "Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue." [HPO:sdoelken] comment: Congenital mesoblastic nephroma is more common in males. is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0011794 ! Embryonal renal neoplasm created_by: doelkens creation_date: 2011-12-01T02:44:52Z [Term] id: HP:0100882 name: Fibrous hamartoma def: "A rare, benign soft tissue tumor that typically occurs within the first two years of life." [HPO:sdoelken] synonym: "Fibrous hamartoma of infancy" EXACT [] is_a: HP:0010566 ! Hamartoma created_by: doelkens creation_date: 2011-12-01T02:48:30Z [Term] id: HP:0100883 name: Chorangioma def: "Hamartoma-like growth in the placenta consisting of blood vessels." [HPO:sdoelken] is_a: HP:0010566 ! Hamartoma is_a: HP:0100767 ! Abnormality of the placenta created_by: doelkens creation_date: 2011-12-01T02:50:56Z [Term] id: HP:0100884 name: Compensatory scoliosis def: "A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time." [HPO:sdoelken] is_a: HP:0002650 ! Scoliosis created_by: doelkens creation_date: 2011-12-01T02:56:41Z [Term] id: HP:0100885 name: Lateral venous anomaly def: "Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life." [HPO:sdoelken] synonym: "Lateral marginal vein of Servelle" EXACT [] synonym: "Vein of servelle" EXACT [] is_a: HP:0001015 ! Prominent superficial veins created_by: doelkens creation_date: 2011-12-01T03:16:02Z [Term] id: HP:0100886 name: Abnormality of globe location def: "An abnormality in the placement of the ocular globe (eyeball)." [HPO:sdoelken] is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000315 ! Abnormality of the orbital region is_a: HP:0012374 ! Abnormality of the globe created_by: doelkens creation_date: 2011-12-13T04:25:29Z [Term] id: HP:0100887 name: Abnormality of globe size alt_id: HP:0010725 def: "An abnormality in the size of the ocular globe (eyeball)." [HPO:sdoelken] is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000315 ! Abnormality of the orbital region is_a: HP:0012374 ! Abnormality of the globe created_by: doelkens creation_date: 2011-12-13T04:25:29Z [Term] id: HP:0100888 name: Interdigital loops is_a: HP:0007477 ! Abnormal dermatoglyphics created_by: doelkens creation_date: 2011-12-01T04:50:01Z [Term] id: HP:0100889 name: Abnormality of the ductus choledochus def: "An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder." [HPO:sdoelken] synonym: "Abnormality of the common bile duct" EXACT [] is_a: HP:0012440 ! Abnormal biliary tract morphology property_value: HP:0040005 "An abnormality of the `Common bile duct` (FMA:14667), a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the `Common hepatic duct` (FMA:14668) and the `Cystic duct` (FMA:14539) from the gall bladder." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-12-01T04:52:13Z [Term] id: HP:0100890 name: Cyst of the ductus choledochus synonym: "Choledochal cyst" EXACT [] xref: MeSH:D015529 "Choledochal Cyst" is_a: HP:0100889 ! Abnormality of the ductus choledochus created_by: doelkens creation_date: 2011-12-01T05:02:35Z [Term] id: HP:0100891 name: Bifid xiphoid process def: "A cleft of the xiphoid process of the sternum." [HPO:sdoelken] synonym: "Bifid xiphisternum" EXACT [] is_a: HP:0100892 ! Abnormality of the xiphoid process property_value: HP:0040005 "A cleft of the `xiphoid process` (FMA:7488) of the sternum." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-12-01T05:07:17Z [Term] id: HP:0100892 name: Abnormality of the xiphoid process def: "An abnormality of the xiphoid process of the sternum." [HPO:sdoelken] is_a: HP:0000766 ! Abnormality of the sternum property_value: HP:0040005 "An abnormality of the `xiphoid process` (FMA:7488) of the sternum." xsd:string {xref="HPO:sdoelken"} created_by: doelkens creation_date: 2011-12-01T05:09:03Z [Term] id: HP:0100893 name: Prominent xiphoid process def: "Increased prominence of the xiphoid process of the sternum." [HPO:probinson] synonym: "Prominent xiphisternum" EXACT [] is_a: HP:0100892 ! Abnormality of the xiphoid process property_value: HP:0040005 "Increased prominence of the `xiphoid process` (FMA:7488) of the sternum." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-12-01T05:10:05Z [Term] id: HP:0100894 name: Broad xiphoid process def: "Increased side-to-side width of the xiphoid process of the sternum." [HPO:probinson] synonym: "Broad xiphisternum" EXACT [] is_a: HP:0100892 ! Abnormality of the xiphoid process property_value: HP:0040005 "Increased side-to-side width of the `xiphoid process` (FMA:7488) of the sternum." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-12-01T05:10:27Z [Term] id: HP:0100896 name: Rectal polyposis alt_id: HP:0100897 def: "The presence of multiple rectal hyperplastic/adenomatous polyps." [HPO:probinson] synonym: "Multiple rectal polyps" EXACT [] synonym: "Rectal polyps" EXACT [] is_a: HP:0030255 ! Large intestinal polyposis is_a: HP:0100743 ! Neoplasm of the rectum created_by: doelkens creation_date: 2011-12-01T05:33:49Z [Term] id: HP:0100898 name: Connective tissue nevi def: "Connective tissue nevi are hamartomas in which one or several components of the dermis is altered." [HPO:sdoelken] comment: Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present. Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes. is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0003764 ! Nevus created_by: doelkens creation_date: 2011-12-01T05:39:30Z [Term] id: HP:0100899 name: Sclerosis of finger phalanx def: "An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the hand" EXACT [] is_a: HP:0004054 ! Sclerosis of hand bone is_a: HP:0005918 ! Abnormality of phalanx of finger created_by: doelkens creation_date: 2011-12-02T09:34:05Z [Term] id: HP:0100900 name: Sclerosis of the distal phalanx of the 2nd finger is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100901 name: Sclerosis of the distal phalanx of the 3rd finger is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100902 name: Sclerosis of the distal phalanx of the 4th finger is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100903 name: Sclerosis of the distal phalanx of the 5th finger is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100904 name: Sclerosis of the middle phalanx of the 2nd finger is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100905 name: Sclerosis of the middle phalanx of the 3rd finger is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100906 name: Sclerosis of the middle phalanx of the 4th finger is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100907 name: Sclerosis of the middle phalanx of the 5th finger is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100908 name: Sclerosis of the proximal phalanx of the 2nd finger is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100918 ! Sclerosis of 2nd finger phalanx [Term] id: HP:0100909 name: Sclerosis of the proximal phalanx of the 3rd finger is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100919 ! Sclerosis of 3rd finger phalanx [Term] id: HP:0100910 name: Sclerosis of the proximal phalanx of the 4th finger is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100920 ! Sclerosis of 4th finger phalanx [Term] id: HP:0100911 name: Sclerosis of the proximal phalanx of the 5th finger is_a: HP:0100917 ! Sclerosis of proximal finger phalanx is_a: HP:0100921 ! Sclerosis of 5th finger phalanx [Term] id: HP:0100912 name: Sclerosis of the distal phalanx of the thumb def: "An elevation of bone density in the distal phalanx of the thumb." [HPO:probinson] comment: Sclerosis can be identified on a radiograph as an area of increased opacity. is_a: HP:0100915 ! Sclerosis of distal finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx [Term] id: HP:0100913 name: Sclerosis of the proximal phalanx of the thumb def: "An elevation of bone density in the proximal phalanx of the thumb." [HPO:probinson] is_a: HP:0100916 ! Sclerosis of middle finger phalanx is_a: HP:0100922 ! Sclerosis of thumb phalanx [Term] id: HP:0100914 name: Sclerosis of the 1st metacarpal is_a: HP:0100917 ! Sclerosis of proximal finger phalanx [Term] id: HP:0100915 name: Sclerosis of distal finger phalanx def: "An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the distal phalanges of the hand" EXACT [] is_a: HP:0009832 ! Abnormality of the distal phalanx of finger is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100916 name: Sclerosis of middle finger phalanx def: "An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the middle phalanges of the hand" EXACT [] is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100917 name: Sclerosis of proximal finger phalanx def: "An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the proximal phalanges of the hand" EXACT [] is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100918 name: Sclerosis of 2nd finger phalanx def: "An elevation in bone density in one or more distal phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 2nd finger" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100919 name: Sclerosis of 3rd finger phalanx def: "An elevation in bone density in one or more distal phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 3rd finger" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100920 name: Sclerosis of 4th finger phalanx def: "An elevation in bone density in one or more distal phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 4th finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100921 name: Sclerosis of 5th finger phalanx def: "An elevation in bone density in one or more distal phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 5th finger" EXACT [] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100922 name: Sclerosis of thumb phalanx synonym: "Sclerosis of the phalanges of the thumb" EXACT [] is_a: HP:0009602 ! Abnormality of thumb phalanx is_a: HP:0100899 ! Sclerosis of finger phalanx [Term] id: HP:0100923 name: Clavicular sclerosis alt_id: HP:0006648 def: "An increase in bone density within the clavicle." [HPO:probinson] synonym: "Osteosclerosis of the clavicle" EXACT [] synonym: "OSTEOSCLEROSIS OF THE CLAVICLES" RELATED [HPO:skoehler] is_a: HP:0000889 ! Abnormality of the clavicles is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2011-12-02T10:28:41Z [Term] id: HP:0100924 name: Sclerosis of toe phalanx def: "An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the toes" EXACT [] is_a: HP:0010161 ! Abnormality of the phalanges of the toes is_a: HP:0100925 ! Sclerosis of foot bone created_by: doelkens creation_date: 2011-12-02T11:08:43Z [Term] id: HP:0100925 name: Sclerosis of foot bone def: "An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of bones of the feet" EXACT [] is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2011-12-02T11:12:32Z [Term] id: HP:0100926 name: Sclerosis of 2nd toe phalanx def: "An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 2nd toe" EXACT [] is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100927 name: Sclerosis of 3rd toe phalanx def: "An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 3rd toe" EXACT [] is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100928 name: Sclerosis of 4th toe phalanx def: "An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 4th toe" EXACT [] is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100929 name: Sclerosis of 5th toe phalanx def: "An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the 5th toe" EXACT [] is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100930 name: Sclerosis of hallux phalanx def: "An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the phalanges of the hallux" EXACT [] is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100931 name: Sclerosis of the proximal phalanx of the 2nd toe def: "An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100932 name: Sclerosis of the proximal phalanx of the 3rd toe def: "An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100933 name: Sclerosis of the proximal phalanx of the 4th toe is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100934 name: Sclerosis of the proximal phalanx of the 5th toe is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100946 ! Sclerosis of proximal toe phalanx [Term] id: HP:0100935 name: Sclerosis of the middle phalanx of the 2nd toe is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100936 name: Sclerosis of the middle phalanx of the 3rd toe def: "An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100937 name: Sclerosis of the middle phalanx of the 4th toe is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100938 name: Sclerosis of the middle phalanx of the 5th toe is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100939 name: Sclerosis of the distal phalanx of the 2nd toe is_a: HP:0010356 ! Abnormality of the distal phalanx of the 2nd toe is_a: HP:0100926 ! Sclerosis of 2nd toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100940 name: Sclerosis of the distal phalanx of the 3rd toe def: "An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] is_a: HP:0100927 ! Sclerosis of 3rd toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100941 name: Sclerosis of the distal phalanx of the 4th toe is_a: HP:0100928 ! Sclerosis of 4th toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100942 name: Sclerosis of the distal phalanx of the 5th toe is_a: HP:0100929 ! Sclerosis of 5th toe phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100943 name: Sclerosis of the proximal phalanx of the hallux is_a: HP:0100930 ! Sclerosis of hallux phalanx is_a: HP:0100947 ! Sclerosis of middle toe phalanx [Term] id: HP:0100944 name: Sclerosis of the distal phalanx of the hallux is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0100930 ! Sclerosis of hallux phalanx is_a: HP:0100948 ! Sclerosis of distal toe phalanx [Term] id: HP:0100945 name: Sclerosis of the 1st metatarsal is_a: HP:0100930 ! Sclerosis of hallux phalanx [Term] id: HP:0100946 name: Sclerosis of proximal toe phalanx def: "An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the proximal phalanges of the toes" EXACT [] is_a: HP:0010184 ! Abnormality of toe proximal phalanx is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100947 name: Sclerosis of middle toe phalanx def: "An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the middle phalanges of the toes" EXACT [] is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100948 name: Sclerosis of distal toe phalanx def: "An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity." [HPO:probinson] synonym: "Sclerosis of the distal phalanges of the toes" EXACT [] is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0100924 ! Sclerosis of toe phalanx [Term] id: HP:0100950 name: Long chain 3 hydroxyacyl coA dehydrogenase deficiency is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism created_by: doelkens creation_date: 2011-12-02T04:33:23Z [Term] id: HP:0100951 name: Enlarged fossa interpeduncularis alt_id: HP:0002420 synonym: "Enlarged basal cistern" EXACT [] synonym: "Enlarged interpeduncular cistern" EXACT [] xref: UMLS:C1837716 "Deep posterior interpeduncular fossa" is_a: HP:0002119 ! Ventriculomegaly created_by: doelkens creation_date: 2011-12-02T04:45:02Z [Term] id: HP:0100952 name: Enlarged sylvian cistern def: "An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure)." [HPO:probinson] synonym: "Enlarged lateral fissure" EXACT [] synonym: "Enlarged lateral sulcus" EXACT [] synonym: "Enlarged sylvian fissure" EXACT [] is_a: HP:0002119 ! Ventriculomegaly created_by: doelkens creation_date: 2011-12-02T04:47:51Z [Term] id: HP:0100953 name: Enlarged interhemispheric fissure synonym: "Enlarged great longitudinal fissure" EXACT [] synonym: "Enlarged longitudinal cerebral fissure" EXACT [] synonym: "Enlarged longitudinal fissure" EXACT [] is_a: HP:0002119 ! Ventriculomegaly created_by: doelkens creation_date: 2011-12-02T04:49:49Z [Term] id: HP:0100954 name: Open operculum def: "Underdevelopment of the operculum." [HPO:sdoelken] is_a: HP:0002538 ! Abnormality of the cerebral cortex is_a: HP:0006872 ! Cerebral hypoplasia created_by: doelkens creation_date: 2011-12-02T04:55:20Z [Term] id: HP:0100955 name: Giant cell granuloma of mandible is_a: HP:0000277 ! Abnormality of the mandible created_by: doelkens creation_date: 2011-12-02T04:57:10Z [Term] id: HP:0100957 name: Abnormality of the renal medulla alt_id: HP:0005582 def: "An abnormality of the medulla of the kidney." [HPO:probinson] comment: The renal medulla is composed mainly of renal tubules. is_a: HP:0012210 ! Abnormal renal morphology property_value: HP:0040005 "An abnormality of the `medulla of the kidney` (FMA:15582)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2011-12-12T10:02:15Z [Term] id: HP:0100958 name: Narrow foramen obturatorium def: "Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis." [HPO:probinson] is_a: HP:0003172 ! Abnormality of the pubic bone is_a: HP:0003174 ! Abnormality of the ischium property_value: HP:0040005 "Decreased width of the `foramen obturatorium` (FMA:16999). The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2012-01-18T05:17:14Z [Term] id: HP:0100959 name: Dense metaphyseal bands def: "Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones." [HPO:sdoelken] synonym: "Dense metaphyseal lines" EXACT [] synonym: "Transverse metaphyseal bands" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses created_by: doelkens creation_date: 2012-01-18T05:25:57Z [Term] id: HP:0100960 name: Asymmetric ventricles is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: doelkens creation_date: 2012-01-18T05:47:26Z [Term] id: HP:0100961 name: Enlarged hippocampus def: "Increase in size of the hippocampus." [HPO:probinson] comment: The hippocampus is part of the limbic system and plays a role in long- and short-term memory. is_a: HP:0002538 ! Abnormality of the cerebral cortex property_value: HP:0040005 "Increase in size of the `hippocampus` (FMA:62493)." xsd:string {xref="HPO:probinson"} created_by: doelkens creation_date: 2012-01-18T06:05:24Z [Term] id: HP:0100962 name: Shyness def: "Discomfort and partial inhibition of the usual forms of behavior when in the presence of others." [MeSH:D012792] xref: MeSH:D012792 "Shyness" is_a: HP:0012433 ! Abnormal social behavior created_by: doelkens creation_date: 2012-01-18T06:06:28Z [Term] id: HP:0100963 name: Hyperesthesia synonym: "Hyperaesthesia" EXACT [] xref: MeSH:D006941 "Hyperesthesia" is_a: HP:0000763 ! Sensory neuropathy created_by: doelkens creation_date: 2012-01-18T06:11:19Z [Term] id: HP:0200000 name: Dysharmonic bone age def: "Different levels of maturation of different bones." [HPO:probinson] comment: Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. \nIf the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is refered to as dysharmonic skeletal maturation. synonym: "Dysharmonic skeletal maturation" EXACT [] xref: UMLS:C0429620 "Bone age" is_a: HP:0000927 ! Abnormality of skeletal maturation created_by: sebastiankohler creation_date: 2010-05-31T01:16:51Z [Term] id: HP:0200001 name: Dysharmonic accelerated bone age def: "A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones." [HPO:probinson] is_a: HP:0005616 ! Accelerated skeletal maturation is_a: HP:0200000 ! Dysharmonic bone age created_by: sebastiankohler creation_date: 2010-05-31T01:20:58Z [Term] id: HP:0200003 name: Splayed epiphyses alt_id: HP:0004978 def: "Flaring (widening) of the epiphysis." [HPO:probinson] is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sebastiankohler creation_date: 2010-05-31T02:19:45Z [Term] id: HP:0200005 name: Abnormal shape of the palpebral fissure def: "The presence of an abnormal shape of the palpebral fissure." [HPO:probinson] subset: hposlim_core is_a: HP:0008050 ! Abnormality of the palpebral fissures property_value: HP:0040005 "The presence of an abnormal shape of the `palpebral fissure` (FMA:59110)." xsd:string {xref="HPO:probinson"} created_by: sebastiankohler creation_date: 2010-06-09T07:56:37Z [Term] id: HP:0200006 name: Slanting of the palpebral fissure xref: UMLS:C2077312 "palpebral fissures" is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler creation_date: 2010-06-09T07:57:10Z [Term] id: HP:0200007 name: Abnormal size of the palpebral fissures def: "An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures." [HPO:sdoelken] is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler creation_date: 2010-06-09T08:18:52Z [Term] id: HP:0200008 name: Intestinal polyposis def: "The presence of multiple polyps in the intestine." [HPO:probinson] synonym: "GASTROINTESTINAL POLYPS" RELATED [HPO:skoehler] synonym: "Multiple intestinal polyps" EXACT [] xref: MeSH:D044483 "Intestinal Polyposis" is_a: HP:0005266 ! Intestinal polyp created_by: sebastiankohler creation_date: 2010-06-09T11:38:54Z [Term] id: HP:0200011 name: Abnormal length of corpus callosum is_a: HP:0001273 ! Abnormality of the corpus callosum created_by: sebastiankohler creation_date: 2010-06-09T11:52:00Z [Term] id: HP:0200012 name: Short corpus callosum is_a: HP:0200011 ! Abnormal length of corpus callosum created_by: sebastiankohler creation_date: 2010-06-09T11:52:21Z [Term] id: HP:0200013 name: Neoplasm of fatty tissue def: "A tumor (abnormal growth of tissue) of adipose tissue." [HPO:sdoelken] is_a: HP:0009124 ! Abnormality of adipose tissue is_a: HP:0011793 ! Neoplasm by anatomical site property_value: HP:0040005 "A benign or malignant `neoplasm` (MPATH:218) (tumour) of adipose tissue." xsd:string {xref="HPO:sdoelken"} created_by: sebastiankohler creation_date: 2010-06-10T09:37:17Z [Term] id: HP:0200015 name: Symmetric great toe depigmentation is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: sebastiankohler creation_date: 2010-06-16T11:57:43Z [Term] id: HP:0200016 name: Acrokeratosis def: "Overgrowth of the stratum corneum characterized by nodular configurations of the backs of the toes and fingers." [HPO:skoehler] is_a: HP:0011368 ! Epidermal thickening is_a: HP:0200036 ! Skin nodule created_by: sebastiankohler creation_date: 2010-06-16T12:18:42Z [Term] id: HP:0200017 name: Cerebral white matter agenesis def: "Congenital defect with failure of the development of the cerebral white matter." [HPO:probinson] synonym: "Agenesis of the cerebral white matter" EXACT [] synonym: "White matter agenesis" EXACT [] is_a: HP:0012429 ! Aplasia/Hypoplasia of the cerebral white matter property_value: HP:0040005 "Congenital defect with failure of the development of the `cerebral white matter` (FMA:241998)." xsd:string {xref="HPO:probinson"} created_by: sebastiankohler creation_date: 2010-06-16T12:37:37Z [Term] id: HP:0200018 name: Protanomaly alt_id: HP:0200019 def: "A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green." [HPO:probinson] comment: Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green. synonym: "Colorblindness, partial, protan series" EXACT [] is_a: HP:0000642 ! Red-green dyschromatopsia is_a: HP:0011519 ! Anomalous trichromacy created_by: sebastiankohler creation_date: 2010-06-16T12:55:24Z [Term] id: HP:0200020 name: Corneal erosion def: "An erosion or abrasion of the cornea's outermost layer of epithelial cells." [HPO:sdoelken] subset: hposlim_core is_a: HP:0011495 ! Abnormality of corneal epithelium created_by: sebastiankohler creation_date: 2010-06-16T01:50:48Z [Term] id: HP:0200021 name: Down-sloping shoulders alt_id: HP:0001556 alt_id: HP:0006663 def: "Low set, steeply sloping shoulders." [HPO:probinson] subset: hposlim_core synonym: "Rounded shoulders" EXACT [] synonym: "Rounded, sloping shoulders" EXACT [] synonym: "Sloping shoulders" EXACT [] xref: UMLS:C1856872 "Sloping shoulders" is_a: HP:0003043 ! Abnormality of the shoulder created_by: sebastiankohler creation_date: 2010-06-16T02:15:20Z [Term] id: HP:0200022 name: Choroid plexus papilloma def: "Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus." [HPO:skoehler] is_a: HP:0007376 ! Abnormality of the choroid plexus is_a: HP:0100835 ! Benign neoplasm of the central nervous system property_value: HP:0040005 "`Choroid plexus papilloma` (MPATH:246) is a histologically benign `neoplasm` (MPATH:218) located in the ventricular system of the `choroid plexus` (FMA:61934)." xsd:string {xref="HPO:skoehler"} created_by: sebastiankohler creation_date: 2010-06-16T04:01:24Z [Term] id: HP:0200023 name: Priapism def: "A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours." [HPO:skoehler] synonym: "hulseyism" EXACT [] xref: MeSH:D011317 "Priapism" is_a: HP:0000056 ! Abnormality of the clitoris is_a: HP:0100639 ! Erectile abnormalities created_by: sebastiankohler creation_date: 2010-06-16T05:00:44Z [Term] id: HP:0200024 name: Premature chromatid separation def: "The presence of premature sister chromatid segregation." [HPO:probinson] is_a: HP:0002916 ! Abnormality of chromosome segregation property_value: HP:0040005 "The presence of `premature` (PATO:0000694) `sister chromatid segregation` (GO:0000819)." xsd:string {xref="HPO:probinson"} created_by: sebastiankohler creation_date: 2010-06-16T05:13:30Z [Term] id: HP:0200025 name: Mandibular pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible." [] is_a: HP:0000277 ! Abnormality of the mandible created_by: sebastiankohler creation_date: 2010-06-16T07:33:14Z [Term] id: HP:0200026 name: Ocular pain def: "An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye." [] is_a: HP:0000284 ! Abnormality of the ocular region created_by: sebastiankohler creation_date: 2010-06-16T07:39:04Z [Term] id: HP:0200028 name: Pretibial myxedema def: "A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet." [HPO:skoehler] is_a: HP:0011356 ! Regional abnormality of skin created_by: sebastiankohler creation_date: 2010-06-17T02:32:36Z [Term] id: HP:0200029 name: Vasculitis in the skin synonym: "Cutaneous vasculitis" EXACT [HPO:skoehler] is_a: HP:0002633 ! Vasculitis is_a: HP:0011276 ! Vascular skin abnormality created_by: sebastiankohler creation_date: 2010-06-17T02:55:19Z [Term] id: HP:0200030 name: Punctate vasculitis skin lesions is_a: HP:0200029 ! Vasculitis in the skin created_by: sebastiankohler creation_date: 2010-06-17T02:55:38Z [Term] id: HP:0200032 name: Kayser-Fleischer ring def: "Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea." [HPO:SKOEHLER] synonym: "Fleischer's ring" EXACT [HPO:SKOEHLER] synonym: "Fleischer-Kayser ring" EXACT [HPO:SKOEHLER] synonym: "Fleischer-Struempell ring" EXACT [HPO:SKOEHLER] is_a: HP:0007957 ! Corneal opacity created_by: sebastiankohler creation_date: 2010-06-24T12:30:24Z [Term] id: HP:0200034 name: Papule def: "A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point." [HPO:skoehler] subset: hposlim_core synonym: "Papules" EXACT [HPO:skoehler] synonym: "Skin papules" RELATED [] xref: MEDRA:10033733 "Papule" xref: SNOMEDCT:25694009 "Papule" xref: UMLS:C0332563 "Papule" xref: UMLS:C1519353 "Skin Papule" is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:38:03Z [Term] id: HP:0200035 name: Skin plaque def: "A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter." [HPO:skoehler] is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:39:28Z [Term] id: HP:0200036 name: Skin nodule def: "Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat." [HPO:skoehler] comment: The depth of involvement is what differentiates a nodule from a papule. is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:48:50Z [Term] id: HP:0200037 name: skin vesicle def: "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T01:58:15Z [Term] id: HP:0200039 name: Pustule def: "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:skoehler] subset: hposlim_core synonym: "Pustula" EXACT [] synonym: "Pustules" EXACT [HPO:skoehler] synonym: "Skin pustule" EXACT [] synonym: "Skin pustules" EXACT [HPO:skoehler] xref: MEDRA:10037578 "Pustule" xref: SNOMEDCT:47002008 "Pustule" xref: UMLS:C0241157 "pustule" is_a: HP:0011123 ! Inflammatory abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T02:03:24Z [Term] id: HP:0200040 name: Epidermoid cyst def: "The presence of one or more cysts of the skin." [HPO:skoehler] comment: A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermoid cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. synonym: "Epidermal inclusion cyst" EXACT [] synonym: "EPIDERMOID CYSTS" RELATED [HPO:skoehler] synonym: "Skin cyst" EXACT [] xref: MeSH:D004814 "Epidermal Cyst" is_a: HP:0011355 ! Localized skin lesion property_value: HP:0040005 "The presence of one or more `cysts` (MPATH:62) of the `skin` (FMA:7163)." xsd:string {xref="HPO:skoehler"} created_by: sebastiankohler creation_date: 2010-06-18T02:08:02Z [Term] id: HP:0200041 name: Skin erosion def: "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:skoehler] xref: MEDRA:10040840 "Skin erosion" is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T02:15:51Z [Term] id: HP:0200042 name: Skin ulcer def: "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:skoehler] subset: hposlim_core xref: MEDRA:10040943 "Skin ulcer" xref: MeSH:D012883 "Skin Ulcer" xref: SNOMEDCT:46742003 "Skin ulcer" xref: UMLS:C0037299 "Skin Ulcer" is_a: HP:0011355 ! Localized skin lesion created_by: sebastiankohler creation_date: 2010-06-18T02:17:00Z [Term] id: HP:0200043 name: Verrucae def: "Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:skoehler] comment: Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion. synonym: "Warts" EXACT [HPO:SKOEHLER] is_a: HP:0012740 ! Papilloma created_by: sebastiankohler creation_date: 2010-06-18T11:35:25Z [Term] id: HP:0200044 name: Porokeratosis def: "A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella." [HPO:skoehler] xref: MeSH:D017499 "Porokeratosis" is_a: HP:0011368 ! Epidermal thickening created_by: sebastiankohler creation_date: 2010-06-18T11:57:47Z [Term] id: HP:0200046 name: Cat cry def: "The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten." [HPO:probinson] comment: This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age. synonym: "cat-like cry" EXACT [HPO:skoehler] synonym: "cri de chat-associated cry" RELATED [HPO:skoehler] is_a: HP:0001608 ! Abnormality of the voice created_by: sebastiankohler creation_date: 2011-02-02T01:56:20Z [Term] id: HP:0200047 name: Chondritis of pinna def: "Inflammation of the cartilage of the external ear." [HPO:probinson] synonym: "Inflammation of cartilage of pinna" EXACT [] is_a: HP:0000377 ! Abnormality of the pinna created_by: sebastiankohler creation_date: 2011-02-02T02:02:10Z [Term] id: HP:0200048 name: Cyanotic episode is_a: HP:0000961 ! Cyanosis created_by: sebastiankohler creation_date: 2011-02-02T02:03:18Z [Term] id: HP:0200049 name: Upper limb hypertonia is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0002509 ! Limb hypertonia created_by: koehlers [Term] id: HP:0200050 name: Bracket metacarpal epiphyses is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: koehlers [Term] id: HP:0200053 name: Hemihypotrophy of lower limb alt_id: HP:0005618 def: "Shortening of a leg affecting only one side." [HPO:curators] synonym: "Asymmetric leg shortening" EXACT [] synonym: "Asymmetric lower limb shortness" EXACT [] xref: UMLS:C1844734 "Asymmetric lower limb shortness" is_a: HP:0100556 ! Hemiatrophy created_by: sebastiankohler creation_date: 2011-12-02T03:41:26Z [Term] id: HP:0200054 name: Monodactyly (feet) is_a: HP:0001849 ! Oligodactyly (feet) created_by: doelkens creation_date: 2011-11-22T09:56:55Z [Term] id: HP:0200055 name: Small hand def: "Disproportionately small hand." [HPO:probinson] synonym: "Disproportionately small hands" EXACT [] synonym: "SMALL HANDS" RELATED [HPO:skoehler] xref: SNOMEDCT:299032009 "Small hand" xref: UMLS:C0575802 "Small hand" is_a: HP:0005927 ! Aplasia/hypoplasia involving bones of the hand created_by: sebastiankohler [Term] id: HP:0200056 name: Macular scarring is_a: HP:0001103 ! Abnormality of the macula is_a: HP:0100699 ! Scarring created_by: sebastiankohler creation_date: 2012-11-18T11:09:09Z [Term] id: HP:0200057 name: Marcus Gunn pupil comment: Video description of how to test patients at: http://www.youtube.com/watch?v=HSYo7LhfV3A . synonym: "relative afferent pupil defect" EXACT [HPO:skoehler] synonym: "relative afferent pupillary defect" EXACT [HPO:skoehler] is_a: HP:0000587 ! Abnormality of the optic nerve created_by: sebastiankohler creation_date: 2012-11-18T12:14:22Z [Term] id: HP:0200058 name: Angiosarcoma is_a: HP:0100242 ! Sarcoma created_by: sebastiankohler [Term] id: HP:0200059 name: Metastatic angiosarcoma is_a: HP:0200058 ! Angiosarcoma created_by: sebastiankohler [Term] id: HP:0200063 name: Colorectal polyps def: "Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. " [] synonym: "Colorectal polyposis" RELATED [] is_a: HP:0030255 ! Large intestinal polyposis is_a: HP:0100743 ! Neoplasm of the rectum created_by: sebastiankohler creation_date: 2013-05-31T01:19:31Z [Term] id: HP:0200064 name: Asymmetry of iris pigmentation is_a: HP:0008034 ! Abnormal iris pigmentation created_by: sebastiankohler creation_date: 2013-05-31T01:27:41Z [Term] id: HP:0200065 name: Choroidoretinal degeneration is_a: HP:0000532 ! Chorioretinal abnormality created_by: sebastiankohler creation_date: 2013-05-31T01:29:16Z [Term] id: HP:0200066 name: Ribbonlike corneal degeneration is_a: HP:0007705 ! Corneal degeneration created_by: sebastiankohler creation_date: 2013-05-31T01:31:04Z [Term] id: HP:0200067 name: Recurrent spontaneous abortion def: "Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference." [HPO:probinson] synonym: "SPONTANEOUS ABORTION, RECURRENT" RELATED [HPO:skoehler] is_a: HP:0005268 ! Spontaneous abortion created_by: sebastiankohler creation_date: 2013-05-31T01:33:01Z [Term] id: HP:0200068 name: Nonprogressive visual loss synonym: "DECREASED VISUAL ACUITY, NONPROGRESSIVE" RELATED [HPO:skoehler] is_a: HP:0000572 ! Visual loss created_by: sebastiankohler creation_date: 2013-05-31T01:36:51Z [Term] id: HP:0200070 name: Peripheral retinal atrophy is_a: HP:0001105 ! Retinal atrophy created_by: sebastiankohler creation_date: 2013-05-31T01:48:09Z [Term] id: HP:0200071 name: Peripheral vitreoretinal degeneration is_a: HP:0000655 ! Vitreoretinal degeneration created_by: sebastiankohler creation_date: 2013-05-31T01:49:02Z [Term] id: HP:0200072 name: Episodic quadriplegia def: "Intermittent episodes of paralysis of all four limbs." [HPO:probinson] synonym: "QUADRIPLEGIA, EPISODIC" RELATED [HPO:skoehler] is_a: HP:0002445 ! Tetraplegia created_by: sebastiankohler creation_date: 2013-05-31T04:27:32Z [Term] id: HP:0200073 name: Respiratory insufficiency due to defective ciliary clearance is_a: HP:0002093 ! Respiratory insufficiency is_a: HP:0012261 ! Abnormal respiratory motile cilium physiology created_by: sebastiankohler creation_date: 2013-05-31T04:31:32Z [Term] id: HP:0200083 name: Severe limb shortening is_a: HP:0002983 ! Micromelia created_by: sebastiankohler creation_date: 2013-06-03T04:14:07Z [Term] id: HP:0200084 name: Giant cell hepatitis synonym: "GIANT CELL HEPATITIS ON BIOPSY" RELATED [HPO:skoehler] synonym: "GIANT CELL HEPATITIS ON LIVER BIOPSY" RELATED [HPO:skoehler] synonym: "GIANT CELL HEPATITIS SHOWN ON BIOPSY" RELATED [HPO:skoehler] is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-04T02:32:26Z [Term] id: HP:0200085 name: Limb tremor synonym: "TREMOR OF LIMBS" RELATED [HPO:skoehler] is_a: HP:0030188 ! Tremor by anatomical site created_by: sebastiankohler creation_date: 2013-06-04T02:39:15Z [Term] id: HP:0200094 name: Frontal open bite is_a: HP:0010807 ! Open bite created_by: sebastiankohler creation_date: 2013-06-04T03:04:44Z [Term] id: HP:0200095 name: Anterior open bite is_a: HP:0010807 ! Open bite created_by: sebastiankohler creation_date: 2013-06-04T03:04:56Z [Term] id: HP:0200096 name: Triangular-shaped open mouth def: "A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle." [HPO:probinson] is_a: HP:0000194 ! Open mouth is_a: HP:0000207 ! Triangular mouth created_by: sebastiankohler creation_date: 2013-06-04T03:06:03Z [Term] id: HP:0200097 name: Oral mucosal blisters def: "Blisters arising in the mouth." [HPO:probinson] synonym: "ORAL MUCOSA BLISTERS" RELATED [HPO:skoehler] is_a: HP:0008066 ! Abnormal blistering of the skin is_a: HP:0011830 ! Abnormality of oral mucosa created_by: sebastiankohler creation_date: 2013-06-05T09:59:58Z [Term] id: HP:0200098 name: Absent skin pigmentation def: "Lack of skin pigmentation (coloring)." [HPO:probinson] is_a: HP:0001010 ! Hypopigmentation of the skin created_by: sebastiankohler creation_date: 2013-06-05T10:22:18Z [Term] id: HP:0200099 name: Peripheral retinal pigmentation abnormalities synonym: "PIGMENTARY CHANGES IN THE PERIPHERAL RETINA" EXACT [HPO:skoehler] is_a: HP:0007703 ! Abnormal retinal pigmentation created_by: sebastiankohler creation_date: 2013-06-05T10:24:46Z [Term] id: HP:0200101 name: Decreased/absent ankle reflexes synonym: "DECREASED OR ABSENT ANKLE REFLEXES" RELATED [HPO:skoehler] is_a: HP:0002522 ! Areflexia of lower limbs created_by: sebastiankohler creation_date: 2013-06-05T11:58:29Z [Term] id: HP:0200102 name: Sparse or absent eyelashes synonym: "Partial to total absence of eyelashes" RELATED [HPO:skoehler] synonym: "SPARSE OR ABSENT EYELASHES" RELATED [HPO:skoehler] synonym: "SPARSE TO ABSENT EYELASHES" RELATED [HPO:skoehler] is_a: HP:0000499 ! Abnormality of the eyelashes created_by: sebastiankohler creation_date: 2013-06-05T12:03:01Z [Term] id: HP:0200104 name: Absent fifth fingernail alt_id: HP:0011366 def: "Absence of nail of little finger." [HPO:probinson] synonym: "Absent nail of fifth finger" EXACT [] is_a: HP:0001817 ! Absent fingernail property_value: HP:0040005 "Absence of `nail of little finger` (FMA:54341)." xsd:string {xref="HPO:probinson"} created_by: sebastiankohler creation_date: 2013-06-05T12:11:16Z [Term] id: HP:0200105 name: Absent fifth toenail is_a: HP:0001802 ! Absent toenail created_by: sebastiankohler creation_date: 2013-06-05T12:11:38Z [Term] id: HP:0200106 name: Absent/shortened dynein arms is_a: HP:0012255 ! Dynein arm defect of respiratory motile cilia created_by: sebastiankohler creation_date: 2013-06-05T12:14:18Z [Term] id: HP:0200107 name: Shortened inner dynein arms is_a: HP:0200106 ! Absent/shortened dynein arms created_by: sebastiankohler creation_date: 2013-06-05T12:14:49Z [Term] id: HP:0200108 name: Shortened outer dynein arms is_a: HP:0200106 ! Absent/shortened dynein arms created_by: sebastiankohler creation_date: 2013-06-05T12:15:10Z [Term] id: HP:0200109 name: Absent/shortened outer dynein arms synonym: "RESPIRATORY CILIA HAVE SHORTENED OR ABSENT OUTER DYNEIN ARMS" RELATED [HPO:skoehler] is_a: HP:0012256 ! Absent outer dynein arms is_a: HP:0200108 ! Shortened outer dynein arms created_by: sebastiankohler creation_date: 2013-06-05T12:17:14Z [Term] id: HP:0200111 name: Absent stapes head is_a: HP:0008628 ! Abnormality of the stapes created_by: sebastiankohler creation_date: 2013-06-05T12:21:37Z [Term] id: HP:0200113 name: Aphalangy of hands and feet synonym: "APHALANGY, HANDS AND FEET" RELATED [HPO:skoehler] is_a: HP:0005886 ! Aphalangy of the hands is_a: HP:0009776 ! Adactyly is_a: HP:0010745 ! Aplasia of the phalanges of the toes created_by: sebastiankohler creation_date: 2013-06-05T12:27:09Z [Term] id: HP:0200114 name: Metabolic alkalosis is_a: HP:0001948 ! Alkalosis created_by: sebastiankohler creation_date: 2013-06-05T12:33:28Z [Term] id: HP:0200115 name: Scalp hair loss is_a: HP:0002234 ! Early balding created_by: sebastiankohler creation_date: 2013-06-05T12:35:11Z [Term] id: HP:0200116 name: Distal ileal atresia is_a: HP:0011102 ! Ileal atresia created_by: sebastiankohler creation_date: 2013-06-06T04:14:39Z [Term] id: HP:0200117 name: Recurrent upper and lower respiratory tract infections is_a: HP:0002783 ! Recurrent lower respiratory tract infections is_a: HP:0002788 ! Recurrent upper respiratory tract infections created_by: sebastiankohler creation_date: 2013-06-07T01:34:02Z [Term] id: HP:0200118 name: Malabsorption of Vitamin B12 synonym: "MALABSORPTION OF VITAMIN B12 (CYANOCOBALAMIN)" RELATED [HPO:skoehler] synonym: "VITAMIN B12 DEFICIENCY CAUSED BY INTESTINAL MALABSORPTION" RELATED [HPO:skoehler] is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism created_by: sebastiankohler creation_date: 2013-06-11T11:04:49Z [Term] id: HP:0200119 name: Acute hepatitis is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:15:57Z [Term] id: HP:0200120 name: Chronic active hepatitis synonym: "HEPATITIS, CHRONIC ACTIVE" RELATED [HPO:skoehler] is_a: HP:0200123 ! Chronic hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:17:25Z [Term] id: HP:0200122 name: Atypical or prolonged hepatitis is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:20:29Z [Term] id: HP:0200123 name: Chronic hepatitis is_a: HP:0012115 ! Hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:20:53Z [Term] id: HP:0200124 name: Chronic hepatitis due to cryptospridium infection synonym: "HEPATITIS, CHRONIC, DUE TO CRYPTOSPORIDIUM INFECTION" RELATED [HPO:skoehler] is_a: HP:0200123 ! Chronic hepatitis created_by: sebastiankohler creation_date: 2013-06-11T11:21:21Z [Term] id: HP:0200125 name: Mitochondrial respiratory chain defects is_a: HP:0003287 ! Abnormality of mitochondrial metabolism created_by: sebastiankohler creation_date: 2013-06-11T11:22:52Z [Term] id: HP:0200126 name: Amyolid cardiomyopathy is_a: HP:0001638 ! Cardiomyopathy is_a: HP:0011034 ! Amyloidosis created_by: sebastiankohler creation_date: 2013-06-11T11:25:53Z [Term] id: HP:0200127 name: Atrial cardiomyopathy is_a: HP:0001638 ! Cardiomyopathy created_by: sebastiankohler creation_date: 2013-06-11T11:27:27Z [Term] id: HP:0200128 name: Biventricular hypertrophy is_a: HP:0001667 ! Right ventricular hypertrophy is_a: HP:0001712 ! Left ventricular hypertrophy created_by: sebastiankohler creation_date: 2013-06-11T11:28:46Z [Term] id: HP:0200129 name: Calcific mitral stenosis alt_id: HP:0005149 def: "Abnormal narrowing of the orifice of the mitral valve because of calcification of the mitral valve leaflets." [HPO:probinson] synonym: "Calcific mitral valve stenosis" EXACT [] synonym: "Mitral stenosis due to calcifications" EXACT [] is_a: HP:0001718 ! Mitral stenosis is_a: HP:0004382 ! Mitral valve calcification created_by: sebastiankohler creation_date: 2013-06-11T11:30:06Z [Term] id: HP:0200133 name: Lumbosacral meningocele is_a: HP:0100712 ! Abnormality of the lumbar spine created_by: sebastiankohler creation_date: 2013-06-11T03:59:35Z [Term] id: HP:0200134 name: Epileptic encephalopathy is_a: HP:0001298 ! Encephalopathy created_by: sebastiankohler creation_date: 2013-06-11T04:02:30Z [Term] id: HP:0200135 name: Macrocephaly due to hydrocephalus is_a: HP:0000238 ! Hydrocephalus is_a: HP:0000256 ! Macrocephaly created_by: sebastiankohler creation_date: 2013-06-12T10:58:49Z [Term] id: HP:0200136 name: Oral-pharyngeal dysphagia is_a: HP:0000600 ! Abnormality of the pharynx is_a: HP:0002015 ! Dysphagia created_by: sebastiankohler creation_date: 2013-06-12T11:05:35Z [Term] id: HP:0200138 name: Bilateral choanal atresia/stenosis is_a: HP:0000452 ! Choanal stenosis is_a: HP:0004502 ! Bilateral choanal atresia created_by: sebastiankohler creation_date: 2013-06-12T11:08:52Z [Term] id: HP:0200141 name: Small, conical teeth is_a: HP:0000691 ! Microdontia is_a: HP:0000698 ! Conical tooth created_by: sebastiankohler creation_date: 2013-06-13T11:59:54Z [Term] id: HP:0200143 name: Megaloblastic erythroid hyperplasia synonym: "BONE MARROW BIOPSY SHOWS MEGALOBLASTIC ERYTHROID HYPERPLASIA" RELATED [HPO:skoehler] is_a: HP:0012132 ! Erythroid hyperplasia created_by: sebastiankohler creation_date: 2013-06-13T12:44:34Z [Term] id: HP:0200144 name: Anaphylactoid purpura is_a: HP:0000979 ! Purpura created_by: sebastiankohler creation_date: 2013-06-13T12:53:00Z [Term] id: HP:0200146 name: Cystic medial necrosis of the aorta is_a: HP:0002597 ! Abnormality of the vasculature created_by: sebastiankohler creation_date: 2013-06-13T12:55:22Z [Term] id: HP:0200147 name: Neuronal loss in basal ganglia def: "A reduction in the number of nerve cells in the basal ganglia." [HPO:probinson, pmid:13729575] comment: See Fig. 11 in pmid:13729575. is_a: HP:0002134 ! Abnormality of the basal ganglia property_value: HP:0040005 "A reduction in the number of nerve cells in the `basal ganglia` (FMA:84013)." xsd:string {xref="HPO:probinson", xref="pmid:13729575"} created_by: sebastiankohler creation_date: 2013-06-13T12:59:06Z [Term] id: HP:0200148 name: Abnormal liver function tests during pregnancy synonym: "ABNORMAL LIVER FUNCTION TESTS DURING PREGNANCY, RESOLVES POSTPARTUM" RELATED [HPO:skoehler] is_a: HP:0002910 ! Elevated hepatic transaminases created_by: sebastiankohler creation_date: 2013-06-13T01:01:21Z [Term] id: HP:0200149 name: CSF lymphocytic pleiocytosis def: "An increased lymphocyte count in the cerebrospinal fluid." [KI:phemming] synonym: "CSF lymphocytosis" EXACT [] is_a: HP:0012229 ! CSF pleocytosis created_by: sebastiankohler creation_date: 2013-06-13T01:03:23Z [Term] id: HP:0200150 name: Increased serum bile acid concentration during pregnancy synonym: "INCREASED SERUM BILE ACID CONCENTRATION DURING PREGNANCY, RESOLVES" RELATED [HPO:skoehler] is_a: HP:0012202 ! Increased serum bile acid concentration created_by: sebastiankohler creation_date: 2013-06-13T01:05:40Z [Term] id: HP:0200151 name: Cutaneous mastocytosis is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0100495 ! Mastocytosis created_by: sebastiankohler creation_date: 2013-06-14T09:22:02Z [Term] id: HP:0200153 name: Agenesis of lateral incisor is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0200154 name: Agenesis of mandibular lateral incisor is_a: HP:0200153 ! Agenesis of lateral incisor is_a: HP:0200161 ! Agenesis of mandibular incisor [Term] id: HP:0200158 name: Agenesis of permanent mandibular lateral incisor is_a: HP:0200154 ! Agenesis of mandibular lateral incisor [Term] id: HP:0200159 name: Agenesis of primary mandibular lateral incisor is_a: HP:0200154 ! Agenesis of mandibular lateral incisor [Term] id: HP:0200160 name: Agenesis of maxillary incisor is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0200161 name: Agenesis of mandibular incisor is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0400000 name: Tall chin def: "Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin." [eom:96d8ca16a3c80216, pmid:19125436] is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0400001 name: Chin with vertical crease def: "Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest." [eom:8a5493c72e0dd13c, pmid:19125436] comment: The vertical shape must be distinguished from H-shaped crease of the chin. synonym: "Chin, vertical crease" EXACT [] is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0400002 name: Extra concha fold def: "Folds or ridges within the concha that are distinct from the crus helix." [eom:40563f1f62db2319, pmid:19152421] synonym: "Concha, Extra Fold" EXACT [] is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0400003 name: Focal absence of the external ear def: "Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe)." [eom:5b0e213b31288acd, pmid:19152421] is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear [Term] id: HP:0400004 name: Long ear def: "Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2028381d5c61842a, pmid:19152421] comment: The commonly used term Macrotia is a bundled term comprising increased length and width (surface area). synonym: "Long ears" EXACT [HPO:skoehler] is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0400005 name: Short ear def: "Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear." [eom:2cff5ac9b681fc73, pmid:19152421] comment: The commonly used term Microtia is a bundled term comprising decreased length and width (surface area). synonym: "Short ears" EXACT [HPO:skoehler] is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0400007 name: Polymenorrhea def: "Frequent menses; menstrual cycles lasting less than 21 days." [pmid:22594864] xref: UMLS:C0032519 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0400008 name: Menometrorrhagia def: "Prolonged/excessive menses and bleeding at irregular intervals.\n" [pmid:22594864] xref: UMLS:C0232943 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0410000 name: Abnormality of vomer def: "An abnormality of the vomer." [GOC:NV] synonym: "Defect of vomer" EXACT [] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0410003 name: cleft primary palate is_a: HP:0000175 ! Cleft palate [Term] id: HP:0410004 name: cleft secondary palate is_a: HP:0000175 ! Cleft palate [Term] id: HP:0410005 name: cleft hard palate is_a: HP:0410004 ! cleft secondary palate [Term] id: HP:0430000 name: Abnormality of the frontal bone def: "An abnormality of the frontal bone." [GOC:MG] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430002 name: Abnormality of the lacrimal bone def: "An abnormality of the lacrimal bone." [GOC:MG] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430003 name: Abnormality of the palatine bone def: "An abnormality of the palatine bone." [GOC:MG] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430004 name: Frontomalar faciosynostosis is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430005 name: Abnormality of ethmoid bone def: "An abnormality of the ethmoid bone" [GOC:MG] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0430006 name: Ectopic cilia of eyelid def: "An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid." [GOC:MG, http://www.eyecareforanimals.com/animal-eye-conditions/general/251-distichiasis-trichiasis-ectopic-cilia.html] is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0430007 name: Symblepharon def: "A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball." [GOC:MG, http://en.wikipedia.org/wiki/Symblepharon] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0430008 name: Accessory eyelid def: "The presence of more than the normal number of eyelids." [GOC:MG] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0430009 name: Hypoplasia of eyelid def: "Developmental hypoplasia of the eyelid." [GOC:MG] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0430010 name: Microblepharia def: "Abnormal shortness of the vertical dimensions of the eyelids." [http://medical-dictionary.thefreedictionary.com/microblepharia] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0430011 name: Defect of palpebral conjunctiva def: "An abnormality of the palpebral conjunctiva." [GOC:MG] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0430012 name: Incomplete ossification of palatine bone def: "Failure to complete ossification (maturation and calcification) of the palatine bone." [GOC:MG] is_a: HP:0430003 ! Abnormality of the palatine bone [Term] id: HP:0430013 name: Absent palatine bone ossification def: "Lack of formation of the palatine bone." [GOC:MG] is_a: HP:0430003 ! Abnormality of the palatine bone